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Objective: Rathke's cleft cysts (RCCs) exhibit variable growth patterns, thus posing a challenge in predicting progression. While some RCCs may not cause symptoms, others can insidiously cause pituitary dysfunction, which is often irreversible, even following surgery. Hence, it is crucial to identify asymptomatic RCCs that grow rapidly and pose a higher risk of causing endocrinologic dysfunction. This enables timely surgical intervention to prevent permanent damage. Our study examines the growth rate of RCCs, identifies factors that accelerate growth, and discusses the clinical implications of these findings., Methods: A retrospective analysis of a prospectively maintained electronic database revealed 45 patients aged 18-80 years who underwent endoscopic endonasal surgery (EEA) for RCCs between 2010 and 2022 at our center. Of these, 20 required early operative intervention. The remaining 25 patients were followed closely clinically and radiologically before requiring surgery (initial conservative management group). We conducted an analysis of the factors predicting growth over time in this group. Using a regression model, we constructed a risk score system to predict RCC growth over time., Results: Patients in the initial conservative group had smaller cysts and were generally older than those in the early surgery group. Patients with preoperative pituitary dysfunction showed a higher median growth of 1.0 mm in the longest diameter compared to those with normal pituitary function, with an increase of 0.5 mm. A sum of annual cyst growth of all (z, y, x) diameters, at a rate of 3 mm or greater, was associated with a clinically significant increase in the risk of pituitary dysfunction, exceeding 50%.The most significant factors predicting rapid growth in RCCs were smoking status, age, and T1-weighted magnetic resonance imaging (MRI) intensity of cysts. Smoking was the most critical risk factor for rapid cyst growth (p =  < .001). Our risk score system accurately predicted RCC growth with a 74% accuracy rate, 73% sensitivity, and 75% specificity., Conclusion: Our analysis showed a strong link between active smoking and the rapid growth of RCC. This novel finding has significant preventive implications but needs validation by a large population database. Surgical intervention for RCC currently is often reserved for symptomatic cases. However, utilizing our risk-based scoring system to predict rapidly growing cysts may indicate early surgery in minimally symptomatic patients, thereby potentially preserving pituitary function., (© 2024. The Author(s).)

Background: SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in a 'copy-and-paste' manner. They continue to move actively and cause monogenic diseases through various mechanisms. Currently, disease-causing SVA retrotransposons are classified into human-specific young SVA&#95;E or SVA&#95;F subfamilies. In this study, we identified an evolutionarily old SVA&#95;D retrotransposon as a novel cause of occipital horn syndrome (OHS). OHS is an X-linked, copper metabolism disorder caused by dysfunction of the copper transporter, ATP7A., Methods: We investigated a 16-year-old boy with OHS whose pathogenic variant could not be detected via routine molecular genetic analyses., Results: A 2.8 kb insertion was detected deep within the intron of the patient's ATP7A gene. This insertion caused aberrant mRNA splicing activated by a new donor splice site located within it. Long-read circular consensus sequencing enabled us to accurately read the entire insertion sequence, which contained highly repetitive and GC-rich segments. Consequently, the insertion was identified as an SVA&#95;D retrotransposon. Antisense oligonucleotides (AOs) targeting the new splice site restored the expression of normal transcripts and functional ATP7A proteins. AO treatment alleviated excessive accumulation of copper in patient fibroblasts in a dose-dependent manner. Pedigree analysis revealed that the retrotransposon had moved into the OHS-causing position two generations ago., Conclusion: This is the first report of a human monogenic disease caused by the SVA&#95;D retrotransposon. The fact that the evolutionarily old SVA&#95;D is still actively transposed, leading to increased copy numbers may make a notable impact on rare genetic disease research., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Our aim was to determine whether the Apparent Diffusion Coefficient is able to predict the presence of a symptomatic pineal cyst by detecting cerebral edema., Methods: We retrospectively analyzed MRIs of 45 patients with pineal cysts before and after resection and 51 patients without pineal cysts, comparing ADC values of thalamus, central, periventricular and subcortical white matter. Furthermore we evaluated cyst size and morphology and analyzed its correlation to ADC values in corresponding patients., Results: Differences between patients with symptomatic pineal cyst and control group were not significant (p = 0.200 - 0.968). ADC ratios did not change significantly after resection of the cyst (p = 0.575 - 0.862). Cyst size showed no significant correlation to ADC ratios (p = 0.071 - 0.918). Raw data analyses revealed more significance, especially periventricularly and in central white matter, which resulted in significant interhemispheric differences in ADC ratios in both subgroups (p < 0.001 and p = 0.031). MRI of 1.5T showed consistently higher values than 3T but mostly insignificant., Conclusion: Our analysis revealed no evidence that pineal cysts lead to intracerebral edema caused by venous compression. Since variability was higher than the differences seen, ADC sequences do not appear to be an appropriate diagnostic tool for symptomatic pineal cysts., (© 2024. The Author(s).)

Pineal cysts are frequently encountered as incidental findings in magnetic resonance imaging, usually devoid of symptoms, yet some patients exhibit symptomatic manifestations possibly associated with the cyst, even in the absence of hydrocephalus. The etiology of these symptoms remains contentious. This study aims to investigate the presence of lymphatic endothelial cell (LEC) markers and indications of inflammation or immune response within the pineal cysts of patients experiencing symptomatic non-hydrocephalic presentations. Eight patients who underwent surgical excision of their cysts were included in the study. Immunohistochemistry was utilized to assess the expression of LYVE-1, PDPN, and VEGFR3 as LEC markers, alongside IL-6 and CD3 for indications of inflammation or immune activity. Our analysis revealed an absence of inflammatory markers or immune response. However, a distinct expression of VEGFR3 was observed, likely localized to neurons within the pineal cyst tissue. We propose that these VEGFR3+ neurons within the pineal cyst may contribute to the headache symptoms reported by these patients. Further investigations are warranted to substantiate this hypothesis., Competing Interests: Declaration of competing interest The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Rathke's cleft cysts (RCC) are a common type of lesion found in the sellar or suprasellar area. They are usually monitored clinically, but in some cases, surgery may be required. However, their natural progression is not yet well understood, and the outcomes of surgery are uncertain. The objective of this study is to evaluate the natural history of Rathke's cleft cysts in patients who are clinically monitored without treatment, and to determine the outcomes of surgery and the incidence of recurrences over time., Design and Patients: National multicentric study of patients diagnosed of Rathke's cleft cyst (RCC- Spain) from 2000 onwards and followed in 15 tertiary centers of Spain. A total of 177 patients diagnosed of RCC followed for 67.3 months (6-215) and 88 patients who underwent surgery, (81 patients underwent immediate surgery after diagnosis and 7 later for subsequent growth) followed for 68.8 months (3-235)., Results: The cyst size remained stable or decreased in 73.5% (133) of the patients. Only 44 patients (24.3%) experienced a cyst increase and 9 of them (5.1%) experienced an increase greater than 3 mm. In most of the patients who underwent surgery headaches and visual alterations improved, recurrence was observed in 8 (9.1%) after a median time of 96 months, and no predictors of recurrence were discovered., Conclusions: Rathke's cleft cysts without initial compressive symptoms have a low probability of growth, so conservative management is recommended. Patients who undergo transsphenoidal surgery experience rapid clinical improvement, and recurrences are infrequent. However, they can occur after a long period of time, although no predictors of recurrence have been identified., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Menéndez-Torre, Gutiérrez-Hurtado, Ollero, Irigaray, Martín, Parra, González-Molero, Araujo-Castro, Idrobo, Moure, Molina, Biagetti, Iglesias, Paja, Villar-Taibo, Pena, Vicente, Guerrero-Pérez, Cordido, Aulinas, Mateu and Soto.)

Purpose: The contents of Rathke's cleft cysts (RCCs) vary from clear and slightly viscous to purulent. Surgical treatment of symptomatic RCCs involves removing the cyst contents, whereas additional cyst-wall opening to prevent reaccumulation is at the surgeon's discretion. The macroscopic findings of the cyst content can reflect the nature of RCCs and would aid in surgical method selection., Methods: We retrospectively reviewed the records of 42 patients with symptomatic RCCs who underwent transsphenoidal surgery at our institute between January 2010 and March 2022. According to the intraoperative findings, cyst contents were classified into type A (purulent), type B (turbid white with mixed semisolids), or type C (clear and slightly viscous). Clinical and imaging findings and early recurrence rate (within two years) were compared according to the cyst content type., Results: There were 42 patients classified into three types. Patients with type C were the oldest (65.4 ± 10.4 years), and type A included more females (92.9%). For magnetic resonance imaging, type-A patients showed contrast-enhanced cyst wall (92.9%), type-B patients had intracystic nodules (57.1%), and all type-C patients showed low T1 and high T2 intensities with larger cyst volumes. Fewer asymptomatic patients had type C. Preoperative pituitary dysfunction was most common in type A (71.4%). Early recurrence was observed in types A and C, which were considered candidates for cyst-wall opening., Conclusion: The clinical characteristics and surgical prognosis of RCCs depend on the nature of their contents., (© 2024. The Author(s).)

Rathke's Cleft Cysts (RCCs) and Craniopharyngiomas (CPs) may represent disease entities on the same etio-pathological spectrum. We report the case of a 36-year-old female presenting with vision loss and menstrual irregularities, imaging shows a predominantly cystic lesion in the sellar region with suprasellar extension. She underwent a microscopic transnasal resection of the lesion. She later presented with recurrent symptoms and increased residual lesion size on imaging, a transcranial excision of the lesion was performed. Histopathology from the initial operative specimen revealed RCC with squamous metaplasia which was BRAF negative, while the specimen from the second surgery revealed BRAF positive papillary stratified squamous architecture suggestive of Papillary CP. This case adds to the evidence that both RCCs and papillary CPs may be the spectrum of the same disease. Further, papillary CPs may be an evolution from the RCCs., (Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.)

This paper shows for the first time that co-transplantation of human olfactory ensheathing cells with neurotrophin-3 into spinal cord cysts is more effective for activation of remyelination than transplantation of cells with brain-derived neurotrophic factor and a combination of these two factors. The studied neurotrophic factors do not affect proliferation and migration of ensheathing cells in vitro. It can be concluded that the maximum improvement of motor function in rats receiving ensheathing cells with neurotrophin-3 is largely determined by activation of remyelination., (© 2024. Springer Science+Business Media, LLC, part of Springer Nature.)

Intracranial calcification (ICC) occurs in many neurologic disorders both acquired and genetic. In some inherited white matter disorders, it is a common or even invariable feature where the presence and pattern of calcification provides an important pointer to the specific diagnosis. This is particularly the case for the Aicardi-Goutières syndrome (AGS) and for Coats plus (CP) and leukoencephalopathy with calcifications and cysts (LCC), which are discussed in detail in this chapter. AGS is a genetic disorder of type 1 interferon regulation, caused by mutations in any of the nine genes identified to date. In its classic form, AGS has very characteristic clinical and neuroimaging features which will be discussed here. LCC is a purely neurologic disorder caused by mutations in the SNORD118 gene, whereas CP is a multisystem disorder of telomere function that may result from mutations in the CTC1, POT1, or STN genes. In spite of the different pathogenetic basis for LCC and CP, they share remarkably similar neuroimaging and neuropathologic features. Cockayne syndrome, in which ICC is usually present, is discussed elsewhere in this volume. ICC may occur as an occasional feature of many other white matter diseases, including Alexander disease, Krabbe disease, X-ALD, and occulodentodigital dysplasia., (Copyright © 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.)

Objective: This paper assesses the clinical and imaging characteristics, histopathological findings, and treatment outcomes of patients with Rathke's cleft cyst (RCC), as well as identifies potential risk factors for preoperative visual and pituitary dysfunction, intraoperative cerebrospinal fluid (CSF) leak, and recurrence. Through analyzing these factors, the study aims to contribute to the current understanding of the management of RCCs and identify opportunities for improving patient outcomes., Methods: We performed a retrospective analysis of 45 RCC patients between ages 18-80 treated by Endoscopic Endonasal Approach (EEA) and cyst marsupialization between 2010 and 2022 at a single institution., Results: The median patient age was 34, and 73% were female. The mean follow-up was 70 ± 43 months. Preoperative visual impairment correlated with cyst diameter (OR = 1.41, 95% CI = 1.07 to 1.85, p-value = 0.01) and older age (OR = 1.06, 95% CI = 1.01 to 1.11, p-value = 0.02). Intraoperative CSF leaks were 11 times more likely for cysts ≥ 2 cm (OR = 11.3, 95% CI = 1.25 to 97.37, p-value = 0.03), with the odds of leakage doubling for every 0.1 cm increase in cyst size (OR = 1.41, 95% CI = 1.08 to 1.84, p-value = 0.01). Preoperative RCC appearing hypointense on T1 images demonstrated significantly higher CSF leak rates than hyperintense lesions (OR = 122.88, 95% CI = 1.5 to 10077.54, p-value = 0.03). Preoperative pituitary hypofunction was significantly more likely in patients with the presence of inflammation on histopathology (OR = 20.53, 95% CI = 2.20 to 191.45, p-value = 0.008 ) and T2 hyperintensity on magnetic resonance imaging (MRI) sequences (OR = 23.2, 95% CI = 2.56 to 211.02, p-value = 0.005). Notably, except for the hyperprolactinemia, no postoperative improvement was observed in pituitary function., Conclusion: Carefully considering risk factors, surgeons can appropriately counsel patients and deliver expectations for complications and long-term results. In contrast to preoperative visual impairment, preoperative pituitary dysfunction was found to have the least improvement post-surgery. It was the most significant permanent complication, with our data indicating the link to the cyst signal intensity on T2 MR and inflammation on histopathology. Earlier surgical intervention might improve the preservation of pituitary function., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

In the current article, we present a case of an adolescent boy with a nasopharyngeal cyst that induced nasal and Eustachian tube obstruction. Nasopharyngeal cysts can be found incidentally during imaging examinations such as MRI; however, a symptomatic nasopharyngeal cyst is a rare finding in the paediatric population. The cyst was treated successfully by marsupialisation, and the histological diagnosis revealed an adenoidal retention cyst. The differential diagnosis of a nasopharyngeal cyst is always challenging since developmental cysts such as Rathke's pouch cysts, Torwaldt's and branchial cleft cysts may be encountered at the nasopharynx. The current article also intends to present the diagnostic and therapeutic approach to a nasopharyngeal cyst, emphasising anatomical and embryological considerations that address its differential diagnosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Although choroid plexus cysts are a frequent incidental neuroimaging finding, symptomatic ones are rare-a series of more than five cases are hard to find. In the absence of high-volume studies, there are no generally accepted algorithms for diagnosis and treatment for this pathology. Proposed surgical techniques include microsurgical excision or fenestration and endoscopic excision or fenestration with or without additional shunting. No definitive conclusions exist about the superiority of a certain technique. Here, we introduce an illustrative case of a patient with a symptomatic choroid plexus cyst in the trigone of the lateral ventricle and a systematic review of 65 additional published cases with the aim of identifying epidemiological features, variants of localization of the cysts, their symptoms, persistence of concomitant obstructive hydrocephalus, and treatment modalities. A PRISMA-based literature search was performed on the PubMed, MEDLINE, Scopus, and Web of Knowledge databases. We include in the review case reports and case series of symptomatic choroid plexus cysts with full texts or valuable abstracts available online in English and published by April 2023. All abstracts of retrieved studies were assessed by two independent researchers to avoid bias. Only descriptive statistics were used for the presentation of the results. A total of 48 studies (39 case reports and 9 case series) with 65 depicted cases met the eligibility criteria. The review showed a slight predominance of choroid plexus cysts in men. The most common localizations of cysts were the trigone and the body of the lateral ventricle. Obstructive hydrocephalus is often present in patients with choroid plexus cysts. The most common symptoms of cysts were signs of increased ICP: headaches and vomiting. The main treatment approaches for symptomatic choroid plexus cysts were microsurgical excision, microsurgical fenestration, endoscopic fenestration, and total endoscopic excision. The tendency has been noted to shift from microsurgical to endoscopic procedures over the past two decades. Some data on the classification of cysts of the central nervous system and the underlying mechanisms of the pathogenesis of choroid plexus cysts are also presented.Although symptomatic cases of choroid plexus cysts are rare, by summarizing currently available data, one could clarify their common features and identify a preferable treatment modality., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background and Purpose: Cystic pituitary adenomas and cystic craniopharyngiomas may mimic Rathke cleft cysts when there is no solid enhancing component on magnetic resonance imaging (MRI). This study aims to investigate the efficiency of MRI findings in differentiating Rathke cleft cysts from pure cystic pituitary adenoma and pure cystic craniopharyngioma., Materials and Methods: 109 patients were included in this study (56 Rathke cleft cysts, 38 pituitary adenomas, and 15 craniopharyngiomas). Preoperative magnetic resonance images were evaluated using 9 imaging findings. These findings include intralesional fluid-fluid level, intralesional septations, midline /off-midline location, suprasellar extension, an intracystic nodule, a hypointense rim on T2-weighted images, ≥ 2 mm thickness of contrast-enhancing wall, T1 hyperintensity and T2 hypointensity. p < 0.01 was considered statistically significant., Results: There was a statistically significant difference among groups for these 9 findings. Intracystic nodule and T2 hypointensity were the most specific MRI findings in differentiating Rathke cleft cyst from the others (98.1% and 100%, respectively). Intralesional septation and thick contrast-enhancing wall were the most sensitive MRI findings ruling out Rathke cleft cysts with 100% sensitivity., Conclusion: Rathke cleft cysts can be distinguished from pure cystic adenoma and craniopharyngioma with the presence of an intracystic nodule, T2 hypointensity, the absence of the thick contrast-enhancing wall, and absence of intralesional septations., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: Large Rathke's cleft cysts (LRCCs) and cystic craniopharyngiomas (CCPs) arise from the same embryological origin and may have similar MR presentations. However, the two tumors have different management strategies and outcomes. This study was designed to evaluate the clinical and imaging findings of LRCCs and CCPs, aiming to evaluate their pretreatment diagnosis and outcomes., Methods: We retrospectively enrolled 20 patients with LRCCs and 25 patients with CCPs. Both tumors had a maximal diameter of more than 20 mm. We evaluated the patients' clinical and MR imaging findings, including symptoms, management strategies, outcomes, anatomic growth patterns and signal changes., Results: The age of onset for LRCCs versus CCPs was 49.0 ± 16.8 versus 34.2 ± 22.2 years (p = .022); the following outcomes were observed for LRCCs versus CCPs: (1) postoperative diabetes insipidus: 6/20 (30%) versus 17/25 (68%) (p = .006); and (2) posttreatment recurrence: 2/20 (10%) versus 10/25 (40%) (p = .025). The following MR findings were observed for LRCCs versus CCPs: (1) solid component: 7/20 (35%) versus 21/25 (84%) (p = .001); (2) thick cyst wall: 2/20 (10%) versus 12/25 (48%) (p = .009); (3) intracystic septation: 1/20 (5%) versus 8/25 (32%) (p = .030); (4) snowman shape: 18/20 (90%) versus 1/25 (4%) (p < .001); (5) off-midline extension: 0/0 (0%) versus 10/25 (40%) (p = .001); and (6) oblique angle of the sagittal long axis of the tumor: 89.9° versus 107.1° (p = .001)., Conclusions: LRCCs can be differentiated from CCPs based on their clinical and imaging findings, especially their specific anatomical growth patterns. We suggest using the pretreatment diagnosis to select the appropriate surgical approach and thus improve the clinical outcome., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Rathke's cleft cysts (RCCs) are benign epithelial lesions arising from the Rathke's pouch remnants that fail to regress during embryogenesis. Some RCCs become symptomatic and require treatment. Cyst fenestration and drainage of its contents is the preferred procedure to treat symptomatic cases but carries a risk of recurrence. We propose the use of a novel modified nasoseptal flap technique to partially line the cyst wall to avoid recurrence., Methods: This was a prospective, observational study that included all RCC patients admitted to the Department of Neurosurgery, Aster Medcity, from April 2015 to May 2018. The modified nasoseptal flap technique was performed in all patients. They underwent preoperative and postoperative ophthalmological, endocrine, endoscopic, and MRI evaluations to look for recurrence., Results: Ten patients underwent the modified nasoseptal flap technique. The median follow-up was 36 months. Postoperatively, all patients were relieved from headaches. Moreover, their visual fields and pituitary functions normalized. None of the patients developed recurrence of RCC on follow-up brain MRI. On endoscopic examination, all patients had retained patency of the fenestra. The longest follow-up was 72 months., Conclusions: The modified nasoseptal flap technique maintains patency and avoids recurrence of RCCs on long-term follow-up., Competing Interests: None

Nonneoplastic epithelial cysts involving the central nervous system are diverse and are predominantly developmental in origin. This study represents a surgical series describing the histopathological features of 507 such epithelial cysts with clinical and imaging correlation. Age at surgery ranged from 7 months to 72 years (mean: 33 years) affecting 246 male and 261 female patients. Colloid cyst was the most frequently resected cyst, followed by epidermoid cyst, arachnoid cyst, Rathke cleft cyst, dermoid cyst, neurenteric cyst, Tarlov cyst, and choroid plexus cyst. Diagnosis was based on the location of the cysts and the nature of the lining epithelium. Rathke cleft cyst showed the highest propensity for squamous metaplasia, significant inflammation, and xanthogranulomatous reaction. Ulceration of lining epithelium and calcification were most frequent in dermoid cyst. Radiopathological concordance was maximal for colloid cyst, followed by epidermoid and arachnoid cysts. Epidermoid and dermoid cysts exhibited the highest propensity for local tumor progression, followed by Rathke cleft cyst., (© 2022 Japanese Society of Neuropathology.)

Purpose: T2 hypointense signal at the posterior edge of the adenohypophysis (T2HSPA) on magnetic resonance imaging (MRI) is incidentally encountered. We aimed to investigate the prevalence and morphology of T2HSPA and their relationship to age., Methods: A total of 212 cases between 3 and 88 years old were examined. Sagittal T2-weighted image (T2WI) was evaluated for the presence of T2HSPA, which classified by its morphology into two types (belt-like or nodal). The Wilcoxon rank sum test and chi-square test were used to evaluate the differences between the groups. The T2HSPA was extracted by ImageJ software and measured as a cross-sectional area (CSA) quantitatively by threshold setting. We examined the relationship between CSA of T2HSPA and age, and Spearman's correlation coefficients were used for statistical analysis., Results: Of the 212 cases, 80 (37.7%) were identified with T2HSPA. The groups with T2HSPA were significantly younger than the groups without it (p = .01). Groups with belt-like T2HSPA were significantly younger than the groups with nodal T2HSPA (p = .01). There was a weak negative correlation between CSA of T2HSPA and age (p = .02)., Conclusion: T2HSPAs were incidentally detected in 37.7% of all cases, tended to be more common in younger cases, and their morphology was related to age. They seem to have little clinical significance as they tend to decrease in size with age., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Pineal volume reductions have been reported in schizophrenia and clinical high-risk states for the development of psychosis, supporting the role of melatonin dysregulation in the pathophysiology of psychosis. However, it remains unclear whether pineal volume is associated with the later onset of psychosis in individuals at clinical high-risk (CHR) of psychosis or if pineal atrophy is specific to schizophrenia among different psychotic disorders., Methods: This magnetic resonance imaging study examined the volume of and cyst prevalence in the pineal gland in 135 individuals at CHR of psychosis [52 (38.5%) subsequently developed psychosis], 162 with first-episode psychosis (FEP), 89 with chronic schizophrenia, and 87 healthy controls. The potential contribution of the pineal morphology to clinical characteristics was also examined in the CHR and FEP groups., Results: Pineal volumes did not differ significantly between the CHR, FEP, and chronic schizophrenia groups, but were significantly smaller than that in healthy controls. However, pineal volumes were not associated with the later onset of psychosis in the CHR group or FEP sub-diagnosis (i.e., schizophrenia, schizophreniform disorder, affective psychosis, and other psychoses). No significant differences were observed in the prevalence of pineal cysts between the groups, and it also did not correlate with clinical characteristics in the CHR and FEP groups., Conclusion: These results suggest that pineal atrophy is a general vulnerability marker of psychosis, while pineal cysts do not appear to contribute to the pathophysiology of psychosis., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test. MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipital horn of the lateral ventricle, and an importantly enlarged mesencephalic tectum observed in association with an absent cerebellar vermis. The ensemble of malformations met the criteria for definite OCCS. Being a tremendously rare syndrome, OCCS will always represent a diagnostic challenge. However, its emblematic cutaneous manifestations might be an important part of the road map leading to its correct interpretation. Thus, when absent, diagnosis can be harder than usual, and, on these cases, neurologists, ophthalmologists, and radiologists play a crucial role., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Intracranial ependymal cysts (IECs) are rare, histologically benign neuroepithelial cysts that mostly occur in the cerebral parenchyma. The majority of these cysts are clinically silent and discovered incidentally, but when symptomatic they may compress surrounding structures, thus surgical intervention is needed. The current data in the literature about ECs is very scarce, and many are misdiagnosed, once they share many radiological characteristics with a variety of intracranial benign cysts. Also their terminology is confusing, and its definitive diagnosis can only be made through a thorough histopathological study, hence a detailed description about these uncommon lesions is necessary. The correct identification of the lesion lead to our better understanding of the condition and further improvement of the patient's prognosis., Methods: A descriptive case is presented; moreover, a detailed PubMed search according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline was performed. The data found was analyzed by various criteria in order to correctly describe the characteristics of this lesion., Results: The literature review gathered 9 descriptions of patients with IECs with a diverse range anatomopathological and clinical manifestations. All of the included studies found were case reports. Moreover, the authors suggest an updated classification of the lesion, involving their immunohistochemical characteristics., Conclusions: The information obtained from this study highlights IECs rarity and their inaccurately classification. We propose that the definitive diagnosis of IECs shall be made upon histopathological confirmation of an ependyma-lined cyst along with a positive glial fibrillary acidic protein (GFAP)., (Copyright © 2022. Published by Elsevier Ltd.)

Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involved in fOS metabolism, has elicited increased interest in fOS processing. The catabolism of fOSs has been linked to the activity of a specific cytosolic mannosidase, MAN2C1, which cleaves α1,2-, α1,3-, and α1,6-mannose residues. In this study, we report the clinical, biochemical, and molecular features of six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1; the individuals are from four different families. These individuals exhibit dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Complementation experiments with isogenic MAN2C1-KO HAP1 cells confirm the pathogenicity of three of the identified MAN2C1 variants. We further demonstrate that MAN2C1 variants lead to accumulation and delay in the processing of fOSs in proband-derived cells. These results emphasize the involvement of MAN2C1 in human neurodevelopmental disease and the importance of fOS catabolism., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2021. Published by Elsevier Inc.)

Background: Symptomatic cysts of the septum pellucidum (CSP) are extremely rare in children and surgical indications are not well defined. A very careful clinical and neuroradiologic evaluation is necessary to consider a patient for surgical indication., Methods: We present a surgical series of 7 pediatric patients. Clinical and radiological features of the patients, including clinical presentation, previous treatment, pre, and post-operative MRI, immediate postoperative, neuropsychiatric assessment, and outcomes were reviewed., Results: There were 5 males and 2 females (mean age 8 yrs). Five patients presented a history of severe intermittent headaches, two of them were admitted with acute symptoms of raised intracranial pressure. One patient presented Epilepsy and ADHD and one patient had severe psychosis. Overall, psychiatric disorders were diagnosed in six patients, three patients had Intellectual Disability (ID). In all cases, the cyst presented a ballooning feature, with a mean volume of 18,36 cm3 (range 10,62-28,5) and significant lateral bulging of both layers. All were operated on endoscopically without complications. After surgery, a very significant decrease in cyst volume was observed (mean volume 5,68 cm3; range 3,18-10,1) with complete disappearance of the ballooning aspect. Headaches resolved in all patients. In two patients operated in emergency papilloedema and vision improved in the first week after surgery. No recurrence of the cysts was noted during follow-up in all patients., Conclusions: CSP may be associated with behavioral or psychiatric problems also in children. Neuroendoscopic surgery is a safe and effective therapeutic modality to treat CSP presenting with symptoms and signs of intracranial hypertension with good clinical results., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Purpose: To evaluate the ophthalmic features of Rathke's cleft cyst (RCC) and its association with radiological characteristics., Methods: In this retrospective single-center study, patients who showed typical findings suggestive of RCC on magnetic resonance imaging (MRI) and underwent relevant ophthalmic examination were recruited retrospectively. Patients were stratified into two groups according to the presence or absence of ophthalmic symptoms related to RCC. We reviewed patients' demographic information, initial symptoms, endocrinological status, ophthalmic features, and characteristics of MRI. Height, size and location of RCC, as well as the optic chiasm displacement assessed from MRI., Results: Thirty-three patients (20 women and 13 men) were included in this study from among 335 patients with RCC on MRI. Fifteen patients had ophthalmic manifestation related to the cyst (Ophthalmic group), whereas 18 patients were not (Non-ophthalmic group). Headache was the most common initial symptom (15 patients, 45.5%), followed by visual disturbance (7, 21.2%), diplopia (1, 3.0%), retro-orbital pain (1, 3.0%), galactorrhea (1, 3.0%), and peripheral extremity discomfort (1, 3.0%). In seven asymptomatic patients (21.2%), the lesion was an incidental finding during a regular medical examination. Ophthalmic manifestation included visual field defect (14 patients, 93.3%) and diplopia (1 patient, 6.7%). The height, volume, and the coronal and sagittal displacements were larger in the ophthalmic group ( P < .001, all). Eleven patients who manifested ophthalmic symptoms underwent excision surgeries and nine of them (81.8%) experienced visual function improvement., Conclusion: Appropriate ophthalmic examinations are warranted in patients with RCC, and treatment should be actively considered in patients with ophthalmic manifestations.

Background: Rathke cleft cysts (RCCs) are benign sellar lesions originating from remnants of primitive ectoderm. They have not been previously linked to other cystic lesions, such as pineal cysts (PCs). Our objective was to perform a multicenter cross-sectional neuroimaging study to examine prevalence rates of coexisting RCC and PC., Methods: We retrospectively queried prospectively maintained, institutional review board-approved, databases from the authors' centers. All patients undergoing transsphenoidal surgery for RCC between the years of 2011 and 2020 were included for analysis. Preoperative magnetic resonance imaging was reviewed to identify the coexistence of a PC. Patient demographics and neuroimaging characteristics were recorded. A control cohort comprised of 100 age- and sex-matched patients with nonfunctional pituitary adenoma (NFPA) who also underwent surgical intervention was utilized., Results: Eighty-four patients with RCC were identified for analysis. A coexistent PC was identified in 40.5% (n = 34) of patients with RCC compared with 14.3% (n = 12) in the NFPA cohort (P < 0.001). There was no significant difference in PC size between patients with RCC and PA (8 vs. 8.8 mm, respectively; P = 0.77). Although the majority (85.7%; n = 72) of the RCC cohort were female patients, there was no sex predominance with respect to coexisting PC in either the RCC or PA cohort., Conclusions: This is the first study to report an increased prevalence of coexisting PC and RCC, possibly because of an embryologic link or other propensity for intracranial cyst formation. Additional studies in more generalizable populations can further explore the relation between RCC and PC, or other cyst formation., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Rathke's cleft cyst (RCC) is a common incidental tumor in the hypothalamic-pituitary region. Some reports have shown that the clinical symptoms and endocrine functions of symptomatic RCCs are temporarily improved by glucocorticoid administration. However, it is still unknown whether glucocorticoid treatment is effective for symptomatic RCCs according to long-term observations. In this study, we describe the long-term clinical outcomes of two cases of glucocorticoid-treated biopsy-proven secondary hypophysitis caused by RCCs. We summarize the symptoms, imaging findings, and endocrine evaluations of two symptomatic RCC patients with concomitant hypophysitis before and after prednisolone treatment. In both evaluated cases, visual impairments and altered endocrine parameters were present due to chiasm and stalk compression; these outcomes improved after shrinkage of RCCs in response to prednisolone administration, and partial recovery of anterior pituitary hormone secretion was observed. However, in both cases, the deficits in anterior pituitary hormone secretion recurred, possibly due to persistent inflammatory infiltration in the RCCs and pituitary glands. After relapse of hypophysitis, anterior hormone secretion did not fully recover. In our cases of secondary hypophysitis caused by RCCs, prednisolone administration had an early effect of cyst shrinkage, followed by partial improvements in clinical symptoms and pituitary functions. However, long-term observation showed that prednisolone treatment did not contribute to complete improvement in anterior pituitary hormone dysfunction.

Abstract: Mass lesions in the brain encompass a wide range neoplastic and nonneoplastic entities. These can present as a diagnostic pitfall, with nonspecific, overlapping symptoms and similar appearances on radiology. They may cause death through varied mechanisms, either specific to the underlying pathophysiology or due to the space-occupying effect of the lesion. We report a case of fatal hemorrhagic cerebral pseudocyst, a rare mass lesion, associated with a cerebral varix, causing death in a morbidly obese individual. To the best of our knowledge, there is no previous documentation in the postmortem literature of this entity as a cause of death. This case aims to document this rare entity in the differential diagnosis of a tumor-like lesion in the brain, highlight the clinical difficulty in its assessment, and demonstrate an uncommon mechanism of death, of a mass lesion acting as a focus causing seizures, with resulting hypoxia due to effects of morbid obesity and heart failure., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

IgG4-related hypophysitis (IgG4-RH) is increasingly being reported as an isolated entity or, less frequently, as a manifestation of a multiorgan IgG4-related disease (IgG4-RD), in which typical histopathology is a cornerstone for the diagnosis. We aimed to describe the histopathological changes in the surgical specimens from patients with clinical signs of pituitary disease that fulfilled the current diagnostic criteria for IgG4-RH. Histopathological features were correlated with clinical and radiological findings. Of 19 patients with pituitary dysfunction and inflammatory changes in the surgical pituitary specimen operated on during 2011-2019, we identified five patients with typical IgG4-related pathology (lymphoplasmacytic infiltration with more than 10 IgG4-positive plasma cells per one high power microscopic field, representing at least 40% of all plasma cells and at least focal storiform fibrosis). One patient with diabetes insipidus and pachymeningitis with IgG4-related changes in a biopsy from the dura was also included. Additional histopathological changes that typically are not part of the IgG4-RH were observed: Rathke's cleft cyst in four and granulomatous changes in two patients. One patient had an elevated serum IgG4 level and systemic manifestations that could be associated with the systemic IgG4-RD. Our findings indicate that pure IgG4-RH is uncommon. All patients with pituitary dysfunction, beyond typical IgG4-related pathology, had other pathological findings that could trigger the secondary IgG4-response. Both primary pathology and secondary IgG4-related features should be reported in patients with pituitary dysfunction because their co-occurrence may cause atypical clinical and imaging features, and unexpected response to surgical and pharmacological treatment. The current criteria for the diagnosis of IgG4-RH can lead to overdiagnosis of IgG4-RH if additional pathological changes are not taken into consideration. The classification criteria of IgG4-RD proposed by the American College of Rheumatology/European League Against Rheumatism could help classify patients more properly as IgG4-RH if applied to the pituitary gland., (© 2021 The Authors. Journal of Neuroendocrinology published by John Wiley & Sons Ltd on behalf of British Society for Neuroendocrinology.)

Background: Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome., Materials and Methods: The comprehensive ophthalmic findings were presented, as well as treatment history and systemic manifestations. In addition, genetic testing was performed to confirm the diagnosis., Results: Examination under anesthesia showed notable retinal vasculopathy, including vascular tortuosity and dilation, abnormal vascular anastomosis, retinal telangiectasias and mild exudation, extensive peripheral avascularity, as well as the presence of retinal neovascularization. The patient developed vitreous hemorrhage and tractional retinal detachment, and then underwent vitrectomy. Meanwhile, the patient was noted to have growth retardation and leukoencephalopathy. Gene testing identified a compound heterozygous mutation in CTC1 gene: a novel splicing site mutation (c.33 + 1 G > T) and a deletion mutation (c.2954&#95;2956del, p.C985del), which were inherited from his mother and father, respectively., Conclusions: The present report expanded the genotype and phenotype spectrum of CTC1 gene associated with Coats plus syndrome.

Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118 . We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed paraffin-embedded tissue sections by hematoxylin and eosin, elastic van Gieson, and luxol fast blue. Immunohistochemistry stains against glial fibrillary acidic protein, proteolipid protein, phosphorylated neurofilament, CD31, alpha-interferon, LN3, and inflammatory markers were performed. Gross examination revealed dark tan/gray appearing white matter with widespread calcifications. Microscopy revealed a diffuse destructive process due to a vasculopathy with secondary ischemic lesions and mineralization. The vasculopathy involved clustered small vessels, resembling vascular malformations, and sporadic lymphocytic infiltration of vessel walls. The white matter was also diffusely abnormal, with concurrent loss of myelin and axons, tissue rarefaction with multifocal cystic degeneration, and the presence of foamy macrophages, secondary calcifications, and astrogliosis. The midbrain, pons, and cerebellum were diffusely involved. It is not understood why variants in SNORD118 result in a disorder that predominantly causes neurological disease and significantly disrupts the cerebral vasculature. Clinical and radiological benefit was recently reported in an LCC patient treated with Bevacizumab; it is important that these patients are rapidly diagnosed and trial of this treatment modality is considered in appropriate circumstances.

Epidermoid cysts (ECs) are benign extraaxial tumors. They frequently occur at the cerebellopontine angle and parasellar regions. However, they rarely occur in the Meckel's cave. Typically, ECs appear as a hypointense mass on T1-weighted magnetic resonance imaging (MRI) and hyperintense on T2-weighted MRI. However, ECs may occasionally present as hyperintense on T1-weighted imaging and hypointense on T2-weighted imaging. When this occurs, they are known as white epidermoid cysts. We present a case of a 25-year-old woman with a 3-month history of hypoesthesia in the distribution of the right trigeminal nerve. MRI showed a lesion located within the Meckel's cave. The MRI signal was heterogeneous, with hyperintense areas on T1-weighted images, being hypointense on T2-weighted imaging. Preoperative suspicion was trigeminal schwannoma with unusual radiologic features. Finally, the pathologic diagnosis was epidermoid cyst. Therefore to establish a proper preoperative diagnosis, one should be aware that ECs can occur in Meckel's cave and with unusual radiologic features, as occurred in the case described earlier., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Pineal cysts are a common incidental finding on brain magnetic resonance imaging (MRI) whichfrequently prompts referral to neurosurgery. Currently, a management algorithm for patientswithout hydrocephalus, Parinaud's syndrome, or pineal apoplexy is lacking.We aimed to identifypredictive factors of pineal cyst volume change andsurgical intervention by performing retrospective chart review of 98 patients between 2005 and 2018 diagnosed with pineal cysts gleaned from our Neurosurgery clinical databases.We included patients whose initial and follow-up MRIs were available in our institutional radiology system or whose surgical pathology confirmed pineal cyst after evaluation with an initial MRI. Patients' medical records were queried for presenting symptoms, demographic, management, and pineal cyst measurements. Three dimensions (anterior-posterior, rostral-caudal, transverse) of pineal cyst size were measured and converted to cyst volume (cm 3 ) for analysis. Fifty-five patients (mean age 26.09 ± 14.7 years) with pineal cysts met study criteria. Follow-up ranged from 4 months to 10 years. The indications for MR imaging included headache (81.8%) and vision problems (42%).Forty-eight patients who were observed had a mean volume change of 0.051 ± 0.862 cm [3] and median volume change of 0 cm [3] Patient symptoms, referral source, and age were not associated with changes in volume on follow-up. Aggregated number of symptoms did not differ between operative and observation patients. (p = 0.29). Pineal cyst volumes tend to remain stable over serial MR images, do not reliably correlate with symptoms, and do not typically require long-term follow-up., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Aims: The present study aimed to evaluate the clinical usefulness of endoscopic treatment of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus and discuss the clinical features and outcomes of thirteen children treated at our institution., Method: We treated thirteen pediatric cases of suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus between January 2012 and September 2018. Five female and eight male patients were enrolled in the study. The patients had increased intracranial pressure symptoms due to hydrocephaly. Endoscopic treatment was performed in all cases., Results: The patients were followed-up for an average of 36.8 months. The postoperative intracranial pressure findings improved. There was a reduction in the size of the cyst and ventricles and enlargement of the cortical sulci. One patient suffered transient oculomotor nerve deficit. No further surgical interventions, such as shunt placement, were required during the follow-up period. The head circumference of two of the patients with macrocephaly were stable during the follow-up. There were no postoperative recurrences detected., Conclusions: Endoscopic cyst fenestration and third ventriculostomy are less invasive, safer, and more effective ways to treat suprasellar arachnoid cysts indenting the third ventricle with obstructive hydrocephalus in children with hydrocephaly., Competing Interests: None

This case report describes a patient who presented to the emergency department with intermittent visual disturbance and was found to have convergence-retraction nystagmus. This occurred in the setting of supratherapeutic anticoagulation on warfarin for an aortic dissection graft repair. Urgent imaging demonstrated haemorrhagic transformation of a previously identified incidental pineal cyst. After close monitoring given the risk of secondary hydrocephalus, the patient was discharged in stable condition with symptom resolution and without any further significant complications. This case report highlights the importance of identifying subtle clinical findings and the risk of secondary haemorrhage of pineal cysts when on anticoagulation. While the risk of secondary hydrocephalus is a significant concern, clinically stable patients can be followed without need for neurosurgical intervention., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Leukoencephalopathy with brain calcifications and cysts (LCC) is a rare cerebral microangiopathy, the cause of which was recently determined to be recessively inherited mutations in the SNORD118 gene. We report the case of a 32-year-old Irish Traveller woman who presented to the emergency department in convulsive status epilepticus with abnormal neuroimaging features characteristic of LCC. Her medical history consisted of epilepsy, intellectual impairment, previous craniotomies for excision of cerebral cysts and resection of a tibial osteogenic sarcoma. Whole exome sequencing identified a previously described homozygous variant, NR&#95;033294.1 n.*5C>G, in the 3' UTR of the SNORD118 gene. Her sister was subsequently found to be homozygous for the same variant but with a significantly milder clinical phenotype consisting of migraine without aura and mild, non-specific, cerebral white matter changes on neuroimaging. Knowledge of the existence of LCC within this population means that targeted genetic testing for this specific mutation should be considered in Irish Traveller patients presenting with the characteristic clinical and radiological features. Given the striking phenotypic variability seen within this family, LCC should also be considered in Irish Traveller patients even in the absence of the complete radiological triad.

The transcription factor ISL1 is expressed in pituitary gland stem cells and the thyrotrope and gonadotrope lineages. Pituitary-specific Isl1 deletion causes hypopituitarism with increased stem cell apoptosis, reduced differentiation of thyrotropes and gonadotropes, and reduced body size. Conditional Isl1 deletion causes development of multiple Rathke's cleft-like cysts, with 100% penetrance. Foxa1 and Foxj1 are abnormally expressed in the pituitary gland and associated with a ciliogenic gene-expression program in the cysts. We confirmed expression of FOXA1, FOXJ1, and stem cell markers in human Rathke's cleft cyst tissue, but not craniopharyngiomas, which suggests these transcription factors are useful, pathological markers for diagnosis of Rathke's cleft cysts. These studies support a model whereby expression of ISL1 in pituitary progenitors drives differentiation into thyrotropes and gonadotropes and without it, activation of FOXA1 and FOXJ1 permits development of an oral epithelial cell fate with mucinous cysts. This pituitary-specific Isl1 mouse knockout sheds light on the etiology of Rathke's cleft cysts and the role of ISL1 in normal pituitary development.

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.

Rathke's cleft cysts (RCCs) are benign growths of the embryological Rathke's pouch. Surgical decompression provides effective symptomatic relief in most cases; however, the effect of gross total resection (GTR) of the cyst wall on recurrence, as well as pituitary function, is unclear. The aim of this meta-analysis was to pool the current literature and ascertain the recurrence control afforded by GTR of the cyst wall compared with subtotal resection (STR). Searches of seven electronic databases from inception to January 2019 were conducted following PRISMA guidelines, resulting in 476 articles to be screened. Outcomes were analyzed using meta-analysis of proportions. A total of 10 retrospective cohort studies satisfied selection criteria, describing 655 surgically managed RCC cases, with 254 (39%) and 401 (61%) achieving GTR and STR of the cyst wall, respectively. GTR was associated with significantly reduced overall RCC recurrence by fixed-effects (FE) modeling (RR, 0.66; 95% CI, 0.45-0.96), but not by random effects (RE) modeling (RR, 0.75; 95% CI, 0.51-1.12). Based on both models, GTR was associated with significantly reduced symptomatic recurrence (RE model, RR, 0.37, 95% CI, 0.14-0.95) and significantly increased postoperative diabetes insipidus (RE model, RR, 2.60; 95% CI, 1.34-5.03). There was insufficient data to evaluate other pituitary axes in this context. The current evidence indicates that GTR of the RCC cyst wall has the potential to affect the incidence of overall and symptomatic RCC recurrences, as well as drive postoperative DI incidence. However, expectations of clinical and pragmatic benefit following cyst wall resection should be titrated carefully against the potential for postoperative and pituitary morbidities which currently remain poorly defined. Greater granularity is required to understand all factors that can influence recurrence and quality of life when evaluating resection of RCC.

Sellar region lesions include a broad range of benign and malignant neoplastic as well as non-neoplastic entities, many of which are newly described or have recently revised nomenclature. In contrast to other intracranial sites, imaging features are relatively less specific, and the need for histopathological diagnosis is of paramount importance. This review will describe pituitary adenomas, inflammatory lesions, and tumors unique to the region (craniopharyngioma) as well as tumors which may occur in but are not exclusively localized to the sellar location (schwannoma, metastasis, etc.)., Competing Interests: Disclosure The authors have no relevant financial or commercial disclosures. No specific funding sources were used in the writing of this article., (Copyright © 2020 Elsevier Inc. All rights reserved.)

How mutations in the non-coding U8 snoRNA cause the neurological disorder leukoencephalopathy with calcifications and cysts (LCC) is poorly understood. Here, we report the generation of a mutant U8 animal model for interrogating LCC-associated pathology. Mutant U8 zebrafish exhibit defective central nervous system development, a disturbance of ribosomal RNA (rRNA) biogenesis and tp53 activation, which monitors ribosome biogenesis. Further, we demonstrate that fibroblasts from individuals with LCC are defective in rRNA processing. Human precursor-U8 (pre-U8) containing a 3' extension rescued mutant U8 zebrafish, and this result indicates conserved biological function. Analysis of LCC-associated U8 mutations in zebrafish revealed that one null and one functional allele contribute to LCC. We show that mutations in three nucleotides at the 5' end of pre-U8 alter the processing of the 3' extension, and we identify a previously unknown base-pairing interaction between the 5' end and the 3' extension of human pre-U8. Indeed, LCC-associated mutations in any one of seven nucleotides in the 5' end and 3' extension alter the processing of pre-U8, and these mutations are present on a single allele in almost all individuals with LCC identified to date. Given genetic data indicating that bi-allelic null U8 alleles are likely incompatible with human development, and that LCC is not caused by haploinsufficiency, the identification of hypomorphic misprocessing mutations that mediate viable embryogenesis furthers our understanding of LCC molecular pathology and cerebral vascular homeostasis., (Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

The most common sellar pathology that merits neurosurgical attention is the pituitary adenoma. However, some developmental, inflammatory, and neoplastic lesions may primarily or secondarily involve the sella, mimicking pituitary tumors. Advances in imaging and endocrinological assessment have helped in the recognition of these less common sellar, supra sellar pathologies, which may occasionally create confusion in management. The most common developmental anomaly is the Rathke's cleft cyst and an increasingly recognized inflammatory pathology is the spectrum of hypophysitis. Neoplasms, viz. Craniopharyngioma, Germinoma, Langerhans's cell histiocytosis or metastasis, have more distinctive features in various age groups and are more likely to be correctly diagnosed on current imaging and managed accordingly. This review looks at mainly intraparenchymal pathologies, namely Rathke's Cleft Cyst and various hypophysitides, and will discuss their management strategies., Competing Interests: None

Introduction: Cystic sellar salivary gland-like lesions (CSSLs) are exceedingly rare, with fewer than a dozen case reports. They contain amorphous colloid identical to Rathke cleft cyst contents, but the cyst wall additionally shows cohesive aggregates of benign salivary glands. We report three new examples., Materials and Methods: Two cases were seen at University of Colorado Denver and one at Memorial Sloan Kettering (MSK). Molecular testing was attempted on two of three., Results: Case 1 is a 20-year-old female who presented with panhypopituitarism and was found to have a suprasellar mass that proved to be a CSSL. She received no postoperative adjuvant therapy, but recurrence of headaches and blurred vision 2 years later prompted return to medical attention. A much smaller local cyst recurrence was now accompanied by a thickened, bulbous infundibular stalk. Second resection yielded a gliotic infundibular stalk and amorphous mucin, but no residual salivary-like glands. She is without further recurrence on 6-year follow-up. Case 2 is a 29-year-old female with headache; while seen initially at a tertiary care center, diagnosis was only made after consultation at MSK. Case 3 is 68-year-old female who had originally presented with apoplexy to an outside hospital 7 years prior to surgery and diagnosis. Molecular testing was uninformative on case 1 and negative for mutations or fusions on case 3., Conclusion: Few pathologists or neuropathologists have encountered CSSLs in their practices; case 1 produced recurrence and significant infundibular stalk damage, and case 3 originally manifested apoplexy, features not previously reported.

Purpose: To compare postoperative macular thickness measurements of inner and outer retinal layers in eyes of patients with chiasmal compression with or without visual field (VF) recovery and healthy controls using optical coherence tomography (OCT)., Methods: Macular spectral-domain OCT has been used for the auto-segmentation of images obtained from 100 eyes affected with chiasmal compression compared with 100 healthy controls enrolled in this study. We have divided eyes with chiasmal compression into two groups: group 1 characterized by VF recovery after tumour excision and group 2 showing partial or no recovery of VF. The thickness of the macular retinal nerve fibre layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), photoreceptor layer (PRL), inner retinal layer (IRL) and outer retinal layer (ORL) was segmented. The correlation between macular RNFL (mRNFL) and functional parameters has been analysed., Results: Both groups 1 and 2 showed significant thinning of RNFL, GCL, IPL and IRL in all quadrants. However, no significant changes have been detected in PRL and ORL of patients in either group compared with healthy controls. A significant thickening was detected in INL and ONL of group 2 compared with healthy controls and group 1. Postoperative mRNFL thickness is significantly correlated with VF defects and visual acuity except temporal quadrant., Conclusions: Eyes with chiasmal compression showed thinning of the inner retinal layers with thickening of the INL and ONL in patients with partial to no recovery of VF. The changes in retinal microstructures are well-correlated with functional recovery. Further studies are needed to reveal the clinical implications of these findings in patients with chiasmal compression., (© 2019 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)