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Teaching point: Persistent hypoglossal artery is an extremely rare anatomical variant but has diagnostic and therapeutic relevance.

Abstract Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case presentation We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. Conclusions Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.

A 50-year-old male presented to our institution for embolization of an incidentally detected mediastinal mass prior to surgical resection. The patient had undergone extensive pre-procedural imaging as well as bronchoscopy and mediastinoscopy. Ultimately, resection was required for a definitive diagnosis of congenital ectopic mediastinal accessory spleen. This case represents the first reported incidence of ectopic splenic tissue in this location and illustrates the difficulties in establishing a pre-operative diagnosis with often confounding imaging findings.

We present a case of a vascular ring formed by the left brachiocephalic vein. A left brachiocephalic vein ring or circum-aortic left brachiocephalic vein is a rare congenital vascular variant. Although it is usually an incidental finding on chest imaging studies, left brachiocephalic vein anomalies, particularly the ring variant, can be clinically significant during procedures requiring installation of transvenous implantable devices such as pacemakers. In this report, we illustrate the appearance on computed tomography of this rare anomaly and discuss an embryological hypothesis for the etiology.

Discoid meniscus is the most common congenital variant of the meniscus. Its variability in pathology leads to a spectrum of clinical presentations in patients. Treatment must be tailored to the specific pathology of the discoid meniscus. Imaging studies such as radiographs and magnetic resonance imaging can be useful in confirming the diagnosis, but may be the most accurate in determining specific pathology. Thorough intraoperative evaluation of the discoid is critical to appropriate surgical management. Rim preservation and repair is preferred to prevent degenerative changes in the knee. [ABSTRACT FROM AUTHOR]

Background: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case presentation: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. Conclusions: Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case. [ABSTRACT FROM AUTHOR]

This case report describes a unique presentation of May-Thurner syndrome (MTS) in a 28-year-old woman, characterized by the congenital bifurcation of the left common iliac vein (LCIV) into the outer (OLCIV) and inner (ILCIV) segments. Both veins experienced significant compression - OLCIV proximally and ILCIV medially - due to the overlying right common iliac artery (RCIA) and lumbar spine. The patient presented with bilateral spider veins, lower extremity swelling, pelvic discomfort, and bilateral leg cramping. Detailed imaging with venous duplex ultrasound, venography, and intravascular ultrasound (IVUS) revealed not only chronic venous insufficiency in the greater saphenous veins but also this rare vascular anomaly. Interventional treatment involved the strategic deployment of two stents to address the dual venous compression. A 16 mm x 90 mm stent was placed in the OLCIV at the site of proximal compression, followed by the insertion of a 16 mm x 60 mm stent in the ILCIV to relieve the medial compression. The successful resolution of venous obstruction was confirmed by post-procedural venography and IVUS. This case underscores the critical role of comprehensive anatomical evaluation, including advanced imaging techniques, in the diagnosis and management of complex venous disorders. The effective use of stenting in this rare "double May-Thurner syndrome" demonstrates the potential for targeted endovascular interventions in similarly challenging cases., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Meeus et al.)

Persistent left superior vena cava (PLSVC) is a common congenital thoracic venous anomaly. Asymptomatic cases are often diagnosed incidentally during invasive cardiovascular procedures such as the placement of central venous access catheters. It is important for the physicians to be aware of clinical implications that may occur during catheter placement. We describe our experience with PLSVC during the placement of a tunneled hemodialysis (HD) catheter (permcath) through the left internal jugular venous route. The diagnosis was confirmed by contrast-enhanced computed tomography. PLSVC can be a potential site for HD catheter placement.

The forkhead box G1 ( FOXG1 ) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4 months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs. A novel missense mutation was identified in FOXG1 on gene analysis (c. 569T>A, p. Ile190Asn). The patient showed not only the typical cerebral abnormalities of a congenital variant of RTT, but also a hypoplastic hippocampus. This novel mutation and cerebral findings may provide new insights into the pathophysiology of the congenital variant of RTT. [ABSTRACT FROM AUTHOR]

Background: Forkhead box G1 gene (FOXG1) mutations and deletions are associated with a congenital variant of Rett syndrome (RTT). Nucleotide alterations of the coding region of FOXG1 have never caused dysmorphic features. Patient: An 8-year-old boy with the congenital variant of RTT who showed severe psychomotor deterioration, epilepsy, acquired microcephaly, and involuntary movements including jerky movements of the upper limbs and tongue protrusion. He showed dysmorphic features including round face, anteverted nostrils, and tented upper lips. Brain magnetic resonance imaging showed hypoplasia of the frontal lobes and the rostral part of the corpus callosum. The molecular cytogenetic analysis confirmed a de novo deletion of 14q12 including FOXG1 in this patient. Conclusion: We identified the smallest deletion of 14q12 involving FOXG1 among those previously reported. Dysmorphic facial features are a characteristic for the patients with chromosomal deletion including FOXG1. In our patient, C14orf23 is the only transcript other than FOXG1. Therefore, C14orf23 might be responsible for facial dysmorphism. [ABSTRACT FROM AUTHOR]

Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A. FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain-specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of RTT. Here we report the clinical features and molecular characteristics of two cases of the congenital variant of RTT. We conducted mutation screenings of FOXG1 in a cohort of 15 Japanese patients with a clinical diagnosis of atypical RTT but without MECP2 and CDKL5 mutations. Two unrelated female patients had heterozygous mutations (c.256dupC, p.Gln86ProfsX35 and c.689G>A, pArg230His). Both showed neurological symptoms from the neonatal period, including hypotonia, irritability and severe microcephaly. Further, their psychomotor development was severely impaired, as indicated by their inability to sit unaided or acquire speech sounds, and they had a hyperkinetic movement disorder, because both displayed hand stereotypies and jerky movements of the upper limbs. Brain magnetic resonance imaging scans revealed delayed myelination with hypoplasia of the corpus callosum and frontal lobe. These cases confirm the involvement of FOXG1 in the molecular etiology of the congenital variant of RTT and show the characteristic features of FOXG1-related disorder. [ABSTRACT FROM AUTHOR]

Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmental delay prior to the age of 6months and later exhibited characteristic features of RTT that included air swallowing, bruxism, and hand stereotypies. Results of an array-based comparative genomic hybridization analysis indicated there was a very small microdeletion in Xq28. Multiplex ligation-dependent probe amplification analysis further confirmed there were heterozygous deletions of intron 2, exon 3, intron 3, and part of exon 4 in MECP2. Findings in the present patient confirm the view that large MECP2 deletions are an important cause of severe congenital variant RTT. To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder. [Copyright &y& Elsevier]

The Forkhead box G1 ( FOXG1) is a transcription factor that is critical for forebrain development, where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, 15 FOXG1 molecular alterations, including only eight point mutations, have been reported. We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. The screening was negative in all males, but two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in two unrelated girls. Both patients showed neurological symptoms from the neonatal period with poor reactivity, hypotonia, and severe microcephaly. During the first year of life, both patients had feeding difficulties and made slow developmental progress. At 5 years old, the girls were significantly neurologically impaired with gross hypotonia, no language, convergent strabismus, and no voluntary hand use. Moreover, they presented a combination of jerky movements, hand-mouthing, and hand-washing stereotypies. Hence, FOXG1 mutation patients demonstrate severe encephalopathy compatible with the congenital variant, as well as additional features such as absent eye contact, inconsolable crying during the perinatal period, and delayed myelination with thin to hypoplastic corpus callosum. Although the overall frequency of mutations in FOXG1 in females with severe mental retardation and microcephaly appears to be low (1.5%), our findings suggest the requirement to investigate both point mutations and gene dosage in the FOXG1 gene in patients with severe encephalopathy with microcephaly and some Rett-like features. [ABSTRACT FROM AUTHOR]