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Bing-Neel syndrome (BNS) is a rare syndrome that occurs in patients with Waldenstrom macroglobulinemia and is characterized by lymphoplasmacytic infiltration into the leptomeningeal tissue and/or the central nervous system. It represents an extramedullary manifestation which may translate into various neurological symptoms. Accurate diagnosis of BNS can be established via histologic sampling and cerebrospinal fluid examination with molecular analysis of some genetic markers including immunoglobulin heavy locus rearrangements and MYD88 L265P mutation. The use of Bruton tyrosine kinase inhibitors such as ibrutinib resulted in promising outcomes. In this review, we discuss the pathophysiology, clinical manifestations, diagnostic characteristics, and an overview of the current treatment modalities of BNS.

Hemizygous loss-of-function variants in the non-POU domain-containing, octamer-binding gene, NONO, cause X-linked mental retardation syndrome 34 (MRXS34). Here, we describe the 12th patient in the literature with this rare syndrome, the first affected male from sub-Saharan Africa. This South African patient presented with dysmorphic features, congenital cardiac abnormalities (Ebstein's anomaly, left ventricular non-compaction, and a VSD), and developmental delay. He was enrolled in our "Undiagnosed Disease Programme." Exome sequencing identified a novel hemizygous 14bp deletion in NONO, which he inherited from his unaffected, healthy mother. His features overlap with the previous patients described, lending more support to the assertion that MRXS34 is a recognizable, albeit rare, syndrome. The cardiac anomalies are particularly distinctive, which combined with a variety of other associated features, should prompt the inclusion of NONO-associated MRXS34 in the differential diagnosis.

Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Saudi Arabian families. All tested patients have been homozygous for a singleRetrospective case series.Five affected individuals (two males and three females) from two unrelated Emirati families were known to our institution (age of first signs 6 months to 10 years of age, with one asymptomatic 6-year-old boy identified by sibling screening examination). Initial ophthalmic diagnoses had been Coats disease or traumatic retinal bleeding. Characteristic retinal arteriolar trunk beading and macroaneurysms led to the actual diagnosis of RAMSVPS. One child with esotropia at 6 months of age seemed to have unilateral Coats disease until retinal signs became apparent in the contralateral eye at 4 years old. One family consented to genetic testing, and both affected siblings were homozygous for the SaudiThe distinct ophthalmic phenotype of RAMSVPS is important to recognize because of systemic implications. Retinal findings can be misinterpreted as sequelae of trauma or Coats disease and can seem unilateral in very young children until changes in the contralateral eye become apparent years later. The homozygous

Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non-congenital alopecia. Recent diagnosis of four more BABS patients provides further characterization of the phenotype of this syndrome including late-onset seizures in the oldest reported patient at 23 years of age, representing the first report for this phenotype in BABS. Neuroimaging abnormalities continue to be an inconsistent feature of the syndrome. This may be related to the yet unknown impact of ODC/polyamine dysregulation on the developing brain in this syndrome. Variants continue to cluster, providing support to a universal biochemical mechanism related to elevated ODC protein, enzyme activity, and abnormalities in polyamine levels. Recommendations for medical management can now be suggested as well as the potential for targeted molecular or metabolic testing when encountering this unique phenotype. The natural history of this syndrome will evolve with difluoromethylornithine (DFMO) therapy and raise new questions for further study and understanding.

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

After widespread vaccination with COVID-19 vaccines, there have been worldwide reports on thrombosis, bleeding, and thrombocytopenia. Recently, a rare syndrome with a high mortality rate consisting of an unusual combination of thrombocytopenia and thrombosis, in particular cerebral venous sinus thrombosis, which clinically resembles heparin-induced thrombocytopenia, was reported following vaccination. Different statements and recommendations were developed regarding the definition, diagnosis, and treatment of these rare complications. We present here a protocol with recommendations, based on current evidence. Após a generalização da vacinação contra a COVID-19, foram relatados efeitos adversos como trombose, hemorragia e trombocitopenia. Recentemente, após vacinação, foi reconhecido um síndrome raro e com mortalidade elevada, caraterizado por uma combinação não usual de trombocitopenia e trombose, em particular trombose dos seios venosos cerebrais, com muitas semelhanças com a trombocitopenia induzida pela heparina. Foram desenvolvidas diferentes recomendações na definição, diagnóstico e tratamento destas raras complicações. Apresentamos aqui, um protocolo de atuação baseado na evidência atual. info:eu-repo/semantics/publishedVersion

Background: D. Frank Benson and colleagues first described the clinical and neuropathological features of posterior cortical atrophy (PCA) from patients in the UCLA Neurobehavior Program. Objective: We reviewed the Program’s subsequent clinical experience with PCA, and its potential for clarifying this relatively rare syndrome in comparison to the accumulated literature on PCA. Methods: Using the original criteria derived from this clinic, 65 patients with neuroimaging-supported PCA were diagnosed between 1995 and 2020. Results: On presentation, most had visual localization complaints and related visuospatial symptoms, but nearly half had memory complaints followed by symptoms of depression. Neurobehavioral testing showed predominant difficulty with visuospatial constructions, Gerstmann’s syndrome, and Balint’s syndrome, but also impaired memory and naming. On retrospective application of the current Consensus Criteria for PCA, 59 (91%) met PCA criteria with a modification allowing for “significantly greater visuospatial over memory and naming deficits.” There were 37 deaths (56.9%) with the median overall survival of 10.3 years (95% CI: 9.6–13.6 years), consistent with a slow neurodegenerative disorder in most patients. Conclusion: Together, these findings recommend modifying the PCA criteria for “relatively spared” memory, language, and behavior to include secondary memory and naming difficulty and depression, with increased emphasis on the presence of Gerstmann’s and Balint’s syndromes.

The 22q11.2 Deletion Syndrome has significant impact on brain and behavior, with about 25% of individuals developing schizophrenia. The condition offers a model for prospective studies on the emergence of psychosis and advancing mechanistic hypotheses on gene-environment interactions, with magnified power for examining genome-phenome association. Here, we highlight findings that build on the International 22q11.2 Brain and Behavior Consortium and relate to several key domains in the study of psychosis-risk and schizophrenia. We examine neurocognition, olfaction and neuroimaging data that indicate similar impairment patterns in this rare syndrome and idiopathic presentation of schizophrenia. We conclude that the converging paradigms, studying psychosis dimensionally in rare and common variants samples, provide complementary approaches that will propel precision medicine in psychiatry.

Amniotic fluid embolism is a rare syndrome characterized by sudden cardiorespiratory collapse during labor or soon after delivery. Because of its rarity, many obstetrical providers have no experience in managing amniotic fluid embolism and may therefore benefit from a cognitive aid such as a checklist. We present a sample checklist for the initial management of amniotic fluid embolism based on standard management guidelines. We also suggest steps that each facility can take to implement the checklist effectively.

Heterozygous variants in USP9X are associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome characterized by neurodevelopmental delay, intellectual disability (ID), and a wide variety of additional congenital anomalies. Here, we report a girl harboring a novel de novo loss-of-function variant in USP9X (c.4091delinsAG, p.Thr1364Lysfs*7), and literature review revealed novel prenatal features associated with MRXS99F, expanding the genotypic and phenotypic landscape of the syndrome. It is important to consider X-linked diseases in girls with ID and perform directed molecular investigation to provide correct diagnosis and prognosis.

Prior to illustration of the causative genetic mutation responsible for Sotos syndrome, diagnosis was based on clinical criteria. They include characteristic facial gestalt, developmental delay, and evidence of overgrowth, in addition to other minor features as cardiacgenitourinary congenital malformation, seizures, scoliosis, among other features. Non-convulsive status epilepticus (NCSE) was not previously reported among Sotos patients.An eleven-years old boy, with developmental delay, characteristic facialskeletal features presented to the emergency department with a two-hour episode of lapse of consciousness. Electroencephalogram (EEG) showed fluctuating generalized spike-wave/poly-spike wave discharge2.5 Hertz (Hz), lasting throughout the duration of recording. Intravenous (IV) levetiracetam was associated with clinicalEEG improvementaccordingly the patient was diagnosed as NCSE. The mother reported history of polyhydramnios, febrile seizuredevelopmental delay. Through clinicalradiological assessment revealed generalized hypotonia, low intelligence quotient (IQ), congenital ureteric stricturepulmonary hypertension, prominent retro-cerebellar cistern, in addition to scoliosisfacial features suggestive of Sotos Syndrome. Six months after presentation, the patient remained seizure free on levetiracetam monotherapy.NCSE could occur in Sotos syndrome. In our case, the first reported case of NCSE in Sotos syndrome, the characteristic facialskeletal findings initiated further work up with fulfillment of the criteria required for the clinical diagnosis of Sotos syndrome.

Item does not contain fulltext INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome of pathologic immune activation. Most studies on adult HLH have evaluated prognostic factors for overall survival; factors predicting early mortality have not been sufficiently investigated. METHODS: This was a collaborative study between Henry Ford Hospital and Barnes-Jewish Hospital. We identified all adult HLH patients with at least 2 ferritin levels within 30 days from admission. RESULTS: One-hundred twenty-four patients were identified. There were 77 males and 47 females; the median age at diagnosis was 48 years. Multivariate analysis showed that age (OR = 11.41; 95% CI:2.71-48.04; P = .001), hepatomegaly (OR = 15.68; 95% CI:3.24-75.96; P = .001), hyponatremia (OR = 5.94; 95% CI:1.76-20.1; P = .004), hypoalbuminemia (OR = 7.47; 95% CI:2.08-26.85; P = .002), and increasing ferritin levels (OR = 19.46; 95% CI:4.69-80.71; P

Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm (left side) which has not been reported yet with this syndrome. To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated. Keywords: Bohring-Opitz syndrome, Opitz C syndrome, Eventration of diaphragm, India

Sanjad-Sakati Syndrome (SSS) is a rare syndrome, discovered in Saudi Arabia in 1988. This syndrome is characterized by congenital hypoparathyroidism, severe growth retardation, dysmorphic features, mild to severe mental retardation as well as recurrent chest infections. We presented an eight-year-girl with SSS, with severe growth retardation, mental retardation, resolution of recent chest infection together with a history of bronchial asthma, dysmorphic features, limited mouth opening, micrognathia as well as high susceptibility to difficult intubation. The objective of this case report is to present the successful anaesthetic management of a rare genetic endocrinal syndrome.

Acute zonal occult outer retinopathy (AZOOR) is a rare syndrome characterized by sudden onset of photopsia, scotomas, and abnormal electrophysiological tests, predominantly affecting young women. Although its pathogenesis remains unknown, auto-reactivity to retinal components is thought to mediate tissue damage. A 42-year-old woman presented with symptoms and examination consistent with the diagnosis of AZOOR. She was treated with azathioprine for 5 years. In spite of the immunosuppressive treatment, clear progression in the visual field, autofluorescence, electrophysiological tests and optical coherence tomography was observed. Treatment with intravenous immunoglobulins (IVIg) and subcutaneous Abatacept was subsequently started with little efficacy. Hereby, we present a case of progressive AZOOR despite aggressive immunosuppression with 10-year follow up. Currently, there is no consensus regarding management of AZOOR, and the convenience of administering aggressive immunosuppression remains uncertain.

Acrodysostosis is a rare syndrome of peripheral dysostosis, neurodevelopment delay, and skeletal abnormalities. The most common bone changes are peripheral dysostosis with severe brachydactyly of the lesser toes. The first ray of the feet is often not affected or may present hyperplasia resulting in an unbalanced transverse arch of the forefoot, with potential negative effects on function. Additionally, the insufficiency of the lesser toes may be associated with complex congenital hallux valgus deformities. Surgical approaches include growth plate epiphysiodesis, bulk reduction procedures, bone shortening, osteotomies, or amputation. Here, we report a case of a 14-year-old girl with acrodysostosis and severe discrepancy of the first ray and hallux valgus deformity simultaneously treated by a modified scarf osteotomy. Levels of Evidence Level V: Case report

Introduction: Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia. Case Description: A 4-day old baby boy was referred to our hospital for the evaluation of buphthalmos in the left eye. His clinical evaluation was remarkable for oculocerebrocutaneous syndrome with congenital glaucoma in the left eye and microphthalmos in the right eye. Conclusion: Our report represents the first case of oculocerebrocutaneous syndrome associated with unilateral congenital glaucoma so far in the literature.

Objetivos: Descrever a experiência vivenciada por acadêmicos de enfermagem durante o atendimento ao adolescente com Sí­ndrome de Sturge-Weber e a importância do cuidado integral. Método: Trata-se de uma pesquisa descritiva, exploratória, com abordagem qualitativa, do tipo relato de experiência, realizada em um Ambulatório Escola na Região Serrana do Estado do Rio de Janeiro, no mês de junho de 2019. Resultado: BHV, 13 anos, sexo masculino, cursando 4º ano do Ensino Fundamental, portador da Sí­ndrome de Sturge Weber, menciona que há muito tempo não realizava consulta em um serviço de saúde e exames de rotina. Apresentava, "mancha na face", caracterí­stica da Sí­ndrome. Possui glaucoma e utiliza Fenobarbital devido í crise convulsiva. Apresenta receio devido "a mancha na face". Os dados sinalizam a necessidade de um cuidado integral. Discussão: Por ser uma doença rara, fica notório a necessidade do cuidado integral, devido as manifestações neurológicas, cutâneas, oculares e orais. Nossa conduta proporcionou retornar aos cuidados oftalmológicos, acompanhamento odontologico, avaliação clí­nica e neurologica. Considerações finais: Foi possí­vel perceber que para atingir a qualidade no cuidado integral na assistência ao adolescente com uma Sí­ndrome rara, como a de Sturge-Weber é de extrema importância o envolvimento de uma equipe multidisciplinar.

A 50-year-old woman presented with coma and hemorrhagic shock. A rapid influenza antigen test revealed influenza A infection; other laboratory examinations ruled out any other suspected infections. She was diagnosed with hemorrhagic shock and encephalopathy syndrome (HSES) induced by influenza A. She was administered methylprednisolone pulse therapy and peramivir. Subsequently, she was discharged without any sequelae. Only a few cases of influenza-induced HSES have been reported, and the clinical outcomes were very poor. We herein report a successfully treated adult case of influenza-induced HSES and review this rare syndrome.

Neurogenic Thoracic Outlet Syndrome (NTOS) is a rare, but controversial syndrome in relation to its diagnosis, treatment modality, and approaches in case of surgical treatment. In the English literature, there are sparse studies dealing with these aspects. We conducted a PubMed 2000-2017 literature review and found a total of 3953 cases reported with NTOS. The clinical characteristics, etiology, electrophysiological and radiological work-up and treatment options were reviewed and reported. It seems that, as far as surgical indication criteria are concerned, there is a consensus for NTOS in its motor deficit stage and its techniques are generally well established. This review showed that differential diagnosis, radiological, and electrophysiological criteria for correct diagnosis of NTOS are not controversial. However, surgical indications and types of approaches and techniques reflect the surgeon’s affiliation with specialties dealing with NTOS (vascular, plastic, hand, orthopedic or neurosurgeons), and the surgeon’s experience with this specific and rare syndrome.

Currarino triad is a rare syndrome, with less than 250 cases reported, and it includes a combination of sacrococcigeal bony abnormalities, anorectal malformations and the presence of a presacral mass. Here we present a case of a 48-year-old male patient with history of severe chronic constipation, who was incidentally diagnosed with a presacral during imagiological investigation, which was histologically proven to be a neurendocrine tumor.

Silent Sinus Syndrome is a rare syndrome that usually involves the maxillary sinus. In this case report, we present a rare case diagnosed as Silent Sinus Syndrome with frontal, ethmoid and maxillary sinus involvement which was presented with periorbital complaints after the rhinoplasty operation performed in our clinic.

Roberts Syndrome is an extremely rare syndrome reporting about 150 cases in the literature, with a very low survival rate. The authors present a case of a female patient with Roberts Syndrome who also had a coronal craniosynostosis. The aim of this case report is to present a case of a patient with Roberts Syndrome with a brachycephaly that required management of fronto-orbital advancement. In conclusion Roberts Syndrome is a rare disease, which can have different skeletal variations. This syndrome can manifest itself with craniosynostosis, with the requirement of a comprehensive management to correct it and avoid compression of the brain with endocranial hypertension.

Bickerstaff brainstem encephalitis, widely considered to be associated with Miller Fisher and Guillain-Barré syndromes, is a rare disease state defined by the triad of ophthalmoplegia, ataxia, and decreased consciousness. The presence of central nervous system involvement, commonly in the form of impaired arousal, solidifies it as a unique entity. We present a case of this rare syndrome after autologous stem cell transplant.

Cervico-thoracic vertebral subluxation (CTVS) in sheep is a collective term that is used to describe various conditions that concomitantly affect the cervical and thoracic vertebrae, leading to their collapse. The aetiology and pathophysiology of CTVS remain unknown. The objective of this study was to conduct an epidemiological farm investigation and describe the clinicopathological findings of CTVS cases occurring in a flock of sheep; as well as to determine awareness of CTVS among sheep producers and ruminant veterinarians in Australia. Diagnostic imaging revealed severe deformities in the vertebrae between C6-C7 and T1-T3. Sheep affected with CTVS were at a four times higher risk of having low body condition scores (2 based on a 5-point scale) compared with non-affected sheep, OR = 3.98, 95% CI (1.20-12.65), p = .02. Survey results revealed that only 34% (15/44) of respondents were aware of CTVS. There is a need to further explore the aetiology and pathophysiology of CTVS, and the impact it has on sheep breeding and production.

Epileptic encephalopathies of infancy are difficult-to-treat destructive cases of epilepsy in infants and young children, which include the two clinical observations of Coppola Dulac syndrome (malignant migrating partial attacks of infancy) given in this article. Epileptic encephalopathies are a genetically heterogeneous group of disorders that are characterized by the presence of a convulsive syndrome and are accompanied by cognitive and behavioral disorders. As a result of intensive development of methods of molecular genetic research, ideas about the causes of epilepsy in children began to change, this fact led to the fact that the international League against epilepsy replaced the term idiopathic epilepsy with genetic epilepsy. To date, about 60 phenotypic variants of early epileptic encephalopathies have been registered in children, including those associated with mutations of genes that regulate the functions of voltage-dependent calcium and sodium channels. In our work, we consider clinical observations of genetic epileptic encephalopathies caused by mutations in the CACNA1A and SCN8A genes, respectively, which are channelopathy. Malignant migrating partial attacks of infancy (infant epilepsy with migrating focal attacks, Coppola Dulac syndrome) are manifested at an early age, from the first days to 6 months of life, and are characterized by typical multifocal attacks with a tendency to change hemispheres and involve opposite limbs. G. Coppola based on the analysis of their own observations, described in 1995 a new age dependent epileptic syndrome, introducing a definition for it migrating partial attacks of infancy. Currently, it is recommended to use the term infant epilepsy with migrating focal seizures. We present our own clinical and neurophysiological observations of this rare syndrome.

Introduction: Smith-Magenis Syndrome (SMS) is a genetic disease characterized by a neuro-behavioral deficiency caused by mutations or deletions at the 17p11.2 locus comprising the retinoic acid-induced 1 (RAI1) gene. The diagnosis is made through clinical analysis looking for characteristics and to prove this suspicion, a technique called Fluorescence In Situ Hybridization (FISH) is required. Objective: The aim of this case report is to be the first to describe the planning and execution of dental treatment for a 5yearold female patient with SMS under general anesthesia. Case report: The patient was admitted to the clinic of the Universidade Federal Fluminense, with possible dental pain, in the anamnesis the need for invasive treatment was observed in many dental elements and due to the patient’s behavioral pattern, treatment under general anesthesia was chosen. Results: Procedures were performed (restorations and extractions) in the hospital in the same step. The child follow-up after the intervention every six month. Conclusion: SMS is a rare syndrome that requires extensive knowledge of the dentist and a detailed anamnesis to choose the best option to solve the case. Introdução: A síndrome de Smith-Magenis (SMS) é uma doença genética caracterizada por uma deficiência neuro-comportamental causada por mutações ou deleções no locus 17p11.2 compreendendo o gene 1 induzido por ácido retinóico (RAI1). O diagnóstico é feito por meio de análises clínicas em busca de características e para comprovar essa suspeita, é necessária a técnica denominada Hibridização In Situ por Fluorescência (FISH). Objetivo: O objetivo deste relato de caso é o primeiro a descrever o planejamento e execução do tratamento odontológico para uma paciente do sexo feminino de 5 anos de idade com SMSsob anestesia geral. Relato do caso: O paciente deu entrada no ambulatório da Universidade Federal Fluminense, com possível dor dentária, na anamnese observou-se a necessidade de tratamento invasivo em diversos elementos dentais e devido ao padrão de comportamento do paciente optou-se pelo tratamentosob anestesia geral. Resultados: Os procedimentos foram realizados (restaurações e extrações) no hospital na mesma etapa. O acompanhamento da criança após a intervenção foi a cada seis meses. Conclusão: A SMS é uma síndrome rara que requer amplo conhecimento do dentista e uma anamnese detalhada para aescolha da melhor opção para a solução do caso.

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome characterized by posterior rib ossification gaps and orofacial anomalies. Posterior rib ossification gaps are the hallmark of the disease and mimic multiple old rib fractures. The condition is caused by heterogeneous mutation of Small Nuclear Ribonucleoprotein Polypeptides B and B1 (SNRPB) gene on the chromosome 20p13. There is scanty literature regarding the extent of bony changes and the associated pulmonary-airway abnormalities on computed tomography (CT) imaging. In this case report, we presented a detailed CT imaging features of a case of CCMS in a male infant. This report highlighted on the nature of osseous defects, structural changes in the chest wall, airways, lungs, and a wide range of spinal anomalies. Some of our observations regarding the changes in the airway and chest wall are likely to have bearing on evaluating the prognosis and the need for respiratory support.

Schizophrenia is associated to somatic disorders especially cardio‐vascular and auto‐immune. Through this case report, we describe an association with hypertrophic osteoarthropathy (HPO). For this patient, it was a paraneoplastic syndrome secondary to lung cancer. This syndrome is rare but important to recognize since it could hide a life‐threatening condition., Schizophrenia is associated to somatic diseases. We describe an association with hypertrophic osteoarthropathy (HPO). It is a rare clinical entity but it could be a paraneoplastic syndrome hiding a life‐threatening condition.

Background Melnick–Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick–Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. Case presentation We report on two Caucasian adolescent females, sisters, diagnosed with Melnick–Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. Conclusions We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick–Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.

The recognition of the rare but serious and potentially lethal complication of vaccine induced thrombotic thrombocytopenia (VITT) raised concerns regarding the safety of COVID-19 vaccines and led to the reconsideration of vaccination strategies in many countries. Following the description of VITT among recipients of adenoviral vector ChAdOx1 vaccine, a review of similar cases after Ad26.COV2·S vaccination gave rise to the question whether this entity may constitute a potential class effect of all adenoviral vector vaccines. Most cases are females, typically younger than 60 years who present shortly (range: 5-30 days) following vaccination with thrombocytopenia and thrombotic manifestations, occasionally in multiple sites. Following initial incertitude, concrete recommendations to guide the diagnosis (clinical suspicion, initial laboratory screening, PF4-polyanion-antibody ELISA) and management of VITT (non-heparin anticoagulants, corticosteroids, intravenous immunoglobulin) have been issued. The mechanisms behind this rare syndrome are currently a subject of active research and include the following: 1) production of PF4-polyanion autoantibodies; 2) adenoviral vector entry in megacaryocytes and subsequent expression of spike protein on platelet surface; 3) direct platelet and endothelial cell binding and activation by the adenoviral vector; 4) activation of endothelial and inflammatory cells by the PF4-polyanion autoantibodies; 5) the presence of an inflammatory co-signal; and 6) the abundance of circulating soluble spike protein variants following vaccination. Apart from the analysis of potential underlying mechanisms, this review aims to synopsize the clinical and epidemiologic features of VITT, to present the current evidence-based recommendations on diagnostic and therapeutic work-up of VITT and to discuss new dilemmas and perspectives that emerged after the description of this entity.

Malignant atrophic papulosis (Degos disease) is a rare syndrome of multiple-system vascular diseases with unknown etiology. It can affect the skin, gastrointestinal tract and central nervous system. Here, we report a 58-year-old woman with extensive porcelain-white atrophic papules. Based on the clinical manifestations, skin biopsy and colonoscopy, a diagnosis of malignant atrophic papulosis was confirmed.

Goyal-Naqvi syndrome (GNS) is a newly documented clinical entity that comprises trisomy 10p and terminal 14q deletion, though trisomy 10p and terminal 14q deletion have been discovered as distinct conditions in 1974 and 1997, respectively. Nevertheless, to date, the total number of reported cases of each of these conditions is estimated to be in double digits. Both manifest as a constellation of features like craniofacial dysmorphism, hypotonia, intellectual impairment and global developmental delay. Characteristic facies include protruded forehead, hypertelorism, epicanthic folds, down slanting palpebral fissures, flat nasal bridge, long philtrum, thin upper lip, carp-shaped mouth, retro-micrognathia and low set ears. Besides, trisomy 10p is strikingly associated with clinodactyly and camptodactyly which aids in clinical diagnosis, apart from other musculoskeletal deformities like hip dysplasia and pes planus. Intersex conditions have been found to commonly co-exist. As other systems also display involvement frequently, trisomy 10p is a discernible multiple congenital anomalies/mental retardation (MCA/MR) syndrome. On the other hand, with terminal 14q deletion, increased risk of certain types of cancer was predicted as specific tumor suppressor genes are lost in the deletion and thus, screening was recommended. Genetic workup using techniques like fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and chromosomal microarray-based comparative genomic hybridization (CGH) was found to be helpful in diagnosis of trisomy 10p and 14q deletion. Prenatal diagnosis of these conditions has been well documented too. Intrauterine growth retardation has been observed to be related to trisomy 10p. There is a paucity of literature on the management of children diagnosed with trisomy 10p or with terminal 14q deletion. Although management of a child diagnosed with concomitant occurrence of trisomy 10p and terminal 14q deletion by a multidisciplinary approach emphasizing physiotherapeutic intervention has shown remarkable improvement in motor skills, the care of children diagnosed with these genetic aberrations needs further investigation. Documentation of more such cases will help to expand phenotypic spectrum for early identification and to delineate natural history for a life span approach. Early identification and intervention facilitate tapping of the maximum neuroplastic potential for better neurodevelopmental outcomes. We present a review of current literature on this novel syndrome to identify gaps in knowledge to build future research.

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.

Yellow nail syndrome is an extremely rare syndrome that presents with a clinical triad of thickened yellow nails, lymphedema, and recurring pulmonary manifestations (pleural effusion, chronic cough, or bronchiectasis), usually in the population above the age of 50 years. We describe a case of yellow nail syndrome in a 48-year-old lady who presented with the typical classical triad of this syndrome.

We report the case of a 63-year-old white man who, 3 days after stent removal of endoscopic drainage of pancreatic cysts, developed a penile necrosis due to purpura fulminans (PF) that has been misdiagnosed as Fournier's gangrene. Penile necrosis was rapidly followed by a lethal multiorgan failure due to disseminated intravascular coagulopathy (DIC), triggered by the subsequent development of a severe acute pancreatitis. PF describes a rare syndrome involving intravascular thrombosis and hemorrhagic infarction of the skin. Although reports of penile necrosis secondary to various causes are documented in the literature, penile necrosis secondary to PF in the setting of acute pancreatitis is a rare event. Histopathologic studies of the skin showing an occlusive nonvasculitic vasculopathy are the first step to achieve an accurate diagnosis.

Graham Little-Piccardi-Lassueur syndrome is a type of lichen planopilaris characterized by the triad of patchy cicatricial alopecia of the scalp, non-cicatricial alopecia of the axilla and pubis, and follicular spinous papules on the body, scalp or both. This rare syndrome primarily affects middle-aged postmenopausal women with only three male cases being reported in literature. Herein we report a 53-year-old man who is fourth male patient diagnosed with Graham Little-Piccardi-Lassueur syndrome up to now.