neurocutaneous syndromes/vomă

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A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome.

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Wyburn-Mason's syndrome is a rare neurocutaneous disorder consisting mainly of unilateral arteriovenous malformations of the midbrain and retina with multiple cutaneous nevi. The authors report on the clinical presentation, neurologic phenotype, and long-term neurologic follow-up of two unrelated

Intracranial hypertension in Sturge-Weber/Klippel-Trenaunay-Weber overlap syndrome due to impairment of cerebral venous outflow.

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Klippel-Trenaunay-Weber syndrome (KTWS) is a rare mesodermal phakomatosis characterized by (1) cutaneous haemangiomata (usually unilateral and involving an extremity) (2) venous varicosities and (3) osseous and soft tissue hypertrophy, also of the affected limb. Sturge-Weber Syndrome (SWS), also a

Neurofibromatosis type 1 associated with moyamoya syndrome in children.

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BACKGROUND Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

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Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband

Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant.

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Dandy-Walker Malformation (DWM) is a rare congenital malformation of the brain. It is characterized by cystic enlargement of the fourth ventricle which is communicating with an enlarged posterior fossa, cerebellar dysgenesis, high tentorial insertion and hydrocephalus. Neurocutaneous Melanosis (NCM)

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

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Introduction: There are no previous published reports on primary pediatric tumors of the central nervous system (CNS) in Qatar. We undertook this retrospective cohort study to review the diagnosis of CNS tumors in children in Qatar to

Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children.

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OBJECTIVE To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. METHODS Children with stroke were evaluated at the Division of Pediatric Neurology (DPN), or were seen as inpatients

Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome.

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PHACE (posterior fossa brain malformation, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) syndrome is a neurocutaneous disorder often involving the cerebral vasculature. PHACE patients appear to have early-onset and severe headaches more

[Triple primary intracranial tumors of different cell types: a case report].

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We report a case of triple intracranial tumors of different cell types without phacomatosis. The patient was a 77-year-old female who was hospitalized with left hemiparesis and vomiting. Computed tomography (CT) scans revealed a large tumor mass in the right frontal lobe and relatively small tumor

[Neurocutaneous melanosis--a case report].

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Neurocutaneous melanosis is a rare congenital phacomatosis characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant pigmented cell tumors of the leptomeninges. A 14-month-old boy was admitted with a recent history of vomiting and drowsiness. He was found

Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review.

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Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth

Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature.

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BACKGROUND Neurocutaneous melanosis is a rare phakomatosis characterized by large or multiple pigmented nevi and melanosis of the leptomeninges. It is often complicated by hydrocephalus due to melanotic deposits interfering with cerebrospinal fluid reabsorption in the basal cisterns or causing

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