neurocutaneous syndromes/huvudvärk

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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

Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?

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We report on a 16-year-old intelligent and sportive boy with the cutaneous findings of phacomatosis pigmentovascularis unclassifiable type.The skin anomaly was lateralised to his left body side since birth, fading over the years. Because of headache and dizziness, brain magnetic resonance imaging

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

Neurofibromatosis type II: a rare neurocutaneous syndrome.

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Neurocutaneous syndromes are heterogeneous group of disorders with abnormalities of central as well as peripheral nervous system. Neurofibromatosis type II (NF-II) is an autosomal dominant neurocutaneous syndrome rarely diagnosed in pediatric population. Diagnosis is based on clinical history and

[Endogenous potentials evoked by acoustic stimulus in children with idiopathic headache--preliminary report].

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OBJECTIVE Endogenous evoked potentials (P300) are elicited by several stimuli, and are electrophysiological consequence of cognitive processing. Abnormalities have often been reported in dementive syndromes, demyelinating diseases, metabolic disorders, CNS tumors, phacomatoses, neuroinfections,

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

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Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric

[Multiple intracranial and intraspinal meningiomas in the neurocristopathy (phacomatosis) type of neurofibromatosis].

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Presentation of a case of a "central type" neurofibromatosis in a 56-year old woman, clinically diagnosed erroneously as multiple sclerosis with a 20 years long course. Disturbances of hearing, walking, sight, sensitivity, incontinentia, intracranial hypertension and headache represented the main

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

[Lhermitte-Duclos disease associated with tuberous sclerosis. A case report and review of literature].

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BACKGROUND Lhermitte-Duclos disease is a rare disorder of the cerebellum of unknown origin in which dysplasic thickening of the cerebellar convolutions is seen. It usually occurs in young adults. Currently it is included in the phacomatosis group of disorders. METHODS A 19 year old woman attended

Sturge-Weber syndrome type 3 manifesting as 'Status migrainosus'.

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Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterised by facial naevus and leptomeningeal angiomatosis resulting in neurological and ophthalmological complications. In its rare variant, SWS type 3, the clinical hallmark of facial naevus is absent which poses a diagnostic

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

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

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Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors with a birth incidence rate of 1 in 2500-3000. 50% of cases are sporadic. The diagnosis is exclusively based on clinical assessment with

[Aneurysm of anterior communicating artery associated with type 1 neurofibromatosis].

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BACKGROUND Neurofibromatosis type 1 (NF-1) is an autosomal dominant, hereditary, neurocutaneous syndrome that may primarily or secondarily, affect different organs or systems of the body including the cardiovascular system. The most common vascular abnormality in patients with NF-1 is renal artery

Herpes zoster vaccination.

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Varicella (chickenpox) is a highly contagious airborne disease caused by primary infection with the varicella zoster virus (VZV). Following the resolution of chickenpox, the virus can remain dormant in the dorsal sensory and cranial ganglion for decades. Shingles (herpes zoster [HZ]) is a

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