neurocutaneous syndromes/seizures

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Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome.

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Multiple choristomas, convulsions and mental retardation as a new neurocutaneous syndrome.

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Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy.

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Phacomatosis pigmentokeratotica (PP) is a mosaic disorder that represents a distinct epidermal naevus syndrome. Its defining features are an epidermal naevus that is usually of the sebaceous type and a speckled lentiginous naevus arranged in a chequerboard pattern. In addition, there are

Congenital alopecia, seizures, and psychomotor retardation in three siblings.

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Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair

[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome].

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We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

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Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described.

Seizures in neurofibromatosis 1.

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Neurofibromatosis 1 is a common, genetically transmitted neurodevelopmental disorder with a high potential to cause subcortical focal brain lesions. Although seizures occasionally complicate neurofibromatosis 1, they have not been characterized adequately in the disease. Other phacomatoses with

A rare case of aplasia cutis congenita with refractory seizures.

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Aplasia cutis congenita is a heterogeneous disorder involving symmetric focal absence of skin at birth. A 1-year-old boy presented with the clinical manifestation of intractable complex partial seizures and development delay; physical examination revealed two fibrotic scars and alopecia. His parents

[Corpus callosum agenesis and epileptic seizures].

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BACKGROUND The corpus callosum is the major neopallial connection between the two cerebral hemispheres. The corpus callosum agenesis (CCA) is found in 14% of CNS malformations. The diagnosis is based on neuroimaging procedures (ultrasonography, CT, MRI). The CCA is usually associated with facial

[Myoclonic astatic seizures in a child with Sturge-Weber syndrome].

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BACKGROUND Sturge-Weber syndrome is a neurocutaneous disease associating facial and pial angioma. Focal epilepsy is a common sign. In a few cases, generalized seizures have been reported. METHODS We report on a four-year-old girl with Sturge-Weber syndrome. The first focal seizures occurred at three

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

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To describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV).A retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV

Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases.

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OBJECTIVE Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder. It was described by Haberland in 1970 and is also called Haberland syndrome. It is characterized by unilateral skin lesions such as lipomas, connective tissue nevi, and alopecia with ipsilateral

[Neurocutaneous syndromes and epilepsy. Report of 23 cases and review of the literature].

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The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system. We included in the study 23 children diagnosed with different types of neurocutaneous syndrome (10 patients with tuberous sclerosis, 5 with Sturge-Weber syndrome and 8 with

Neurocutaneous syndromes and epilepsy-issues in diagnosis and management.

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Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition,

[Phacomatoses: structural substare of epilepsy].

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OBJECTIVE Evaluation of frequency and characteristics of seizures in the most frequent phacomatoses and assessment of relationship between fits and structural changes in CNS. METHODS 135 children with tuberous sclerosis (TS), 73 with NF-1 and 30 with Sturge-Weber syndrome took part in the study.

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