neurocutaneous syndromes/febră

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Evaluation of the child who convulses with fever.

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Febrile seizures result from age-dependent hyperexcitability of the brain that is induced by fever. Although there are important genetic influences that render a febrile child more likely to develop seizures, it is the fever per se that causes the seizure. Of primary importance in the diagnostic

Gómez-López-Hernández syndrome in a Japanese patient: a case report.

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Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical

Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report.

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Tuberous sclerosis complex (TSC) is a relatively rare, autosomal dominant, and progressive neurocutaneous disorder involving multiple organs. Heterozygous mutations in the TSC1 gene located on chromosome 9 (9q34.13) or the TSC2 gene located on chromosome 16 (16p13.3) have been shown to

[Neurologic diseases and chromosome 17].

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On the short arm of the 17th chromosome is a peripheral myelin protein (PMP22) the duplication or point mutation of which causes the development of some congenital autosomal dominant hereditary demyelinization neuropathies: the most frequent variants of Charcot-Marie-Tooth disease (CMT1A), some

Zoster vaccine live.

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Herpes zoster is a neurocutaneous disease caused by the varicella-zoster virus and is associated with significant morbidity and long-term sequelae in older adults. Until recently, treatment options for these complications have been primarily targeted at disease state management and symptom relief.

[Imaging in paediatric epilepsy].

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Epilepsy is a chronic disease, often with an onset during childhood and characterized by spontaneous and recurrent seizures. It concerns 0.5-1% of children under 16 years of age. A classification proposed by the International League Against Epilepsy (ILEA) in 2001 takes into account recent genetic

Progressively intractable seizures, focal alopecia, and hemimegalencephaly.

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We report a 3-year-old boy with the neurocutaneous combination of unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures. He was born with an asymmetric hair pattern consisting of absent patches of hair, a small left eyebrow, and less eyelashes on the left eye; he had normal

Predictors of abnormal findings of computed tomography of the head in pediatric patients presenting with seizures.

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OBJECTIVE To develop a preliminary clinical decision guideline, using characteristics of ED pediatric patients presenting with seizures, that successfully predicts all abnormal results of computed tomography (CT) of the head. METHODS We assembled a retrospective case series in the ED of a tertiary

A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.

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Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old

Variations in herpes zoster manifestation.

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Herpes zoster (HZ) is a neurocutaneous disorder due to endogenous reactivation of the varicella-zoster virus (VZV). The typical clinical manifestation is an acute segmental eruption of herpetiform umbilicated vesicles associated with malaise, pain, dysaesthesia, allodynia and probably fever. This

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