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Epidermal nevus syndrome: an unusual cerebellar involvement

The epidermal nevus syndrome is characterized by several developmental anomalies associated with an epidermal nevus. In addition to the skin, other organs commonly affected include the brain, eyes and musculoskeletal system. We report here on a 24-year-old woman with this syndrome who presented with hemifacial hypertrophy, hearing abnormalities, arrhythmia and an unusual infratentorial brain involvement.

Papel da angio-tomografia computorizada: na estenose carotídea

Contributo da neurorradiologia: para o diagnóstico das doenças hereditárias do ...

Score de LOES na adrenoleucodistrofia: indicações para transplante de medula ós...

Neurorradiologia da síndroma de Kallmann

The present study refers to the magnetic resonance characteristics observed in a group of three patients with clinical and laboratory evidence of Kallmann's Syndrome. This disease, also named olfactogenital dysplasia, affects the normal gonadal and olfactory development and is clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia/hyposmia. The study protocol, which included t...

Malformações do desenvolvimento cortical em doentes com epilepsia: estudo neuro...

This article reviews Malformations of Cortical Development (MCD) diagnosed by Magnetic Resonance Imaging (MRI) in a series of patients with epilepsy. This study spans a five year period. The frequency of these malformations was 7.1%. Most of these were focal or multifocal and the most common ones were polymicrogyria (35.3% of the patients), heterotopia (29.4%), and focal cortical dysplasia (29.4%). The frontal ...