Shapiro Shulman syndrome: a forgotten condition.

We report on a girl with cutaneous angioma and hydrocephalus who presented the characteristics of the condition described by Shapiro and Shulman. At birth, she manifested extensive pink discoloration on her face, scalp, and back. During infancy, she developed hydrocephalus, which later stabilized.

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Pelizaeus-Merzbacher Disease is an X-linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. The 12 MCT8 mutated patients express initially a Pelizaeus-Merzbacher-Like disease phenotype with a latter unusual improvement of magnetic resonance imaging white matter signal despite absence of clinical progression.

Suspected herpes encephalitis and opercular syndrome in childhood.

Herpes simplex encephalitis is the most common form of sporadic viral encephalitis. It may occur at any age, giving rise to a syndrome with a high morbidity and mortality. Its presentation may be atypical, and the initial complementary investigations nonspecific, making early diagnosis difficult and thus worsening its prognosis.

Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures.