Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

[alexander disease]

We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age . The patient had a cluster of partial seizures at 4 months of age . He presented with mild general hypotonia and developmental delay . Macrocephaly was not observed . Brain magnetic resonance imaging (MRI ) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities . DNA analysis disclosed a novel heterozygous missense mutation (c .1154 C >T , p .S 385 F ) in the glial fibrillary acidic protein gene . At 8 months of age , tonic spasms occurred , and electroencephalography (EEG ) revealed hypsarrhythmia . Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings . Although most patients with infantile Alexander disease have epilepsy , infantile spasms are rare . This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease .

Diseases
Validation

Diseases presenting "macrocephaly" symptom

alexander disease

canavan disease

cohen syndrome

cowden syndrome

kabuki syndrome

monosomy 21

proteus syndrome

wolf-hirschhorn syndrome

This symptom has already been validated