Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.

[alexander disease]

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay , macrocephaly , and characteristic neuroimaging abnormalities predominantly involving frontal lobes . We report a 6 -year -old Indian boy with infantile -onset Alexander disease , who has an unusually mild clinical course and a de novo p .Leu 359 Val mutation in the glial fibrillary acidic protein gene .

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