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 "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated