Radiological clue to diagnosis of Canavan disease.

[canavan disease]

Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay , initial hypotonia progressing to hypertonia , macrocephaly and blindness . The authors present an infant with these clinical features . MRI brain shows white matter changes with characteristic involvement of subcortical U fibres and MR spectroscopy shows the characteristic peak of N- acetyl aspartate . The importance of specific clinical features and imaging in the diagnosis of different leukodystrophies in resource and access limited settings is suggested .

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