Phenotypic findings:
(1) macrocephaly
(2) striatal and basal ganglia injury with dystonia or chorea
(3) encephalopathy
(4) subdural and subretinal hemorrhages
Differential diagnosis of macrocephaly:
(1) benign familial macrocephaly
(2) communicating hydrocephalus
(3) other metabolic diseases associated with macrocephaly such as Canavan disease aspartoacylase deficiency)
Differential diagnosis of striatal and basal ganglia injury:
(1) metabolic encephalopathy (Leigh syndrome)
(2) infection with Mycoplasma pneumoniae
(3) cerebral palsy
Differential diagnosis of encephalopathy:
(1) infectious encephalopathy
(2) toxic encephalopathy
(3) MELAS syndrome
(4) other organic acidurias
(5) urea cycle defect
Differential diagnosis of subdural and subretinal hemorrhages:
(1) child abuse
