Patient selection: neonate or young infant (few weeks of age). An older infant would qualify for the infantile form.
Outcome: death or severe disability by 2 years of age
Genetic finding: mutation in GFAP
Clinical features:
(1) rapid progression
(2) seizures which are generalized, frequent and often intractable (obligatory finding)
(3) hydrocephalus with raised intracranial pressure, often associated with aqueductal stenosis
(4) severe motor disability without prominent spasticity or ataxia
(5) severe intellectural disability
(6) poor feeding with failure to thrive
Imaging findings:
(1) severe white matter abnormalities especially in frontal lobes with periventricular enhancement
(2) abnormalities of basal ganglia and cerebellum
Laboratory findings:
(1) elevated CSF protein concentration
