Alexander’s Disease may present with different ages of onset. A neonatal form was suggested by Springer et al.
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
(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
(1) severe white matter abnormalities especially in frontal lobes with periventricular enhancement
(2) abnormalities of basal ganglia and cerebellum
(1) elevated CSF protein concentration
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