Alexander disease is usually classified according to the age of onset, e.g. an infantile
form with onset during the first two years of life, a juvenile form with onset in
childhood, mainly school age. It has been recognized, however, that the clinical course
can be very variable within these groups. Thus, this clinical classification is not
a useful predictor of severity and progression of the disease.
This is demonstrated here on the basis of the history of seven own patients and a
literature review.
Only an onset in very early infancy, during the neonatal period, seemed to be associated
with a rather uniform pattern of disease course, often leading to early death. This
neonatal form showed very stereotyped symptoms, in part different from later onset:
Early, often intractable, generalized seizures; hydrocephalus with raised intracranial
pressure due to aqueductal stenosis because of pathological astroglia proliferation;
lack of developmental progression but without prominent spasticity or ataxia; elevated
CSF protein content. This was associated with the well-established neuroradiological
findings, e.g. severe white matter affection with fronto-temporal predominance, involvement
of basal ganglia and periventricular enhancement as an obligatory symptom. The identification
of this early onset form is especially important as seizures and signs of raised intracranial
pressure may mislead the diagnosis.
Key words
Alexander disease - Neonatal onset - Magnetic resonance imaging - Hydrocephalus
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M. D. Prof. Dr. Ingeborg Krägeloh-Mann
Dept. of Child Neurology University Children's Hospital
Hoppe-Seyler-Str. 1
72076 Tübingen
Germany
