Alexander disease
Incidence
Sporadic condition. Some 30 pts reported.
Clinical Characteristics
Progressive macrocephaly that start in infancy due to megalencephaly. Seen mostly in males. Arrest of motor and mental development since early infancy, often associated with seizures and spasticity. Optic fundi, CSF and EEG are usually normal. A few patients have developed increased intracranial pressure with bulging fontanel. It is a progressive encephalopathy. The CT and MRI shows diffuse leukodystrophy affecting mainly the frontal lobes, simetrical, with periventricular linear hyperdensification. The pathological landmark is the presence of Rosenthal fibers (rod-shape bodies stained red with H&E) in the white matter, mainly subpial, periventricular and subependimally. CSF may have increased levels of alpha-B-crystallin. There is no treatment available. A few patients have been reported starting after age 2 years
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
MRI highly suggest the Dx. Brain biopsy show abundant Rosenthal fibers. CSF may have increased levels of alpha-B-crystallin.