Abstract
The diagnostic significance of clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD) was evaluated at the National Neurological Institute, Milan, Italy.
Highlights
The clinical course was typical in 9 patients, with rapid motor and mental deterioration: it was atypical in 4 showing a slower rate of progression
Characteristic MRI abnormalities were cerebellar atrophy, first involving the inferior vermis and later the cortex, with hyperintense signal on T2-weighted images, and hypointensity in the pallida and substantia nigra. a-N-acetyl-galactosaminidase leukocyte activity was normal in 10 patients tested
The addition of plasma exchange (PE) or intravenous immunoglobulin (IVIg) did not improve outcome or shorten duration of illness compared with supportive care alone (SC) alone
Summary
Berg AT and Engel J Jr, in an editorial, discuss "Restricted driving for people with epilepsy." (Neurology April 1999;52:1306-1307). The diagnostic significance of clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD) was evaluated at the National Neurological Institute, Milan, Italy. Symptoms and signs of psychomotor regression presented between 6 months and 2 years of age.
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