MRI in the Delineation of Genetic Metabolic Disorders
Genetic metabolic disorders may interfere with early morphogenesis of the brain. Generalised peroxisomal disorders (GPD) called Zellweger’s syndrome (ZS), infantile Refsum’s disease (IRD) and neonatal adrenoleucodystrophy (NALD), although biochemically very similar, differ in clinical expression (De Leon et al., 1977; Evrard et al., 1978; Torvik et al., 1988; Wanders et al., 1990). ZS has the poorest prognosis, and IRD the best. ZS has the highest degree of external dysmorphia, underlining its early prenatal onset. Abnormal gyration has been consistently described in ZS, but not in IRD or NALD. We tried to correlate external features of the brain as found either post mortem or on MRI with clinical diagnosis.
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