Neonatal Adrenoleukodystrophy

NALD presents clinically with a regression of psycho-motor development, visual impairment and retinal degeneration, sensorineuronal hearing loss, and seizures. Death usually occurs within 2 to 3 years of onset.

The pathology is distinguished by a widespread degeneration of myelin with sudanophilic breakdown products accompanied by perivascular lymphocytic infiltrations (see the section on leukodystrophies). The adrenals are atrophic. Cortical malformations are less evident.

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