A six-year-old girl with a leukodystrophy.

摘要

A 6-year-old girl presented with the radiological diagnosis of a leukodystrophy. The clinical history and examination suggested a nonprogressive condition manifested by cognitive delay and ataxia, not one of the known metabolic leukoencephalopathies. A search for the etiology of the white matter changes on magnetic resonance imaging (MRI) was productive and the case demonstrates the utility of chromosomal microarray technology in the evaluation of idiopathic white matter changes as well as mental retardation.