Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family

21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. Here we report a woman with a genetically assessed classic congenital adrenal hyperplasia and brain white matter abnormalities. Both the carrier parents also showed signs of leucoencephalopathy. Common causes of leukoencephalopathy were excluded by appropriate analyses. Our observation suggests that white matter anomalies may also be present in carriers of a mutation in the CYP21 gene. We therefore suggest performing CYP21 gene analysis in subjects with brain MRI evidence of white matter abnormalities that cannot otherwise be explained.