Brain white matter impairment in congenital adrenal hyperplasia

Background Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH. Objective To detect the presence, and possible changes over time, of brain white matter abnormalities in patients with CAH. Design Neurological examination and brain magnetic resonance imaging (MRI) that were repeated in 12 patients after a mean interval of 11 years. Setting Pavia, northern Italy. Patients Twenty-two patients with CAH. Main Outcome Measures Evaluation of clinical neurological findings and brain MRI T2-weighted images. Results Ten (45%) of 22 patients with CAH had white matter abnormalities (diffuse in 4 cases, focal in 3 cases, and both diffuse and focal in 3 cases) on MRI. The MRI findings never changed over repeated assessments. Conclusions Subclinical brain white matter involvement is frequent in CAH. This might be due to hormonal imbalance during brain development or corticosteroid treatments. Our study findings indicate that a relationship with demyelinating diseases can also be suggested. Diagnosis of CAH should be suspected in young subjects with brain MRI white matter abnormalities that are not otherwise explicable.