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Original Contribution
March 2006

Brain White Matter Impairment in Congenital Adrenal Hyperplasia

Author Affiliations

Author Affiliations: From the Multiple Sclerosis Center (Drs Bergamaschi and Candeloro), Service of Neuroradiology (Drs Uggetti, Egitto, Pichiecchio, and Bastianello), and Department of Neurology (Dr Cosi) of the Neurological Institute “C. Mondino,” and from the Department of Applied Health Sciences (Dr Livieri), University of Pavia, Pavia, Italy.

Arch Neurol. 2006;63(3):413-416. doi:10.1001/archneur.63.3.413
Abstract

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.

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