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.


METHODS
Neurological examination and brain magnetic resonance imaging (MRI) that were repeated in 12 patients after a mean interval of 11 years.


METHODS
Pavia, northern Italy. Patients Twenty-two patients with CAH.


METHODS
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.
Bergamaschi
Roberto
R
Multiple Sclerosis Center, Service of Neuroradiology, and Department of Neurology of the Neurological Institute "C. Mondino," Pavia, Italy. roberto.bergamaschi@mondino.it
Livieri
Chiara
C
Uggetti
Carla
C
Candeloro
Elisa
E
Egitto
Maria Grazia
MG
Pichiecchio
Anna
A
Cosi
Vittorio
V
Bastianello
Stefano
S
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009460:Neurologic Examination / Q000379:methods