Table 1.  Major previous reports of brain MRI abnormalities related to congenital adrenal hyperplasia.

Authors and year	Cases		Age range	Disease phenotype	Neurologic manifestations	Main MRI findings
	N	%	(yr)
Sinforiani et al., 1994	4	27	>16	SW: 2 SV: 2	No	- Leukoencephalopathy- Cerebral atrophy- Ventricular dilatation
Nass et al., 1997	18	46.1	4–33	SW: 12 SV: 6	None except for one with known stroke	- Leukoencephalopathy- Cerebral atrophy
Bergamashi et al., 2006	10	45	16–23	SW: 6 SV: 4	No	Leukoencephalopathy
Gaudiano et al., 2010	3*	100	27–54	Proband: classic form Parents: heterozygotes for CYP21 mutation	Yes**	- Leukoencephalopathy- Cerebellar atrophy- Cerebral atrophy- Ventricular dilatation

MRI: magnetic resonance imaging. SV: simple virilizing. SW: salt wasting. %: Percentage of patients with brain abnormalities in the study population. *A family with congenital adrenal hyperplasia and brain abnormalities. **Proband with postural tremor and cerebellar syndrome. The mother had blurry vision, diplopia and paresthesia, and the father had no neurologic manifestations.