Marion R W, Alvarez L A, Marans Z S, Lantos G, Chitayat D
J Child Neurol. 1987 Jul;2(3):198-200. doi: 10.1177/088307388700200305.
Computed tomographic (CT) scans of the brain in a child with Smith-Lemli-Opitz syndrome revealed enlargement of the ventricular system, hypoplasia of the cerebellum, and abnormal thickening of the gray matter, consistent with pachygyria. These findings have been previously noted in autopsies performed on patients with this disorder. We conclude that CT scanning is a valuable tool in the evaluation of children suspected of having the Smith-Lemli-Opitz syndrome.
