Which histologic findings are characteristic of Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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  • Histologic findings have not generally been useful in the diagnosis of Smith-Lemli-Opitz syndrome, and little literature is available that describes histologic findings in Smith-Lemli-Opitz syndrome. The gross anatomic findings and biochemical findings are of much greater importance.

  • In one case reported by Ness et al, the liver showed severe cholestasis of the hepatocytes, distorted hepatic architecture, septal fibrosis, and extramedullary hematopoiesis. [30] Iron and bilirubin deposition were observed in the hepatocytes. Thymic sections showed marked depletion of thymocytes. The brain was small, weighed 250 g, and showed marked yellow bile staining of the meninges. The gyral pattern was strikingly abnormal. Coronal sections showed mild hydrocephalus with porencephaly, absence of the corpus callosum, and a small hypoplastic cerebellum. Bile staining was present in the basal ganglia and dentate nucleus of the cerebellum, consistent with kernicterus. The cortex corresponding to the grossly abnormal gyral pattern showed abnormal neuronal migration with 4 instead of 6 cortical layers. A severe lack of myelination was also evident using anti-LDL receptor sera.

  • The pancreas in Smith-Lemli-Opitz syndrome may be enlarged and have hyperchromatic nuclei in the islet cells. Severely affected infants have defective or absent pulmonary lobation.

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