Corpus Callosum in Smith-Lemli-Opitz Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-9-6

Abstract

Investigators at the Kennedy Krieger Institute and Johns Hopkins University, Baltimore; and the National Institutes of Health, Bethesda, MD, studied the relation between the size of the corpus callosum (CC), level of serum 7-dehydrocholesterol (7DHC), and severity of developmental delay in 36 subjects with Smith-Lemli-Opitz syndrome (SLOS), compared to 36 normal controls.

Highlights

DEVELOPMENTAL DISORDERSSmith-Lemli-Opitz syndrome (SLOS) (or 7-dehydrocholesterol reductase deficiency) is an autosomal recessive metabolic and developmental congenital disorder, first described in 1964
8 (66.7%) were seizure-free and showed significantly higher postoperative developmental quotient (DQ) than those with seizures
The authors conclude that early surgical intervention for hemimegalencephaly is preferable to brain damage from repeated seizures and encephalopathy and long-term AED use

Summary

DEVELOPMENTAL DISORDERS

SLOS (or 7-dehydrocholesterol reductase deficiency) is an autosomal recessive metabolic and developmental congenital disorder, first described in 1964 A newly recognized syndrome of multiple congenital anomalies. Hypoplasia/agenesis of the corpus callosum is reported less frequently, as well as holoprosencephaly. Mutations in the DHCR7 gene are the cause, the enzyme responsible for production of cholesterol, an essential nutrient for embryonic development. Sequencing analysis of DHCR7 detects ~96% of known mutations. MRI and 1H-MRS may prove effective in assessment of effects of cholesterol replacement therapy in patients with SLOS (Caruso PA et al Neuroradiology 2004 Jan;46(1):). Of 18 patients with SLOS, abnormal CNS findings were noted in 5 patients, including callosal abnormalities in 4 (22%), Dandy-Walker variant in 1, arachnoid cyst in 1, and holoprosencephaly in 1 (6%). Clinical degree of disease severity was correlated with lipid:choline ratios

DEVELOPMENTAL OUTCOME FOLLOWING HEMISPHERECTOMY FOR HEMIMEGALENCEPHALY

Findings

NEUROCUTANEOUS DISORDERS mTOR INHIBITION AND TUBEROUS SCLEROSIS PREVENTION