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Cited by 54Fetal and Pediatric Neurological DisordersMetabolism and Genetic DisordersNeurological diseases and metabolism

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

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Lee, Ryan W.Y., Conley, Sandra K., Gropman, Andrea, Porter, Forbes D., Baker, Eva H.·2013·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.36096PMC PMC3787998
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Abstract

Smith–Lemli–Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7‐dehydrocholesterol reductase (DHCR7). There are only a few studies describing the brain imaging findings in SLOS. This study examines the prevalence of magnetic resonance imaging (MRI) abnormalities in the largest cohort of patients with SLOS to date. Fifty‐five individuals with SLOS (27 M, 28 F) between age 0.17 years and 25.4 years (mean = 6.2, SD = 5.8) received a total of 173 brain MRI scans (mean = 3.1 per subject) on a 1.5T GE scanner between September 1998 and December 2003, or on a 3T Philips scanner between October 2010 and September 2012; all exams were performed at the Clinical Center of the National Institutes of Health. We performed a retrospective review of these imaging studies for both major and minor brain anomalies. Aberrant MRI findings were observed in 53 of 55 (96%) SLOS patients, with abnormalities of the septum pellucidum the most frequent (42/55, 76%) finding. Abnormalities of the corpus callosum were found in 38 of 55 (69%) patients. Other findings included cerebral atrophy, cerebellar atrophy, colpocephaly, white matter lesions, arachnoid cysts, Dandy–Walker variant, and type I Chiari malformation. Significant correlations were observed when comparing MRI findings with sterol levels and somatic malformations. Individuals with SLOS commonly have anomalies involving the midline and para‐midline structures of the brain. Further studies are required to examine the relationship between structural brain abnormalities and neurodevelopmental disability in SLOS. © 2013 Wiley Periodicals, Inc.

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Authors
Lee, R. W. Y., Conley, S. K., Gropman, A., Porter, F. D., & Baker, E. H.
Affiliations
  • Kennedy Krieger Institute (US)
  • National Institutes of Health (US)
  • Children's National (US)
Corresponding author
Lee, Ryan W.Y.
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2013-08-05
Volume
161
Issue
10
Pages
2407-2419
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.36096
PMC
PMC3787998
OpenAlex
W1971896806
Cited by
54
References
5
Citations by year
2026: 1 · 2025: 2 · 2024: 2 · 2023: 2 · 2022: 4 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 10 · 2015: 4 · 2014: 5 · 2013: 1
FWCI
6.22
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIAHD008825)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
Smith-Lemli-Opitz syndrome, brain MRI abnormalities, corpus callosum abnormalities, cholesterol metabolism disorders, brain atrophy, cerebellar atrophy, colpocephaly, white matter lesions, arachnoid cyst, Dandy-Walker variant, Chiari malformation, neurodevelopmental disorders
MeSH terms
Adolescent, Adult, Brain, Child, Child, Preschool, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Severity of Illness Index, Smith-Lemli-Opitz Syndrome, Young Adult

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