Neurological Involvement in the Smith‐Lemli‐Opitz Syndrome: Clinical and Neuropathological Findings

García, Carlos; McGarry, Paul; Voirol, M; Duncan, Christian A.

doi:10.1111/j.1469-8749.1973.tb04865.x

Cited by 32 publications

(4 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…ACC has been noted in several enzyme deficiencies affecting cellular metabolism, including pyruvate dehydrogenase deficiency (Patel et al, 2012), fumarase deficiency (Coughlin et al, 1998;Mroch et al, 2012), desmosterolosis (Zolotushko et al, 2011) and Smith-Lemli-Opitz syndrome (Garcia et al, 1973;Fierro et al, References in the table that are not included in the reference list can be found in the Supplementary material.…”

Section: Abnormal Post-guidance Developmentmentioning

confidence: 99%

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Edwards

Sherr²,

Barkovich

et al. 2014

Brain

306

297

View full text Add to dashboard Cite

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

show abstract

Section: Abnormal Post-guidance Developmentmentioning

confidence: 99%

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Edwards

Sherr²,

Barkovich

et al. 2014

Brain

306

297

View full text Add to dashboard Cite

show abstract

“…The incidence is estimated to be 1 in 20,000–60,000 live births [Lowry and Yong, ; Ryan et al, ; Bzduch et al, ; Kelley and Hennekam, ]. Neuropathologic studies demonstrate that individuals with SLOS can have numerous brain abnormalities including microcephaly, holoprosencephaly, atelen/aprosencephaly, abnormal gyri, aqueductal stenosis with hydrocephalus, incomplete separation of the mammillary bodies, corpus callosum agenesis, dorsal fusion of the dorsomedial nuclei, and pulvinar of the thalamus, hypoplasia of the cerebral peduncles, dysplasia of inferior olivary nuclei, deformity of the cerebellum, and atrophy of the folia, Dandy–Walker malformation, hippocampal hypoplasia, and hypothalamic hamartoma [Garcia et al, ; Cherstvoy et al, , ; Fierro et al, ; Curry et al, ; Lanoue et al, ; Angle et al, ; Kelley and Hennekam, ; Nowaczyk et al, ; Opitz et al, ; Hennekam, ; Putman et al, ; Weaver et al, ; Opitz and Furtado, ; Quélin et al, ; Grynspan et al, ]. Spinal cord abnormalities such as hydromyelia, holomyelia, and hypoplasia of the spinothalamic and spinocerebellar tracts have been described [Opitz and Furtado, ; Quélin et al, ].…”

Section: Introductionmentioning

confidence: 99%

Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome

Lee

Conley

Gropman

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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 (27M, 28F) 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.

show abstract

“…Three bad various structural abnormalities of tbe brain and spinal cord, while four bad small but otberwise macroscopically normal brains (Fine, Gwinn, and Young. 1968;Opitz ei al,, 1969;Cbakanovskis and Sutberland, 1971;Robinson et al, 1971;Garcia et al, 1973).…”

Section: Discussionmentioning

confidence: 99%