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

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2407-2419

  Lee, Ryan W Y ^a,b   Conley, Sandra K ^b   Gropman, Andrea ^c   Porter, Forbes D ^b   Baker, Eva H ^d  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Brain; Magnetic resonance imaging (MRI); Smith Lemli Opitz syndrome (SLOS)

Indexed keywords

ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN ATROPHY; BRAIN CYST; CONTROLLED STUDY; CORPUS CALLOSUM; DANDY WALKER SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; HUMAN; IMAGE ANALYSIS; INFANT; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PRIORITY JOURNAL; SEPTUM PELLUCIDUM; SMITH LEMLI OPITZ SYNDROME; WHITE MATTER LESION;

BRAIN; MAGNETIC RESONANCE IMAGING (MRI); SMITH-LEMLI-OPITZ SYNDROME (SLOS);

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; SEVERITY OF ILLNESS INDEX; SMITH-LEMLI-OPITZ SYNDROME; YOUNG ADULT;

EID: 84884983172     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36096     Document Type: Article

References (50)

1. Angle B, Tint GS, Yacoub OA, Clark A. 1998. Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis. Am J Med Genet 80:322-326.
2. Beachy PA, Cooper MK, Young KE, von Kessler DP, Park WJ, Hall TM, Leahy DJ, Porter JA. 1997. Multiple roles of cholesterol in hedgehog protein biogenesis and signaling. Cold Spring Harb Symp Quant Biol 62:191-204.
3. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML. 1987. Female external genitalia and Müllerian duct derivatives in a 46, XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28:723-731.
4. Bzduch V, Behulova D, Skodova J. 2000. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet 90:260.
5. Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Irons MB. 2004. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 46:3-314.
6. Cherstvoy ED, Lazjuk GI, Lurie IW, Nedzved MK, Usoev SS. 1975. The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet 7:382-387.
7. Cherstvoy ED, Lazjuk GI, Ostrovskaya TI, Shved IA, Kravtzova GI, Lurie IW, Gerasimovich AI. 1984. The Smith-Lemli-Opitz syndrome. Virchows Arch 404:413-425.
8. Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33:508-513.
9. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. 1997. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269.
10. Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD. 1987. Smitih-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
11. Ericson J, Muhr J, Placzek M, Lints T, Jessell TM, Edlund T. 1995. Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube. Cell 81:747-756.
12. Fantini J, Barrantes FJ. 2009. Sphingolipid/cholesterol regulation of neurotransmitter receptor conformation and function. Biochim Biophys Acta 1788:2345-2361.
13. Farruggia S, Babcock DS. 1981. The cavum septi pellucidi: Its appearance and incidence with cranial ultrasonography in infancy. Radiology 139:147-150.
14. Fierro M, Martinez AJ, Harbison JW, Hay SH. 1977. Smith-Lemli-Opitz syndrome: Neuropathological and ophthalmological observations. Dev Med Child Neurol 19:57-62.
15. Garcia CA, McGarry PA, Voirol M, Duncan C. 1973. Neurological involvement in the Smith-Lemli-Opitz syndrome: Clinical and neuropathological findings. Dev Med Child Neurol 15:48-55.
16. Golden JA. 1999. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev 21:513-521.
17. Grynspan D, Michaud J, Nikkel SM, Creede E, Staines WA. 2013. Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. Pediatr Dev Pathol [Epub ahead of print].
18. Hennekam RC. 2005. Congenital brain anomalies in distal cholesterol biosynthesis defects. J Inherit Metab Dis 28:385-392.
19. Himmelstein DS, Bi C, Clark BS, Bai B, Kohtz JD. 2010. Balanced Shh signaling is required for proper formation and maintenance of dorsal telencephalic midline structures. BMC Dev Biol 10:118.
20. Irons M, Elias ER, Salen G, Tint GS, Batta AK. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
21. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335.
22. Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M. 1996. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478-484.
23. Korade Z, Kenworthy AK. 2008. Lipid rafts, cholesterol, and the brain. Neuropharmacology 55:1265-1273.
24. Lanoue L, Dehart DB, Hinsdale ME, Maeda N, Tint GS, Sulik KK. 1997. Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog. Am J Med Genet 73:24-31.
25. Lee RW, Yoshida S, Jung ES, Mori S, Baker EH, Porter FD. 2013. Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. Pediatr Neurol (in press).
26. Linetti A, Fratangeli A, Taverna E, Valnegri P, Francolini M, Cappello V, Matteoli M, Passafaro M, Rosa P. 2010. Cholesterol reduction impairs exocytosis of synaptic vesicles. J Cell Sci 123:595-605.
27. Lowry RB, Yong SL. 1980. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet 5:137-143.
28. Mellon SH, Griffin LD. 2002. Neurosteroids: Biochemistry and clinical significance. Trends Endocrinol Metab 13:35-43.
29. Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD. 2001. Smith-Lemli-Opitz (RHS) syndrome: Holoprosencephaly and homozygous IVS8-1G→C genotype. Am J Med Genet 103:75-80.
30. Opitz JM, Furtado LV. 2012. The RSH/"Smith-Lemli-Opitz" syndrome: Historical footnote. Am J Med Genet Part C 160C:242-249.
31. Opitz JM, Gilbert-Barness E, Ackerman J, Lowichik A. 2002. Cholesterol and development: The RSH ("Smith-Lemli-Optiz") syndrome and related conditions. Pediatr Pathol Mol Med 21:158-181.
32. Porter FD. 2000. RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol Genet Metab 71:163-174.
33. Porter JA, Young KE, Beachy PA. 1996. Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259.
34. Putman AR, Szakacs JG, Opitz JM, Byrne JLB. 2005. Prenatal death in Smith-Lemli-Opitz/RSH syndrome. Am J Med Genet Part A 138A:61-65.
35. Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. 2012. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet 55:81-90.
36. Rakheja D, Boriack RL. 2008. Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. Pediatr Dev Pathol 11:128-132.
37. Rubenstein JL, Beachy PA. 1998. Patterning of the embryonic forebrain. Curr Opin Neurobiol 8:18-26.
38. Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. 1998. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype. J Med Genet 35:558-565.
39. Schwidde JT. 1952. Incidence of cavum septi pellucidi and cavum Vergae in 1, 032 human brains. AMA Arch Neurol Psychiatry 67:625-632.
40. Shaw CM, Alvord EC Jr. 1969. Cava septi pellucidi et vergae: Their normal and pathological states. Brain 92:213-223.
41. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. 2006. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet Part A 140A:1511-1518.
42. Simons K, Ehehalt R. 2002. Cholesterol, lipid rafts, and disease. J Clin Invest 110:597-603.
43. Singh P, Paila YD, Chattopadhyay A. 2007. Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin (1A) receptor: Implications in SLOS. Biochem Biophys Res Commun 358:495-499.
44. Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
45. Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. 2001. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 98:191-200.
46. Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L, Kelley RI. 2006. Abnormalities of cholesterol metabolism in autism spectrum disorders. Am J Med Genet Part B 141B:666-668.
47. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. 1994. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113.
48. Vernooij MW, Ikram MA, Tanghe HL, Vincent AJ, Hofman A, Krestin GP, Niessen WJ, Breteler MM, van der Lugt A. 2007. Incidental findings on brain MRI in the general population. N Engl J Med 357:1821-1828.
49. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Conner WE, Steiner RD, Porter FD. 1998. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62.
50. Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. 2010. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. Am J Med Genet Part C 154C:142-145.