Dysmorphic syndrome in newborn with hypocholesterolemia

Authors

  • Inês Ferreira Metabolic Disease Unit of Pediatric Service of Centro Materno Infantil do Norte, Centro Hospitalar do Porto
  • Sandra Pereira Pediatric Service of Centro Materno Infantil do Norte, Centro Hospitalar do Porto
  • Sónia Lira Pediatric Service of Centro Materno Infantil do Norte, Centro Hospitalar do Porto
  • Anabela Bandeira Metabolic Disease Unit of Pediatric Service of Centro Materno Infantil do Norte, Centro Hospitalar do Porto
  • Dulce Quelhas Centro de Genética Médica Jacinto Magalhães
  • Esmeralda Martins Metabolic Disease Unit of Pediatric Service of Centro Materno Infantil do Norte, Centro Hospitalar do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v24.i3.8541

Keywords:

Hypocholesterolemia, Smith-Lemli-Opitz syndrome, 7- dehydrocholesterol

Abstract

Introduction: There are various diseases caused by errors of the biosynthesis of cholesterol and Smith-Lemli-Opitz syndrome is the most frequent.

Clinical Case: Infant admitted at 31 days of life with feeding difficulties since birth and failure to thrive. He presented dysmorphic craniofacial features and pos axial limb malformations, hypotonia, weak spontaneous movements and week reflexes. Investigation revealed hypocholesterolemia and an elevation of cholesterol precursors, which allowed the diagnosis of Smith-Lemli-Opitz syndrome, confirmed by molecular analysis. The administration of cholesterol resulted in weight gain.

Discussion: The Smith-Lemli-Opitz syndrome is a multiple congenital malformation syndrome, of autosomal recessive transmission, resulting from an inborn error of cholesterol biosynthesis. It is caused by a defect in 7-dehydrocholesterol reductase, which decreases levels of cholesterol and elevates its precursors. Supplementation with cholesterol has been proven successful in the achievement of partial clinical improvements.

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References

Porter FFD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 2011; 52: 6-34

Kelley RI, Hennekam RCM. The Smith-Lemli-Opitz syndrome – review article. J Med genet 2000; 37:321-35.

Haas D, Kelley RI, Hoffmann GF. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001; 32:113-122.

DeBarber AE, Eroglu Y, Merkens LS, Pappu AS; Steiner RD. Smith-Lemli-Opitz syndrome - review. Expert Rev Mol Med 2001; 22(e24):1-19.

Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome.Clin Genet 2005; 68(5):383-91.

Piyush BT, Shailesh MP, Chinmay JS, Niharika U. Establishment of reference range for lipid profile for healthy newborns, infant and low birth weight newborn in Indian population. Journal of Pharmaceutical and Scientific Innovation July-August 2012, 34-6.

Cardoso ML, Bandeira A, Lopes A, Rodrigues M, Venâncio M, Marques JS, Janeiro P, Ferreira I, Quelhas D, Sequeira S, Soares G, Lourenço T, Rodrigues R, Gaspar A, Nunes L, Marques F, Martins E. A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos doentes portugueses. Acta Pediatr Port 2012;43(2):47-52

Porter FD. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2008; 16(5):535-41.

Cardoso ML, Fortuna AM, Castedo S, Martins M, Montenegro N, Jakobsll C, et al. Diagnóstico pré-natal de síndrome de Smith-Lemli-Opitz. ArqMed 2005; 19(1-2):23-7.

Sikora DM, Pettit-Kehel K, Penfield J, Merkens LS, Steiner RD. The new universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J MedGenet A 2006; 140:1511-8.

Chan YM, Merkens LS, Connor WE, Roullet JB, Penfield JA; Jordan JM, et al. Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res 2009; 65(6):681-5.

Kelley RI e Hennekam RC. The Smith-Lemli-Opitz syndrome. Journal of Medical Genetics 2000; 37:321-35.

Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen- Zijlstra FS, van Heyst AF et al. Sinvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.J LipidRes 2000; 41:1339-46.

Jira PE, Waterham HR, Wanders RJ, Smeitink JAM, Sengers RCA, Wevers RA. Smith-Lemli-Opitz Syndrome and the DHCR7 Gene. Annals of Human Genetics 67; 269-80.

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Published

2015-09-15

How to Cite

1.
Ferreira I, Pereira S, Lira S, Bandeira A, Quelhas D, Martins E. Dysmorphic syndrome in newborn with hypocholesterolemia. REVNEC [Internet]. 2015Sep.15 [cited 2025Jan.24];24(3):119-23. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/8541

Issue

Vol. 24 No. 3 (2015)

Section

Case Reports

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