Smith-Lemli-Opitz Syndrome: case report and literature review

Main Article Content

María del Rocío Pérez Crespo
Ana Vidal Esteban
Lidia Brea Prieto
Cristina Serrano Riolobos
Ainhoa Martín Arévalob
Abdulkareem Alarabe Alarabeb

Abstract

Skin reactions induced by drugs in pediatrics are rare entities; However, these are associated Smith-Lemli-Opitz syndrome is an autosomal recessive disorder characterized by multiple congenital malformation, intellectual disability and behavioral problems. It is due to mutations of DHCR7 with a deficiency of 7-dehydrocholesterol reductase. This enzyme catalyzes the reduction of 7-dehydrocholesterol to cholesterol. Therefore, it results inincreased 7-dehydrocholesterol levels and other cholesterol precursors, and decreased cholesterol levels in blood and biological tissues. Its phenotypic spectrum varies broadly with characteristic physical malformations such as microcephaly, characteristic face, genital abnormalities in male patients, intellectual disability and syndactyly of the second and third toes. The clinical diagnosis is confirmed by finding elevated 7-dehydrocholesterol and mutations in DHCR7, and prenatal diagnosis is also possible. The treatment is a symptomatic treatment and dietary cholesterol supplementation is beneficial. On the other hand, other therapies are being studied such as simvastatin treatment and antioxidant supplementation.

Downloads

Download data is not yet available.

Article Details

How to Cite
Pérez Crespo, M. del R., Vidal Esteban, A., Brea Prieto, L., Serrano Riolobos, C., Martín Arévalob, A., & Alarabe Alarabeb, A. (2018). Smith-Lemli-Opitz Syndrome: case report and literature review. Pediatría, 51(2), 43–47. https://doi.org/10.14295/pediatr.v51i2.115
Section
Case report

References

1. Lazarin GA, Haque IS, Evans EA, Goldberg JD. Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. Prenatal Diagnosis 2017;37:350-355.

2. Peng Y, Myers R, Zhang W, Alexov E. Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. Int. J. Mol. Sci. 2018;19:141.

3. Porter FD. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. European Journal of Human Genetics 2008;16:535-541.

4. Donoghue SE, Pitt JJ, Boneh A, White SM. Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab 2018;31(4):451-459.

5. Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs 2015;3(3):267-280.

6. Witsch-Baumgartner M, Lanthaler B. Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. European Journal of Human Genetics 2015;23:277-278.

7. Movassaghi M, Bianconi S, Feinn R, Wassif CA et al. Vitamin D levels in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017;173(10):2577-2583.

8. Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet 2000;37:321-35.
9. Yang Y, Yassan L, Yun Leung EK, Yeo K-TJ. Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. Clinica Chimica Acta. 2018;479:208-211.

10. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, et al. Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet. 1987;28:723-31.

11. Cross JL, Iben J, Simpson CL, Thurm A et al. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. Clin Genet. 2015;87(6):570-5.

12. Jezela-Stanel A, Malunowicz E, Anna S, Kucharczyk M, et al. Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. Ginekol Pol. 2015;86:598-602.

13. Wassif CA, Kratz L, Sparks SE, Wheeler C et al. A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome. Genet Med. 2017;19(3):297-305.

14. Korade Z, Xu L, Harrison FE, Ahsen R et al. Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz Syndrome (SLOS). Biol Psychiatry. 2014;75(3):215-22.

15. Travessa A, Dias P, Rocha P, Sousa AB. Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. Taiwanese Journal of Obstetrics & Gynecology. 2017; 56:541-544.

Similar Articles

1 2 3 4 5 6 7 8 9 10 > >> 

You may also start an advanced similarity search for this article.