West syndrome and mosaic trisomy 13: A case report

  • Hechmi Ben Hamouda Department of Pediatrics and Neonatology, Tahar Sfar University Hospital, 5111 Mahdia
  • Habib Soua Department of Pediatrics and Neonatology, Tahar Sfar University Hospital, 5111 Mahdia
  • Mohamed Dogui Department of Neurophysiology, Sahloul University Hospital, 4000 Sousse
  • Hassine Hamza Department of Radiology, Tahar Sfar University Hospital, 5111 Mahdia3
  • Mohamed Tahar Sfar Department of Pediatrics and Neonatology, Tahar Sfar University Hospital, 5111 Mahdia
DOI: https://doi.org/10.14238/pi58.3.2018.146-50
Keywords: West syndrome, Patau syndrome, mosaic trisomy 13, prognosis

Abstract

Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 Most patients (80%) with Patau syndrome have complete trisomy 13. Mosaic trisomy 13 is very rare; it occurs in only 5% of all patients with the trisomy 13 phenotype.2 Trisomy 13 is a clinically severe entity, and 90 to 95% of patients born with this syndrome do not survive beyond one year of life. However, patients with mosaic trisomy 13 usually have longer survival and less severe phenotype compared to patients with complete trisomy 13. Malformations mainly affect midline development, with a high frequency of central nervous system involvement. The presence of central nervous system malformations is important as a predictive factor of survival.1,3 It is well known that the incidence of epilepsy is higher in children with Patau syndrome than in the general population, and West syndrome or infantile spasms have been rarely reported in these children.1,4,5 Prior to our report, there has been no case report of West syndrome associated with mosaic trisomy 13. The association of West syndrome with trisomy 13 is considered a symptomatic West syndrome because of preexisting psychomotor development delay and the poor prognosis in most of these children.6 We report here the first case of West syndrome in a girl with mosaic trisomy 13 and discuss the clinical characteristics and prognosis of this association.

Author Biography

Hechmi Ben Hamouda, Department of Pediatrics and Neonatology, Tahar Sfar University Hospital, 5111 Mahdia



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Published
2018-05-31
How to Cite
1.
Ben Hamouda H, Soua H, Dogui M, Hamza H, Sfar M. West syndrome and mosaic trisomy 13: A case report. PI [Internet]. 31May2018 [cited 20Apr.2024];58(3):146-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/1646
Issue
Vol 58 No 3 (2018): May 2018
Section
Case Report

Copyright (c) 2018 Hechmi Ben Hamouda, Habib Soua, Mohamed Dogui, Hassine Hamza, Mohamed Tahar Sfar

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Received 2017-09-27
Accepted 2018-05-25
Published 2018-05-31