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
Keywords: West syndrome, Patau syndrome, mosaic trisomy 13, prognosis


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


1. Spagnoli C, Kugathasan U, Brittain H, Boyd SG. Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: an EEG study. Brain Dev. 2015;37:704-13.
2. Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D. A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature. Am J Med Genet A. 2011;155A:638-41.
3. Hsu HF, Hou JW. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet A. 2007;143A:1739-48.
4. Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, et al. The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia. 2010;51:2168-74.
5. Yamanouchi H, Imataka G, Nakagawa E, Nitta A, Suzuki N, Hirao J, et al. An analysis of epilepsy with chromosomal abnormalities. Brain Dev. 2005;27:370-7.
6. Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, et al. Infantile spasms: a US consensus report. Epilepsia. 2010;51:2175-89.
7. Pachajoa H, Meza Escobar LE. Mosaic trisomy 13 and a sacral appendage. BMJ Case Rep. 2013;31:2013.
8. Hino-Fukuyoa N, Haginoyaa K, Iinumaa K, Uematsua M, Tsuchiyaa S. Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. Epilepsy Res. 2009;87:299-301.
9. Sanmaneechai O, Sogawa Y, Silver W, Ballaban-Gil K, Moshé SL, Shinnar S. Treatment outcomes of West syndrome in infants with Down syndrome. Pediatr Neurol. 2013;48:42-7.
10. Griffith CB, Vance GH, Weaver DD. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am J Med Genet A. 2009;149A:1346-58.
11. Palmini A, Halasz P, Scheffer IE, Takahashi Y, Jimenez AP, Dubeau F, et al. Reflex seizures in patients with malformations of cortical development and refractory epilepsy. Epilepsia. 2005;46:1224-34.
12. Ribacoba R, Menendez-Gonzalez M, Hernando I, Salas J, Giros ML. Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy. Int Arch Med. 2008;1:5.
13. Auvin S, Hartman AL, Desnous B, Moreau AC, Alberti C, Delanoe C, et al. Diagnosis delay in West syndrome: misdiagnosis and consequences. Eur J Pediatr. 2012;171:1695-701.
14. Wheless JW, Gibson PA, Rosbeck KL, Hardin M, O'Dell C, Whittemore V, et al. Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents. BMC Pediatr. 2012;12:108.
15. Napuri S, LE Gall E, Dulac O, Chaperon J, Riou F. Factors associated with treatment lag in infantile spasms. Dev Med Child Neurol. 2010;52:1164-6.
16. Lagae L, Verhelst H, Ceulemans B, De Meirleir L, Nassogne MC, De Borchgrave V, et al. Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study. Seizure. 2010;19:159-64.
17. Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111:777-84.
18. Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, et al. Patau syndrome with long survival in a case of unusual mosaic trisomy 13. Eur J Med Genet. 2008;51:303-14.
19. Imataka G, Hagisawa S, Nitta A, Hirabayashi H, Suzumura H, Arisaka O. Long-term survival of full trisomy 13 in a 14 year old male: a case report. Eur Rev Med Pharmacol Sci. 2016;20:919-22.
20. Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63:191-8.
21. Imataka G, Tsuboi Y, Kano Y, Ogino K, Tsuchioka T, Ohnishi T, et al. Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13. Eur Rev Med Pharmacol Sci. 2015;19:2852-5.
22. Chen CP. Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol. 2010;49:13-22.
How to Cite
Ben Hamouda H, Soua H, Dogui M, Hamza H, Sfar M. West syndrome and mosaic trisomy 13: A case report. PI [Internet]. 31May2018 [cited 13Jul.2024];58(3):146-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/1646
Case Report
Received 2017-09-27
Accepted 2018-05-25
Published 2018-05-31