Download PDF
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0044-1787145
Case Report

Amish Infantile Epilepsy in an Indian Child

Ratnapriya Chowdhry 
1   Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India
,
Santosh Kondekar
1   Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India
,
Gulrej Shaikh
1   Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

Consanguineous marriages in India continue to give rise to a wide spectrum of recessively inherited disorders that require a broader base of knowledge. A 2-year-old boy presented with global development delay, persistent vomiting, drug refractory seizures, deafness, and central hypotonia. He had profound bilateral hearing loss, barium swallow showed severe reflux but magnetic resonance imaging brain was normal, leading to a diagnostic dilemma. A normal electromyogram with nerve conduction velocity ruled out disorders of muscle and nerve. Whole-exome sequencing showed salt and pepper development regression syndrome but phenotypically, he did not have the classic skin changes. He has shown mild improvement in cognition, mobility, and weight gain with citicoline, antireflux medications, antiseizure medications, and a protein diet. Accurate diagnosis based on cohort of symptoms and appropriate early intervention can help improve the quality of life in such children.

Keywords

consanguinity - intractable epilepsy - vomiting - deafness


Publication History

Received: 19 March 2024

Accepted: 25 April 2024

Article published online:
30 May 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 2004; 75 (02) 282-293
    CrossrefPubMedGoogle Scholar
  • 2 Inamori K-I, Inokuchi J-I. Ganglioside GM3 synthase deficiency in mouse models and human patients. Int J Mol Sci 2022; 23 (10) 5368
    CrossrefPubMedGoogle Scholar
  • 3 Boccuto L, Aoki K, Flanagan-Steet H. et al. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet 2014; 23 (02) 418-433
    CrossrefPubMedGoogle Scholar
  • 4 Wang H, Bright A, Xin B, Bockoven JR, Paller AS. Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. Am J Med Genet A 2013; 161A (04) 875-879
    CrossrefPubMedGoogle Scholar
  • 5 Yoshikawa M, Go S, Suzuki S. et al. Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. Hum Mol Genet 2015; 24 (10) 2796-2807
    CrossrefPubMedGoogle Scholar
  • 6 Bowser LE, Young M, Wenger OK. et al. Recessive GM3 synthase deficiency: natural history, biochemistry, and therapeutic frontier. Mol Genet Metab 2019; 126 (04) 475-488
    CrossrefPubMedGoogle Scholar
  • 7 Cruz V, Xin B, Wang H. GM3 Synthase Deficiency. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A. eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993
    Google Scholar
  • 8 Yang H, Brown Jr RH, Wang D, Strauss KA, Gao G. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery. JCI Insight 2023; 8 (09) e168688
    CrossrefPubMedGoogle Scholar