Trouble doubled: a rare case of Schaaf Yang syndrome with severe acute malnutrition

Authors

  • Prajitha Sasidharan Department of Pediatrics, MVJ Medical College and Research Hospital, Bengaluru, Karnataka, India
  • Shalini Yadav Department of Pediatrics, MVJ Medical College and Research Hospital, Bengaluru, Karnataka, India
  • Usha Rani Department of Pediatrics, MVJ Medical College and Research Hospital, Bengaluru, Karnataka, India
  • Varsha S. Ahirrrao Department of Pediatrics, MVJ Medical College and Research Hospital, Bengaluru, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20241382

Keywords:

Schaaf Yang syndrome, Failure to thrive, , Development delay

Abstract

Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the Melanoma antigen L2 (MAGEL2) gene. Developmental delay, feeding difficulties with joint contractures and a high prevalence of development disorders including autism are characteristic of this syndrome. We describe a unique case of an infant with Schaaf-Yang syndrome who presented with failure to thrive. The case emphasizes the need for genome sequencing for early diagnosis and management of this rare genetic disease. It also highlights the need to think beyond nutrition when it comes to severe acute malnutrition.

References

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Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013;45(11):1405-8.

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Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, et al. The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis. 2020;15(1):294.

Andrade D, Lira G, Andrade R, Silva T, Borges do Nascimento IJ, Boath A, et al. Schaaf-Yang syndrome: A novel variant in MAGEL2 gene in the first Brazilian preterm neonate. Int J Case Rep Images. 2020;11:101144Z01GA2020.

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Published

2024-05-27

Issue

Section

Case Reports