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Child with genetically confirmed Prader-Willi syndrome

Year: 2026

Type: article

Abstract: Prader-Willi syndrome (PWS) is a rare genetic disorder caused by loss of paternal genes on chromosome 15. It is characterised by hyperphagia, obesity, endocrine deficiencies and neurodevelopmental challenges. We report on a boy in his early teens presenting with short stature, early-onset obesity and clinical features consistent with PWS. Genetic testing confirmed maternal uniparental disomy of chromosome 15. Management included food restriction and increased physical activity, resulting in modest improvement. This case highlights the diagnostic and management challenges of PWS in resource-limited settings and underscores the value of comprehensive genetic testing in clarifying phenotypic variations.

Source: BMJ Case Reports

DOI: 10.1136/bcr-2026-273026

Authors: Menbere Gebreanania Kahssay, Katherine Oyieke, Charlotte Hoybye

Institutions: Aga Khan University Hospital Nairobi, Aga Khan University Nairobi, Karolinska Institutet

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7213533410

FWCI:

Cites: 10

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