Child with genetically confirmed Prader-Willi syndrome.
Menbere Gebreanania Kahssay, Katherine Oyieke, Charlotte Hoybye
✦ AI-curated · Sources linked
Case in brief
A boy in his early teens presented with short stature, early-onset obesity, and features indicative of Prader-Willi syndrome (PWS). Genetic testing revealed maternal uniparental disomy of chromosome 15, confirming the diagnosis. Management focused on food restriction and increased physical activity, leading to modest improvement in his condition. This case illustrates the complexities of diagnosing and managing PWS, particularly in resource-limited environments.
Diagnostic / clinical pearl
Comprehensive genetic testing is crucial for accurately diagnosing Prader-Willi syndrome, especially given its phenotypic variability.
Why it matters
This case emphasizes the diagnostic and management challenges of PWS in settings with limited resources, highlighting the need for tailored approaches.