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Prader-Willi Syndrome presents with initial growth failure followed by progressive weight gain, excessive eating, and cognitive impairment in children

This case report describes a 7-year-old Nigerian girl with Prader-Willi Syndrome confirmed by DNA analysis, who presented with a 4-year history of progressive weight gain, voracious appetite, snoring during sleep, and poor academic performance. She had feeding difficulties and growth failure in the first year of life, followed by excessive eating and weight gain from age 3. Dietary modification and planned exercises led to a 3 kg weight loss over eight months.

Last updated: Jul 25, 2026•0 RCTs•📖 Read as article →

Evidence Score

Evidence Score32/100
Human RCT☆☆☆☆☆
Meta-analysis☆☆☆☆☆
Mechanism★★★★★
Safety★★★★☆
Confidencelow

Study Evidence

Study 1. Prader Willi Syndrome with Maternal Uniparental Disomy Mutation in a 7-year- old Nigerian girl- A Case Report.

observational

Ashubu OF, Oyenusi EE, Moronkola OA, Alakaloko AE, Oyenusi AS · Nigerian medical journal : journal of the Nigeria Medical Association (2026)

Participants: N/A
Duration: 8 months
Intervention: Dietary modification and planned exercises
Outcome: Weight loss (3 kg over eight months), snoring during sleep, academic performance
Effect Size: N/A
Population: 7-year-old Nigerian girl with genetically confirmed Prader-Willi Syndrome (maternal uniparental disomy mutation)

Result:

PubMed: 42488873DOI: 10.3389/fped.2021.633532

Mechanism Graph

Genetic imprinting defect on chromosome 15 (maternal uniparental disomy)
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Initial hypothalamic dysfunction leading to feeding difficulties and growth failure in infancy
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Subsequent hypothalamic dysfunction causing hyperphagia and reduced energy expenditure
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Progressive weight gain, obesity, and associated comorbidities (e.g., sleep-disordered breathing, cognitive impairment)

Limitations

  • ⚠Single case report, not generalizable to broader PWS population
  • ⚠No control group or statistical analysis; observational only

Frequently Asked Questions

What is Prader-Willi Syndrome?▼

Prader-Willi Syndrome is a genetic disorder caused by loss of function of genes on chromosome 15 from the paternal allele, leading to initial feeding difficulties and growth failure, followed by hyperphagia, obesity, and cognitive impairment.

How is Prader-Willi Syndrome diagnosed?▼

Diagnosis is based on clinical features (e.g., characteristic facial appearance, hypotonia, hyperphagia, obesity) and confirmed by DNA analysis, such as methylation testing or chromosomal microarray.

What treatments are available for Prader-Willi Syndrome?▼

Management includes dietary modification, planned exercise, growth hormone therapy, and assisted learning. Early lifestyle intervention can help reduce excessive weight gain.

Is Prader-Willi Syndrome common in Nigeria?▼

This is the first genetically confirmed case of PWS in Nigeria, suggesting limited awareness and insufficient recognition of the syndrome in the region.

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References

  1. 1.Ashubu OF, Oyenusi EE, Moronkola OA, Alakaloko AE, Oyenusi AS. "Prader Willi Syndrome with Maternal Uniparental Disomy Mutation in a 7-year- old Nigerian girl- A Case Report.." Nigerian medical journal : journal of the Nigeria Medical Association, 2026. PMID: 42488873 DOI: 10.3389/fped.2021.633532
Disclaimer: This content is for educational purposes only and is not medical advice. Evidence scores reflect the quality and quantity of available research, not clinical recommendations. Always consult a healthcare professional before starting any supplement or intervention.