Related Experiment Video
Updated: Sep 28, 2025
Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
Published on: April 12, 2024
Case Report: Hepatic Adenomatosis in a Patient With Prader-Willi Syndrome
Hajar Dauleh1, Ali Soliman1, Basma Haris1
1Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar.
Insights
Prader-Willi syndrome (PWS) patients with obesity and type 2 diabetes may develop non-alcoholic fatty liver and liver adenomatosis. This case highlights a rare complication in PWS, suggesting further investigation into liver health in these patients.
Area of Science:
- Genetics
- Endocrinology
- Hepatology
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder affecting chromosome 15q11.2-q13, leading to hypotonia, feeding issues, obesity, and increased risk of type 2 diabetes mellitus.
- Non-alcoholic fatty liver disease (NAFLD) is increasingly recognized in PWS patients, especially those with morbid obesity.
- Liver adenomatosis, characterized by multiple benign liver vascular lesions, is a rare condition with limited pediatric literature.
Observation:
- This report details the first case of a Prader-Willi syndrome patient presenting with severe obesity, type 2 diabetes mellitus, and NAFLD who subsequently developed liver adenomatosis.
- The patient's complex metabolic and genetic profile presented a unique clinical scenario.
Findings:
- The co-occurrence of PWS, severe obesity, type 2 diabetes, NAFLD, and liver adenomatosis in a single patient is unprecedented.
- A review of pediatric literature on liver adenomatosis was conducted to contextualize this rare finding.
Implications:
- This case suggests a potential link between the metabolic derangements in PWS and the development of liver adenomatosis.
- Further research is warranted to elucidate the underlying mechanisms connecting PWS, metabolic syndrome, and hepatic vascular lesions.
- Enhanced surveillance for liver pathology, including vascular lesions, may be beneficial for PWS patients with significant obesity and comorbidities.
Abstract:
Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome region 15q11.2-q13. It is a multisystem disorder that is characterized by severe hypotonia with poor suck and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity. The incidence of type 2 diabetes mellitus is high, particularly in obese patients. Non-alcoholic fatty liver disease has also been reported in some patients with PWS. Liver adenomatosis is a benign vascular lesion of the liver, defined by the presence of >10 adenomas, in the otherwise healthy liver parenchyma. We report the first case of a patient with PWS with severe obesity, type 2 diabetes mellitus, and non-alcoholic fatty liver who also developed liver adenomatosis, review the pediatric literature on liver adenomatosis, and discuss the potential underlying mechanisms.
