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Isolated polycystic liver disease in a child
Irene Mutua1, Hargura Sakulen2
1Pediatric Surgeon, Kenyatta University Teaching Referral and Research Hospital, Kenya.
Insights
This case report details a rare instance of symptomatic isolated polycystic liver disease (PCLD) in a child, successfully treated with hepatic resection. Early detection and intervention are key for managing PCLD and preventing complications.
Area of Science:
- Hepatology
- Pediatric Surgery
- Medical Genetics
Background:
- Polycystic liver disease (PCLD) is a genetic disorder characterized by numerous liver cysts, often associated with polycystic kidney disease (PKD).
- While PCLD is typically seen in adults and frequently linked to PKD, isolated cases, especially in children, are rare.
- This report focuses on a pediatric case of symptomatic PCLD occurring without concurrent kidney involvement.
Observation:
- A 23-month-old female presented with a large abdominal mass, vomiting, and respiratory distress.
- Physical examination revealed massive abdominal distension and irritability.
- Imaging confirmed a large intra-abdominal cyst with normal kidneys, and laparotomy identified multiple exophytic liver cysts.
Findings:
- Histological examination of the resected liver cysts confirmed Von Meyenburg complexes, indicative of PCLD.
- The patient underwent successful hepatic resection and recovered without complications.
- Liver function tests showed elevated enzymes but preserved synthetic function.
Implications:
- This case highlights the importance of considering isolated PCLD in pediatric patients with abdominal masses and gastrointestinal symptoms.
- Complete resection of liver cysts is crucial for symptom management and to mitigate the risk of cholangiocarcinoma.
- Long-term follow-up is essential to monitor for cyst recurrence and potential malignant transformation.
Introduction:
Polycystic liver disease (PCLD) is a genetic disorder characterized by the growth of >10 cysts in the liver. PCLD is associated with polycystic kidney disease (PKD) in 80-90%of cases (Kothadia et al., 2023 [1]). PCLD can occur in isolation though rarely in children. We present a case report of a child with symptomatic isolated PCLD.
Case Presentation:
A 23-month old female child presented with a 17-month history of gradual increase in abdominal mass. She had acute onset of postprandial vomiting and shortness of breath while lying flat. On examination, she was irritable with massive abdominal distension. Liver function test done showed markedly elevated liver enzymes with preservation of liver synthesis function. Computed tomography (CT) scan showed a large intra-abdominal cyst and normal kidneys bilaterally. During laparotomy, we found multiple exophytic cysts arising from segment IVa of the liver. Hepatic resection was done successfully and patient recovered uneventfully. Histology showed Von Meyenburg complexes characteristic of PCLD.
Clinical Discussion:
The goal of management should be to counter symptomatology by intervening on developed cysts. The therapeutic options are individualized to address the symptoms and improve the patients' quality of life. Follow up of the patients is based on the presentation and intervention performed, during which period recurrence of cysts is assessed. Complete resection of the liver cysts is recommended to avoid the risk of cholangiocarcinoma.
Conclusion:
Close follow up by physical examination, laboratory tests and imaging modalities is necessary to detect any recurring masses and malignancy transformation of the cysts to enable timely intervention.
