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Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child
Nadia Shirazi1, Brahma Prakash Kalra2, Nowneet Kumar Bhat3
1Associate Professor, Department of Pathology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University , Jolly Grant, Dehradun, Uttarakhand, India .
Insights
This study reports a rare case of hepatoblastoma, a childhood liver cancer, co-occurring with glycogen storage disease in an infant. This highlights the importance of considering metabolic disorders in pediatric cancer diagnoses.
Area of Science:
- Pediatric Oncology
- Hepatology
- Medical Genetics
Background:
- Hepatoblastoma is a rare pediatric liver cancer, typically diagnosed in early childhood.
- Diagnosis relies on histopathology, often preceded by elevated alpha-fetoprotein levels and abdominal mass.
- While associated with syndromes like FAP and Beckwith-Wiedman, storage disorders are infrequently documented comorbidities.
Observation:
- A case of an infant male presenting with an abdominal mass and failure to thrive is described.
- The infant was diagnosed with hepatoblastoma.
- The patient also had a co-existent glycogen storage disease.
Findings:
- This case highlights an uncommon co-occurrence of hepatoblastoma and glycogen storage disease.
- The presentation included a progressively increasing abdominal mass and failure to thrive.
- Histopathological confirmation was essential for the hepatoblastoma diagnosis.
Implications:
- This case underscores the need to consider metabolic and storage disorders in the differential diagnosis of pediatric liver tumors.
- Further research may elucidate potential links between genetic metabolic disorders and hepatoblastoma development.
- Early identification of co-existing conditions is crucial for comprehensive patient management and treatment strategies.
Abstract:
Hepatoblastoma is an uncommon malignant liver tumour diagnosed usually during the first three years of life. It presents as abdominal mass with elevated alpha fetoprotein levels. The definite diagnosis requires histopathological confirmation. Although conditions like Familial Adenomatous Polyposis (FAP) or Beckwith-Wiedman Syndrome may be associated with hepatoblastomas, storage disorders are uncommonly documented. We describe a rare case of hepatoblastoma with co-existent glycogen storage disease in an infant male who presented with a progressively increasing mass in abdomen along with failure to thrive.
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