Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: a report of two cases.

Abstract

We report 2 cases of ground-glass hepatocyte inclusions occurring in pediatric patients. Case 1 had alpha-thalassaemia major and was receiving iron chelation therapy, whereas case 2 had trisomy 21 with a history of bone marrow transplantation for acute myeloid leukemia. The liver sections in both cases showed eosinophilic, periodic acid-Schiff diastase-positive intracytoplasmic inclusions that were negative for hepatitis B surface antigen. Immunohistochemically the inclusions showed positive staining with KM279, a monoclonal antibody against polyglucosan derived from Lafora inclusions. On electron microscopy, in case 1, intracytoplasmic inclusions were composed of degenerate organelles, glycogen, and irregular fibrillar structures; in case 2, they were composed of vesicular structures containing granular material. Ultrastructural changes in both cases differed from classical Lafora inclusions and ruled out hepatitis B surface antigen, glycogenosis type IV, and fibrinogen storage disease. Genetic analysis of the Lafora's disease genes performed in case 2 revealed no mutations. The development of hepatocyte cytoplasmic inclusions in both our cases could be related to medication effects, because similar inclusions were reported in patients using cyanamide. Drug-induced inclusions, mimicking Lafora's disease, should be included in the differential diagnosis of hepatocyte ground-glass inclusions.

• Authors: Anne-Marie O'Shea, Gregory J Wilson, Simon C Ling, Berge A Minassian, Julie Turnbull, Ernest Cutz
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) 2007 Sep-Oct Vol. 10 Issue 5 Pg. 351-7 ISSN: 1093-5266 [Print] United States
• PMID: 17929993 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anti-Bacterial Agents
• Iron
• Deferoxamine

Topics

• Anti-Bacterial Agents (therapeutic use)
• Antineoplastic Combined Chemotherapy Protocols (adverse effects)
• Bone Marrow Transplantation
• Chelation Therapy (adverse effects)
• Child, Preschool
• Deferoxamine (adverse effects)
• Diagnosis, Differential
• Down Syndrome
• Hepatocytes (drug effects, metabolism, ultrastructure)
• Humans
• Immunohistochemistry
• Inclusion Bodies (drug effects, metabolism, ultrastructure)
• Iron
• Lafora Disease (pathology)
• Leukemia, Myeloid, Acute (therapy)
• Male
• Microscopy, Electron, Transmission
• alpha-Thalassemia (drug therapy)