Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: a report of two cases.
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.
O'Shea
Anne-Marie
AM
Department of Pathology and Laboratory Medicine, The Mount Sinai Hospital, Toronto, Ontario, Canada.
Wilson
Gregory J
GJ
Ling
Simon C
SC
Minassian
Berge A
BA
Turnbull
Julie
J
Cutz
Ernest
E
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects; D016026:Bone Marrow Transplantation; D015913:Chelation Therapy / Q000009:adverse effects*; D002675:Child, Preschool; D003676:Deferoxamine / Q000009:adverse effects*; D003937:Diagnosis, Differential; D004314:Down Syndrome; D022781:Hepatocytes / Q000187:drug effects* / Q000378:metabolism / Q000648:ultrastructure*; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000187:drug effects / Q000378:metabolism / Q000648:ultrastructure*; D007501:Iron; D020192:Lafora Disease / Q000473:pathology; D015470:Leukemia, Myeloid, Acute / Q000628:therapy; D008297:Male; D046529:Microscopy, Electron, Transmission; D017085:alpha-Thalassemia / Q000188:drug therapy
D000900:Anti-Bacterial Agents; D007501:Iron; D003676:Deferoxamine