Acute DiGuglielmos Syndrome in a 2 Month Old Boy - A Very Rare Case Report

Title Acute DiGuglielmo's Syndrome in a 2 month old boy - A very rare case report. Author - Dr Mirza Asif Baig1 , Dr Anil K. Sirasagi2 1) Former Asst. professor BLDUs Shri B. M. Patil medical college Bijapure, Karnataka, India 2) Associate professor ESI medical college Gulbarga, Karnataka, India Correspondence Dr Mirza Asif Baig MD (Pathology) Email- drasifbaig@yahoo. com Acute erythroid leukemia ( AEL) was first described by coppelli in 1912 as eritromatosis in a patient with hepatosplenomegaly, foci of erythroblast in liver, spleen, lymph node and bone marrow. Giovanni Di Guglielmo-s first described Erythroleukemia in the 20th century and the disorder is often still referred to as Acute Di Guglielmo-s syndrome. It is classified as Acute Myeloid leukemia (AML) M6 in FAB Classification system. It includes 2 subtypes AML M6a ( erythroid/ Myeloid) Leukemia and rare Subtype AML M6b ( Pure Erythroid Leukemia). Erythroleukemia comprises 1% of all AML cases. It usually occurs in adult Males. A 2 month old boy presented with hepatosplenomegaly, Ascitis and fever. Preliminary investigation shows bicytopenia elevated liver enzymes and increased serum ferritin Periperal smear Shows Leucoerythroblastic picture. Bone marrow aspirate shows 85 % of cells comprising predominantly of Erythroblasts with few proerythroblasts Mild dyserythropoises and Pawn bowl Megakaryocytes noted. Diagnosis - ACUTE MYELOID LEUKEMIA - M6b Immunophenotyping by flow cytometry shows about 35% of cells are blasts positive for CD 13, 33, 4, 7, 71, 38, glycophorine, CD 11 Acute erythroleukemia is a rare form of AML & it accounts for less than 5% of all AML. AML M6b also known as acute pure erythroid leukemia is a very rare entity especially in 2 month old. Due to its rarity the frequency and incidence cannot be determined exactly. In this case 85% Erythroblasts were noted favouring a diagnosis of pure Erythroid leukemia which is very rare in this age group. AML M6 is a rare entity and its subtype M6B in 2 months old is rarest of rare case. The very rare nature of this subtype and dismal prognosis merits its reporting Myelodysplastic syndrome, Acute Erythroid leukemia, Pure erythroid leukemia AML-M6, Leukoerythroblasts.