Waseem Iqbal, Faisal Khan, Muzaffar M, Umar Awab Khan, Mehmoodur Rehman, Masood Far, Abdul Bari.
Congenital Leukemia in Down syndrome.
Int J Pathol Jan ;3(2):100-1.

A term female born to 38 years old mother of nonconsanguineous marriage at Pakistan Railway & General Hospital. It was a normal vaginal delivery with no history of cytotoxic drug intake or exposure to radiation during antenatal period. Special emphasis was given to elicit the history of maternal fever, rash or lymphadenopathy in the mother in the first trimester to rule out TORCH infection. The baby had breech delivery, cyanosis at the time of birth, delayed cry and difficulty in breathing. Physical examination revealed features of Down syndrome (mongoloid facies, epicanthic folds, hypotonia, and simian crease in hands) purpuric spots were present all over the body and mild pallor was also noticed. Liver was just palpable and spleen 3 cm below costal margin. No lymph nodes were palpable. A clinical diagnosis of Down syndrome was made. Peripheral smear revealed normocytic normochromic RBC morphology with slight macrocytosis. Total white cell count was 97000/cmm with blasts 78%, myelocytes (09%) metamyelocytes (04%) and promyelocytes (03%) Platelets were reduced (62000/ul) Bone marrow aspiration was done from tibia which showed markedly hypercellular smears and fragments. Myeloblasts were 85%, mostly with low N/C ratio and fine chromatin pattern with prominent nucleoli. Majority of blast cells were positive for Sudan black B staining. Some of them also had cytoplasmic granules. Maturing cells of myeloid series such as promyelocytes and myelocytes were also present.The case was labeled as Acute Myeloid leukaemia (AML Ml). Cytogenetic studies and serial blood counts were suggested. The baby was shifted subsequently to Pakistan Institute of Medical Sciences oncology department for further management.

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