A 3-MONTH-OLD BOY was seen for pallor and oily stools. Findings revealed a hemoglobin level of 46 g/L; platelet count, 442 × 109/L; and total lymphocyte count (TLC), 4.6 × 109/L with polymorphs at 0.26 × 109/L; lymphocytes, 0.72 × 109/L; and monocytes, 0.02 × 109/L. Moderate anisocytosis, mild poikilocytosis, hypochromia, microcytes, macrocytes, and teardrop and crenated cells were seen on peripheral blood film. Stool fat estimation at age 5 months was 14.75 g in a 3-day collection. Results of a sweat chloride test were normal. He was treated with oral iron and folic acid preparations and pancreatic enzymes and given 1 blood transfusion; his hemoglobin level improved initially (91 g/L). The TLC and absolute neutrophil count decreased, and at age 5 months the TLC was 1.8 × 109/L with an absolute neutrophil count of 0.36 × 109/L. The child had repeated infections with loose oily stools and diarrhea for 2 years and 9 months. He developed septic shock and died at age 3 years, at which time hemoglobin levels were 82 g/L with decreased platelet count, and the TLC was 1 × 109/L. A blood culture grew Pseudomonas aeruginosa. Cut section of the pancreas revealed loss of normal pancreatic architecture (Figure 1). Microscopy shows the bulk of the pancreatic tissue replaced by fatty tissue (Figure 2). Pancreatic ducts are preserved, and islets of Langerhans are relatively prominent and composed of large cells (Figure 3). Atrophic and shrunken acinar tissue is seen with cells having a pink cytoplasm and pyknotic nuclei (Figure 4). A section of bone marrow showed maturation arrest of the myeloid series of cells with normal erythroid and megakaryocytic series.
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