Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease

Excerpt

A 2-month-old male child, presented with 1 month history of pallor and poor weight gain. On physical examination, there was pallor, and moderate hepatosplenomegaly (liver 6 cm and spleen 4 cm palpable below the costal margin). Hemogram showed Hb of 50 gm/L, WBC count of 7.8 × 10⁹/L, platelet count of 53 × 10⁹/L. Liver function tests were deranged with total bilirubin of 4.88 mg/dl, AST 298 IU/L and ALT of 158 IU/L. He had prolonged PT (> 180 s) and APTT (> 180 s) and low fibrinogen level of 108 mg/dl. Serum triglycerides were 392 mg/dl and ferritin was markedly elevated at 8460 ng/ml. In view of above findings, a diagnosis of Hemophagocytic Lymphohistiocytosis (HLH) was suspected. Bone marrow examination revealed infiltration with macrophages which showed eccentric nuclei and vacuolated cytoplasm (Fig. 1), highly suggestive of lipid storage disorder. Evidence of phagocytosis of erythroid precursor cells and lymphocytes by histiocytes was also seen (Fig. 2). Enzyme studies for Gaucher and Niemann-Pick disease were normal. The patient succumbed to progressive liver failure within 10 days of admission. Next generation sequencing from patient’s stored DNA revealed a pathogenic homozygous mutation c.193C > T(p.Arg65Ter) in exon 3 of LIPA gene leading to the diagnosis of Wolman disease (WD).

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