HISTORY: A 3 month old male child was brought to the hospital with failure to thrive and refusal of feeds. On examination he had massive hepato-splenomegaly. Otherwise there seemed no obvious neurological impairment. Complete blood counts revealed Hb 6 gm/dl, WBC of 13,200/cmm with a mild neutrophilic shift to the left and Platelet count of 55,000/cm.

The images correspond to peripheral blood smear (Fig 1), Bone marrow aspirate( Fig 2) and a plain X-Ray abdomen ( Fig 3).

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Associate Professor of Pathology, JIPMER, Pondicherry, India

Answer : Wolman's Disease

Responses: Total 16
Niemann Pick Disease - 8
Lipid Storage disorder - 2
Gaucher Disease - 1
Mucopolysaccaridosis/ Mucolipidosis - 1
Letterer Siwe disease - 1
Acute Lymphoblastic leukemia - 1
Plasmodium falciparum infection with bone marrow involvement - 1
No diagnosis - 1

Discussion:

Wolman's Disease is a rare lipidosis that affects infants and is ususally fatal by the first year of life. It is an autosomal recessive disorder due to lysosomal acid lipase deficiency and results in cholesterol and triglyceride accumulation in many organs. It was first reported in 1956 and infants present with anemia, gross hepatosplenomegaly and progressive mental deterioration.

Peripheral blood shows many vacuolated lymphocytes. Bone marrow, liver, spleen and other organs also are infiltrated by foamy macrophages. The foamy macrophages resemble those seen in Niemann Pick disease. The characteristic and pathognomonic feature of this disorder is bilateral dense and punctate calcification of enlarged adrenals, this can be picked up on XRay of abdomen.

Wolman's Disease should be considered in the differential diagnosis of infants presenting with hepatosplenomegaly, failure to thrive and showing foamy macrophages in the bone marrow. Another variant of this disorder is Cholesteryl ester storage disorder, which is more benign and doesn't show gross calcification of adrenal glands.

The case was presented because of its rarity and also because it resembles the more well known Niemann Pick disease morphologically.