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Clinical Quiz

Sergio, Facchini*; Bruno, Bembi; Zennaro, Floriana; Cristina, Martini; Alessandro, Ventura*

Journal of Pediatric Gastroenterology and Nutrition: May 2004 - Volume 38 - Issue 5 - p 533
Clinical Quiz

*Clinica Pediatrica, †Centro di Malattie Metaboliche, and ‡Dipartimento di Radiologia, IRCCS “Burlo Garofolo,” Università di Trieste, Italy

A 4-year-old boy was seen for the first time in our unit for growth failure. His weight was 13.5 kg (3% ile). He had a mild normochromic anemia wigh a hemoglobin concentration of 10.5 g/dL. He had been experiencing low grade fevers. Results of physical examination were unremarkable. Laboratory investigations showed only an elevated erythrocyte sedimentation rate of 50 mm/hour. Chest x-ray showed a miliary infiltrate suggestive of tuberculosis (Fig. 1). Although result of the Mantoux test was negative, a regimen of antitubercular therapy with isoniazide, rifampin and streptomycin was started. The fever subsided and the chest x-ray improved. The antitubercular therapy was continued for 12 months. After 10 years of good health, the child returned to our unit for weight loss. At that time he weighed 33.5 kg (≪ 3% ile). He complained of abdominal pain and loose stools. The child was wasted and had hepatosplenomegaly on physical examination. Laboratory investigations suggested intestinal malabsorption with a serum iron of 46 μg/dL and evidence of xylose malabsorption (urinary excretion 7%). His serum albumin concentration was 1.89 g/dL. The aspartate aminotransferase level was 75 IU/L and the alanine aminotransferase level was 67 IU/L. The serum cholesterol was normal (190 mg/dL) as was the serum triglyceride level (192 mg/dL). We also performed a chest x-ray and a small bowel biopsy (Fig. 2 shows a high magnification of a villous).

FIG. 1.

FIG. 1.

FIG. 2.

FIG. 2.

Question: Which is the correct diagnosis?

1) Celiac disease

2) Miliary tuberculosis

3) Metastasized intestinal lymphoma

4) Niemann-Pick disease type B

5) Abetalipoproteinemia

6) Whipple disease

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The intestinal biopsy showed foam cells in the lamina propria but normal villous-crypt morphology. Both bone marrow aspirate and liver biopsy contained numerous foam cells. The chest x-ray showed a diffuse finely nodular infiltration similar to that observed at 4 years of age. The ocular fundoscopic examination revealed cherry red macules. The sphingomyelinase activity level in peripheral leukocytes was abnormally low (0.53 × 107/cells/hour). Thus, the correct diagnosis is Niemann-Pick disease type B.

Niemann-Pick disease is an autosomal recessive disease characterized by a defect in the lysosomial enzyme sphingomyelinase. The enzymatic defect produces an abnormal accumulation of sphingomyeline in the monocyte-macrophage system. The clinical presentation of the disease typically is hepatosplenomegaly, and the B type can show evidence of diffuse nodular infiltration of the lungs similar to miliary tuberculosis. In our case, a clinical picture of intestinal malabsorption was the first symptom of the disease but was unrecognized. This gastrointestinal manifestation has been rarely described in the literature (1). The diagnosis is based on the characteristic finding of Niemann-Pick cells in the bone marrow aspirates and on the sphingomyelinase activity levels in peripheral leuckocytes. An enzyme replacement therapy, currently undergoing testing, could be soon available for patients with this disease.

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1. Dinari G, Rosenbach Y, Grunebau M, et al. Gastrointestinal manifestation of Niemann-Pick disease. Enzyme 1980;25(6):407—12.
© 2004 Lippincott Williams & Wilkins, Inc.