ISSN 1308-8734 | E-ISSN 1308-8742
Case Report
Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease
1 Atatürk Üniversitesi, Tıp Fakültesi, Gastroenteroloji Bilim Dalı, Erzurum  
2 Atatürk Üniversitesi, Tıp Fakültesi, Iç Hastalıkları Anabilim Dalı, Erzurum  
3 Atatürk Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Erzurum  
4 Atatürk Üniversitesi, Tıp Fakültesi, Patoloji Anabilim Dalı, Erzurum  
5 Atatürk Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı, Erzurum  
Eurasian J Med 2007; 39: 69-71

Key Words: Niemann-Pick disease, Sea blue histiocytosis, Hepatosplenomegaly
Abstract

We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms. Her bone marrow was shown to be infiltrated with sea blue histiocytes. The patient underwent esophagogastroduodenoscopy which revealed grade II–III non-bleeding esophageal varices in the distal esophagus. Enzyme assay of leucocytes demonstrated deficiency of sphingomyelinase activity. It revealed that our patient had chronic Niemann-Pick disease without neurological but liver and pulmonary involvement, with the findings of sea blue histiocytosis.

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