A rare cause of abdominal pain: massive splenomegaly and hypersplenism due to  Niemann-Pick type-B: Karın ağrısının nadir bir nedeni: Niemann-Pick tip-B  zemininde masif splenomegali ve hipersplenizm

Zülfü Arıkanoğlu; Fatih Taşkesen; İbrahim Aliosmanoğlu; Mesut Gül; Uğur  Fırat; Enver Ay

doi:10.5455/GMJ-30-2012-80

Authors

Zülfü Arıkanoğlu Dicle Üniversitesi, Tıp Fakültesi, Genel Cerrahi Anabilim Dalı, Diyarbakır
Fatih Taşkesen Dicle Üniversitesi, Tıp Fakültesi, Genel Cerrahi Anabilim Dalı, Diyarbakır
İbrahim Aliosmanoğlu Dicle Üniversitesi, Tıp Fakültesi, Genel Cerrahi Anabilim Dalı, Diyarbakır
Mesut Gül Dicle Üniversitesi, Tıp Fakültesi, Genel Cerrahi Anabilim Dalı, Diyarbakır
Uğur Fırat Dicle Üniversitesi, Tıp Fakültesi, Patoloji Anabilim Dalı, Diyarbakır
Enver Ay Dicle Üniversitesi, Tıp Fakültesi, Genel Cerrahi Anabilim Dalı, Diyarbakır

DOI:

https://doi.org/10.5455/GMJ-30-2012-80

Keywords:

Hypersplenism, Niemann-Pick disease, massive splenomegaly

Abstract

Niemann-Pick disease is a recessive, autosomal hereditary lysosomal storage disease. Six types of the disease have been identified (NPD types A, B, C, D, E, and F). Clinic of the patient varies depending on the organ in which sphingomyelin accumulates. The diagnosis is generally made during routine diagnostic tests performed in childhood while examining the etiology of hepatosplenomegaly. Supportive treatment is the mostly preferred treatment. However, splenectomy can be performed because of the risk of rupture if hypersplenism and massive splenomegaly develops. In the present article, a 16-year-old male patient with massive splenomegaly and hypersplenism diagnosed with Niemann-Pick disease type-B in childhood is presented due to the fact that it is a rare disease.

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