Open AccessGaucher's Disease- A case report
Author(s) -
Asm Ruhul Quddush,
Md Kamruzzaman,
Badruzzaman,
Mirja Hamidul Haque,
Nazli Ansari,
Shamima Sattar,
Shabiha Parvin,
Faria Sultana
Publication year - 2014
Publication title -
community based medical journal
Language(s) - English
Resource type - Journals
eISSN - 2408-848X
pISSN - 2226-9290
DOI - 10.3329/cbmj.v3i2.53404
Subject(s) - hepatosplenomegaly , medicine , gaucher's disease , abdominal distension , enzyme replacement therapy , bone marrow , disease , pediatrics , physical examination , abnormality , neuropathic pain , pathology , surgery , anesthesia , psychiatry
A 3 years old immunized girl of consanguineous parents presented abdominal distension with hepatosplenomegaly. She was moderately anemic, moderately wasted and stunted. Neurological examination was normal. Musculoskeletal system examination revealed no abnormality. Diagnosis was supported by typical bone involvement in X-ray film (thin cortex in limb bone) and gaucher cell in the bone marrow and also in the splenic aspiration. There are three subtypes Type1: Non neuropathic form, Type 2: Acute neuropathic form, Type 3: Chronic neuropathic form. However some cases do not fit precisely into one of these categories. All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease type 1. Treatment option for type 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective.
CBMJ 2014 July: Vol. 03 No. 02 P: 45-48