title: Gaucher disease.
abstract: A 14 months old boy of consanguineous parent presented with hepatosplenomegaly with delayed mile stones of development. He is till unable to walk. He was moderately anemic. Moderately wasted and stunted. Neurological examination was normal except subnormal intelligence. This subnormal intelligence and delayed milestone possibly may be due to secondary effect of growth retardation. Musculo-skeletal 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 splenic aspiration. There are three sub-types Type I: Non neuropathic form. Type II: Acute neuropathic form. Type III: 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 I. Treatment option for type I and III include medicine and enzyme replacement therapy, which is usually very effective.
authors.affiliation: Department of Neonatology, Mymensingh Medical College, Bangladesh.
authors.forename: M A
authors.initials: MA
authors.lastname: Ali
authors.forename: F M
authors.initials: FM
authors.lastname: Saleh
authors.forename: K
authors.initials: K
authors.lastname: Das
authors.forename: T
authors.initials: T
authors.lastname: Latif
mesh_terms: D003937:Diagnosis, Differential; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male