Gaucher disease

ةيداع ريغ ةيريرس تاملاع نم يناعي تاونس 8 هرمع يبص انفصو نم ضرم وه "رشوج" ضرم .ةرمدم جئاتن عم رشوج ضرم نم صقن نع جتنيو ةنمزلما ةيموزوزيللا نيزختلا تابارطضا ضارمأ رهاظبم "رشوج" ضرم زيمتي "زيديسوربيريسوكولج" يمزنأ يف .يعانلما زاهلجا رثأت ىلع يوطنت ام اًبلاغ نكلو ةفلتخم ةيريرس ساسأ ىلع "رشوج" ضرلم ةزيمتم ةيعرف عاونأ 3 تفصو دقل صيخشت متيو .يبصعلا زاهلجا رثأت ضارعأ بايغ وأ دوجو روتح ةسارد ،طاشنلا صحف يمزنأ :للاخ نم رشوج ضرم دقو ةددعتم ىرخأ تارابتخا ىلإ ةفاضلإاب مظعلا عاخن ،تانيلجا لمشتو .رشوج ضرم تلااح صيخشت يف حاجنب تمدختسا جلاعلا نم دلح ةزيكرلا ،)ERT( لادبتسا جلاع يمزنا جلاعلا قرط قئارط يه ةحارلجاو مدلا لقنو ،)BMT( عاخنلا عرز ،)SRT( .رشوج ضرلم ةرفاوتلما ةرادلإا We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties. Neurosciences 2015; Vol. 20 (3): 271-276 doi: 10.17712/nsj.2015.3.20140622 Case Reports G disease (GD) was initially described by Philippe Gaucher more than 2 centuries ago, in his doctoral thesis in 1882, when he hypothesized that infiltration of enlarged cells in a spleen represented a “neoplasm.” The biochemical basis for GD was elaborated 83 years later (1965) by Roscoe Brady’s group at the National Institutes of Health. The molecular basis of the disease was elucidated in the late 1980s, when the glucocerebrosidase gene mutations were identified.1 Gaucher disease is characterized by a range of phenotypes, from a perinatal lethal form to an asymptomatic form; however, 3 distinct clinical types have been recognized based on the disease progression and the presence or absence of neurologic involvement.2 Unusual presentation should not be overlooked in this potentially treatable disease, as it may have a positive impact on the disease prognosis and quality of life in the patient.3 Gaucher disease can be diagnosed through enzyme activity assay (EAA), molecular diagnosis, bone marrow aspiration (BMA), and other tests.4,5 Treatment modalities for GD include enzyme replacement treatment (ERT), substrate reduction therapy (SRT), bone marrow transplantation, surgery, and blood transfusion in selected cases.6,7 We aim to describe an 8-year-old boy from consanguineous parents; he had a history of recurrent pyrexia of unknown origin, with equivocal investigations. Raising awareness of early diagnosis of such cases and consideration of unusual presentations of rare diseases can have a positive impact OPEN ACCESS 271 Neurosciences 2015; Vol. 20 (3) www.neurosciencesjournal.org From the Department of Pediatrics and Pediatric Neurology, Al-Takhassusi Hospital, Dr. Sulaiman Al-Habib Medical Group, Riyadh, Kingdom of Saudi Arabia. Received 12th October 2014. Accepted 23rd March 2015. Address correspondence and reprint request to: Dr. Tamer Rizk, Department of Pediatrics and Pediatric Neurology, Al-Takhassusi Hospital, Dr. Sulaiman Al-Habib Medical Group, Riyadh, Kingdom of Saudi Arabia. E-mail: [email protected]