The US FDA approved Imiglucerase alfa (Genzyme Corporation, Oxford, Oxfordshire, UK) in May 1994 for long-term ERT for pediatric and adult patients with a confirmed diagnosis of Type 1 GD,6,7 and Velaglucerase alpha (Shire Human Genetic Therapies, Inc, Basingstoke, Hampshire, England) in February 2010 for the long term treatment of type 1 GD in both the pediatric and adult population and recently Taliglucerase alfa (Pfizer Inc, New York, NY, USA and Protalix Bio Therapeutic Inc. 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 Bradys 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 assessments.4,5 Treatment modalities for GD include enzyme replacement treatment HSPA1 (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 young man from consanguineous parents; he had a history of recurrent pyrexia of unknown origin, with equivocal Refametinib (RDEA-119, BAY 86-9766) investigations. Raising awareness of early diagnosis of such cases and concern of unusual presentations of rare diseases can have a positive impact on the progress and long-term management of such cases. Case Report An Refametinib (RDEA-119, BAY 86-9766) 8-year-old male was referred from a local Refametinib (RDEA-119, BAY 86-9766) hospital as a case of meningitis with preceding history of subarachnoid hemorrhage, for which he was previously admitted to the Pediatric Intensive Care Unit (PICU) of the same hospital just prior to his current admission with headache, projectile vomiting, and fever for 2 days. Six months prior to presentation, he had an episode of sudden onset of optic neuritis, which was treated successfully with oral steroids. He had a history of multiple prolonged hospital admissions as a case of pyrexia of unknown origin, without reaching a clear diagnosis. He was previously diagnosed to have alopecia areata at the age of 5 years. Initial assessment upon admission revealed an 8-year-old young man who looked unwell, febrile with a heat of 39.1C, pale, not distressed, awake, alert, and conscious without any signs of meningeal irritation. Neurological assessment revealed left-sided hemiparesis. A systemic review revealed distended stomach with hepatosplenomegaly, and a localized area of alopecia areata approximately 2 2 cm in the occipital area. Broad-spectrum parenteral antibiotics and acyclovir were continued according to the plan from the referring hospital. A few hours following admission, he started to complain of severe abdominal pain, persistent fever despite receiving regular analgesics and antipyretics. Initial labs showed normal aspartate aminotransferase (AST), alanine aminotransferase (ALT) with high gamma-glutamyl transferase, high c-reactive protein (CRP), low hemoglobin (HB), low serum iron level with normal unsaturated iron binding capacity (UIBC), and normal HB electrophoresis. In view of the presence of alopecia areata, hepatosplenomegaly, and anemia, the concept of connective tissue disease was raised, which became a remote possibility after the results of antinuclear antibodies (ANA), anti DNA double stranded antibodies, anti cardiolipin immunoglobulin M (IgM), anti cardiolipin (IgG), anti-Sj?grens-syndrome-related antigen A, anti-Sj?grens-syndrome-related antigen B came back negative. Stroke work up including, protein C activity, protein S activity, prothrombin time (PT), international normalized ratio (INR), partial prothrombin time (PTT), anti thrombin III (activity), factor V activity were all normal, with absent prothrombin G20210A mutation. Echocardiography was within normal limits. His laboratory.
