title: Gaucher's disease: report of 11 cases with review of literature.
abstract: Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology gastroenterology and nutrition of Rabat children's Hospital. We observed 11 patients with GD: 6 males and 5 females. Age at onset ranged from 3 months to 10 years with an average of 3.41 years. Mean age at diagnosis was 4 years (range 3 months-14 years). Parental consanguinity was noted in 85% cases. According to the clinical presentation, we classified our patients into: 9 cases of type 1 (81%) and two cases of type 2 (19%), none of the patients presented GD type 3. GD type 1: The age at diagnosis ranged from 2 years to 14 year with an average of 6 years. Main symptoms were: splenomegaly, hepatomegaly, pallor, haemorrhagic appearance (40%), bone pain (40%). The diagnosis was based on histology showing the Gaucher's cells in various tissues (100%). Enzymatic activity dosage confirmed the diagnosis of GD for 4 patients (44.5%). The treatment was always symptomatic (analgesics, transfusion). A splenectomy was performed in one case presenting with multiple splenic abscesses and high transfusion requirements. None of the patients received a specific treatment (substitutive enzymotherapy). The follow-up period ranged from 3 months to 6 years with an average follow-up of 4 years. We noticed stability in 4 cases, 2 worsening cases with bone and spleen complications. Three patients were lost to follow-up. GD type 2: we observed two cases of GD type 2 diagnosed at 3 and 18 months. The visceral symptoms were serious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher's disease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosis was delayed and the enzymatic dosage was performed in only 42% of the cases as well as therapeutic difficulty with no prescription of the specific treatment given the high cost of the enzyme.
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition - P III, Rabat Children's Hospital, Morocco.
authors.forename: Laila
authors.initials: L
authors.lastname: Essabar
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition - P III, Rabat Children's Hospital, Morocco.
authors.forename: Toufik
authors.initials: T
authors.lastname: Meskini
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Anatomo-Pathology, Rabat Children's Hospital.
authors.forename: Najat
authors.initials: N
authors.lastname: Lamalmi
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition - P III, Rabat Children's Hospital, Morocco.
authors.forename: Said
authors.initials: S
authors.lastname: Ettair
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition - P III, Rabat Children's Hospital, Morocco.
authors.forename: Naima
authors.initials: N
authors.lastname: Erreimi
authors.affiliation: FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition - P III, Rabat Children's Hospital, Morocco.
authors.forename: Nezha
authors.initials: N
authors.lastname: Mouane
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000473:pathology / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies
keywords: Gaucher Disease; children; enzymatic dosage; hepatosplenomegaly; splenectomy