title: Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
abstract: Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.
authors.affiliation: 1Pediatric Endocrinology Division,Pediatrics Clinic,Adana Numune Training and Research Hospital,Adana,Turkey.
authors.forename: Yılmaz
authors.initials: Y
authors.lastname: Kör
authors.affiliation: 2Department of Pediatric Endocrinology, Faculty of Medicine,Gaziantep University,Gaziantep,Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Keskin
authors.affiliation: 3Department of Pediatric Cardiology, Faculty of Medicine,Gaziantep University,Gaziantep,Turkey.
authors.forename: Osman
authors.initials: O
authors.lastname: Başpınar
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000209:etiology*; D002114:Calcinosis / Q000209:etiology* / Q000473:pathology; D006328:Cardiac Catheterization; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics; D006321:Heart / Q000503:physiopathology*; D006349:Heart Valve Diseases / Q000209:etiology*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D013575:Syncope / Q000209:etiology
chemical_list: D005962:Glucosylceramidase
keywords: Gaucher disease; apraxia; heart valve diseases; syncope