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Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature

  • Yılmaz Kör (a1), Mehmet Keskin (a2) and Osman Başpınar (a3)


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.


Corresponding author

Correspondence to: Y. Kör, Adana Numune Eğitim Araştırma Hastanesi, Çocuk Endokrinoloji Bölümü, Adana, Turkey. Tel: +90 322 3550101; Fax: +90 322 3550028; E-mail:


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