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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)

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.

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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: dykor05@yahoo.com

References

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1. Grabowski, GA, Petsko, GA, Kolodyn, EH. Lysosomal disorders: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM, Mitchell G (eds). The Metabolic & Molecular Bases of Inherited Diseases, 8th edn. McGraw-Hill, New York, 2001: 36353668.
2. Chabás, A, Cormand, B, Grinberg, D, et al. Unusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet 1995; 32: 740742.
3. Cogan, DG, Chu, FC, Reingold, D, Barranger, J. Ocular motor signs in some metabolic diseases. Arch Ophthalmol 1981; 99: 18021808.
4. Bohlega, S, Kambouris, M, Shahid, M, Al Homsi, M, Al Sous, W. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology 2000; 54: 261263.
5. Aabha, N. Gaucher disease. J Clin Exp Hepatol 2014; 4: 3750.
6. Horowitz, M, Zimran, A. Genotype-phenotype correlation in Gaucher disease. In: Humphries SE, Malcolm S (eds). From Genotype to Phenotype. BIOS Scientific Publishers, Oxford, 1994: 6781.

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