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

Published online by Cambridge University Press:  10 April 2017

Yılmaz Kör
Affiliation:
Pediatric Endocrinology Division, Pediatrics Clinic, Adana Numune Training and Research Hospital, Adana, Turkey
Mehmet Keskin
Affiliation:
Department of Pediatric Endocrinology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Osman Başpınar
Affiliation:
Department of Pediatric Cardiology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Corresponding
E-mail address:

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.

Type
Brief Report
Copyright
© Cambridge University Press 2017 

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References

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.Google Scholar
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.CrossRefGoogle Scholar
3. Cogan, DG, Chu, FC, Reingold, D, Barranger, J. Ocular motor signs in some metabolic diseases. Arch Ophthalmol 1981; 99: 18021808.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
5. Aabha, N. Gaucher disease. J Clin Exp Hepatol 2014; 4: 3750.Google Scholar
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.Google Scholar

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