TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

Autor:	Violeta Streanga, Cristina Jitareanu, Irina M. Ciomaga, Doina Mihaila, Nicolai Nistor
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	lysosomal storage disorder type 2 gaucher disease neurological manifestations hepatosplenomegaly glucocerebrosidase activity Medicine Pediatrics RJ1-570
Zdroj:	Romanian Journal of Pediatrics, Vol 64, Iss 3, Pp 293-296 (2015)
Druh dokumentu:	article
ISSN:	1454-0398 2069-6175
DOI:	10.37897/RJP.2015.3.12
Popis:	Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant found at 5 months of age with neurological symptoms and his subsequent evolution with massive hepatosplenomegaly, being diagnosed with type 2 Gaucher disease.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/dc798be9fa014397b2045edf1eba7c85 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF