Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.
J Inherit Metab Dis
; 32 Suppl 1: S107-10, 2009 Dec.
Article
em En
| MEDLINE
| ID: mdl-19267217
ABSTRACT
Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lysosomes. This, and other possible pathogenetic mechanisms to explain the link are discussed.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Linfo-Histiocitose Hemofagocítica
/
Doença de Gaucher
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article