The varied clinical and laboratory manifestations of Type II Gaucher's disease

Y. Laks, J. Passwell

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

An infant of Arab extraction with the Type II form of Gaucher's disease is described. His clinical presentation was unusual because in addition to the extensive neurological involvement and marked hepatosplenomegaly a severe congestive cardiomyopathy and renal tubular dysfunction were present. In addition, marked hypergammaglobulinemia and raised serum angiotensin converting enzyme levels were found. It is suggested that these varied manifestations may be ascribed to the consequences of glucocerebroside deposition within the macrophages of the reticuloendothelial system.

Original languageEnglish
Pages (from-to)378-380
Number of pages3
JournalActa Paediatrica Scandinavica
Volume76
Issue number2
DOIs
StatePublished - 1987
Externally publishedYes

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