Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II).

Abstract:

:Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

journal_name

Cardiol Young

journal_title

Cardiology in the young

authors

Prasanna P,Sriram CS,Rodriguez SH,Kohli U

doi

10.1017/S1047951120004953

subject

Has Abstract

pub_date

2021-01-28 00:00:00

pages

1-3

eissn

1047-9511

issn

1467-1107

pii

S1047951120004953

pub_type

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