RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164068121
T1 Dionisi Vici Sabetta Gambarara Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164068121
RD 2024/04/17
AB It  is  a  rare  congenital  multisystem  disorder  characterized  by  the  presence  of  agenesis  of  the  corpus  callosum,  severe  developmental  delay,  immunodeficiency,  cleft  lip/palate,  cataract,  hypopigmentation,  and  progressive  cardiomyopathy.  Affected  individuals  also  have  profound  psychomotor  retardation  and  hypotonia  due  to  a  myopathy.  Vici  Syndrome  is  the  most  typical  example  of  a  novel  group  of  inherited  neurometabolic  conditions  classified  as  congenital  disorders  of  autophagy.  Life  expectancy  is  markedly  reduced  and  usually  death  occurs  before  the  age  of  3  years  due  to  cardiac  failure  or  severe  infection.