A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings
Yükleniyor...
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe macrovesicular steatosis were also found in the liver. The fatal course of the patient may have resulted from diffuse lipid accumulation in the liver and myocardium, which probably began during the intrauterine life with slight hypoalbuminemia as a silent marker of this process.
Açıklama
42nd Annual Symposium of the SSIEM -- SEP, 2005 -- Anaheim, FRANCE
Dursun, Ali/0000-0003-1104-9902
Dursun, Ali/0000-0003-1104-9902
Anahtar Kelimeler
cardiomyopathy, hepatopathy, hypoketotic hypoglycemia, newborn, VLCAD deficiency
Kaynak
European Journal Of Pediatrics
WoS Q DeÄŸeri
Q2
Scopus Q DeÄŸeri
Q1
Cilt
166
Sayı
10
Künye
closedAccess
