TY - JOUR
T1 - A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings
AU - Aliefendioğlu, Didem
AU - Dursun, Ali
AU - Coşkun, Turgay
AU - Akçören, Zuhal
AU - Wanders, Ronald J. A.
AU - Waterham, Hans R.
PY - 2007
Y1 - 2007
N2 - 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
AB - 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
U2 - https://doi.org/10.1007/s00431-006-0350-6
DO - https://doi.org/10.1007/s00431-006-0350-6
M3 - Article
C2 - 17206456
SN - 0340-6199
VL - 166
SP - 1077
EP - 1080
JO - European journal of pediatrics
JF - European journal of pediatrics
IS - 10
ER -