Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia

The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the Formosan Medical Association 2014-11, Vol.113 (11), p.857-861
Main Authors: Su, Pen-Hua, Chen, Jia-Yuh, Chen, Yung-Jung, Niu, Dau-Ming, Hsu, Ju-Hui, Lee, Inn-Chi
Format: Article
Language:English
Subjects:
Argininosuccinate Synthase - genetics
Blood Transfusion
citrullinemia
Citrullinemia - diagnosis
Citrullinemia - therapy
Electroencephalography
Female
Humans
Hyperammonemia - diagnosis
Hyperammonemia - therapy
Infant, Newborn
Internal Medicine
Mutation
transcranial Doppler ultrasonography
Ultrasonography, Doppler, Transcranial
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in the blood and cerebrospinal fluid; electroencephalography showed severely suppressed cerebral activity and focal paroxysmal volleys of slow and sharp waves (< 1 Hz) over the left hemisphere. Real-time transcranial Doppler ultrasonography showed a brain edema and high peaked systolic and low diastolic flows in basal, anterior, and middle cerebral arteries; however, immediately after a blood exchange transfusion, systolic flows were lower and diastolic flows were higher. The resistance indices were significantly different (means: 0.58 vs. 0.37; p = 0.01). The patient was placed on diet therapy. After six blood exchange transfusions and peritoneal dialysis, her neurologic examination results and serum ammonia and lactate values were normal. The authors found that electroencephalography and transcranial Doppler ultrasonography were useful for the diagnosis and follow-up treatment of neonatal citrullinemia.
ISSN:0929-6646
DOI:10.1016/j.jfma.2010.12.004