Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. We diagnosed arginase deficiency in a three-year-old male child of first-cousin Palestinian Arab parents. Prenatal diagnosis of an unaffected fetus was achieved in the second trimester of a subsequent pregnancy by cordocentesis and analysis of arginase activity in fetal erythrocytes.

Overuse of EEG in the evaluation of common neurologic conditions.

The objective of the present study was to analyze the diagnostic indications that most often prompt the referral of children and adolescents in the outpatient clinical pediatric practice for electroencephalographic evaluation and to check its utility in these clinical conditions. The electroencephalographic records of 547 consecutive children and adolescents (5-16 years of age) referred to a single community laboratory for the evaluation of various neurologic disorders were prospectively read by a single blinded investigator. Common diagnostic indications included the following: clinical seizures (42%), attention-deficit-hyperactivity disorder (23%), headaches (10.