LAUSR

To the Editors: L -2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive genetic disease. Clinically, it shows progressive psychomotor developmental delay and cerebral symptoms. Macrocephaly is a finding that must alert the clinicians to the possibility of a cerebral organic aciduria. Brain magnetic resonance imaging (MRI) can assist in diagnosing subcortical white matter, basal ganglion, and dentate nuclei involvement despite deep white matter protection. Diagnosis is via elevated L-2-hydroxyglutaric acid in blood, urine, and cerebrospinal fluid gas chromatography. An 11-year-old boy presented with confusion and fever, which were accompanied by malaise, loss of appetite, nausea, vomiting, neck ache, and headache for a few days. He was disoriented, and his physical examination revealedmacrocephaly, nuchal rigidity, positiveKernig-Brudzinski signs, cerebellar dysfunction, and mild mental retardation. Consequently, the patient was isolated and underwent a lumbar puncture, and ceftriaxone (100 mg/kg/d) and acyclovir (500 mg/m every 5 hours) treatments were started. In the laboratory analysis, marked leukocytosis (20000 cells/mm) and elevated C-reactive protein (45 mg/L) levels were present. The renal and liver function tests and electrolyte levels were within the reference ranges. The cerebrospinal fluid analysis revealed a cloudy aspect with 250 white blood cells/mm (90%