Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/pathology , Child, Preschool , Female , Glutarates/urine , Glutaryl-CoA Dehydrogenase/metabolism , Humans , Infant , Magnetic Resonance Imaging , Male , Monitoring, Physiologic , Prognosis , Severity of Illness IndexABSTRACT
The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings. Axial T1-weighted magnetic resonance imaging scan of the brain showed fronto-temporal atrophy, open opercula and bat-wing dilatation of the sylvian fissures. Axial T[2]-weighted and FLAIR imaging showed hyperintense signal abnormality in both putamen and in the fronto-parietal deep white matter. Urinary aminoacidogram by thin layer chromatography revealed a generalized aminoaciduria. Urinary organic acid analysis by gas chromatography- mass spectroscopy revealed a marked excretion of glutaric acid. Psychoeducational testing was used to diagnose the learning disability. We postulate that the accumulation of glutaric acid and other metabolites was responsible for the child developing the associated learning disability.
Subject(s)
Brain/pathology , Brain Diseases, Metabolic, Inborn/complications , Child , Glutarates/urine , Humans , Learning Disabilities/complications , Magnetic Resonance Imaging , MaleSubject(s)
Child, Preschool , Female , Glutarates/urine , Humans , Infant , Magnetic Resonance Imaging , Male , Metabolism, Inborn Errors/diagnosisABSTRACT
Estudamos seis pacientes com acidúria glutárica tipo I, em quatro famílias. Observamos variaçoes intensas na apresentaçao clínica, mesmo entre elementos da mesma família. Três pacientes evoluiram sem alteraçoes até o início das anomalias neurológicas, que se manifestaram como encefalite-símile, no primeiro ano de vida. Uma criança apresentou atraso precoce do desenvolvimento, sem episódios agudos de descompensaçao. Dois pacientes nao têm alteraçao cognitiva; um deles apresenta leve tremor associado a quadro coreoatetóide desde o primeiro ano de vida, enquanto o outro teve apenas duas crises convulsivas afebris quando lactente. Três crianças apresentam distonia como sequela, nao sendo capazes de sentar ou firmar a cabeça. Os seis pacientes apresentam macrocrania e a neles tomografia computadorizada de crânio demonstra aumento dos espaços liquóricos em regioes fronto-temporais. O estudo dos ácidos orgânicos urinários dos pacientes demonstra elevaçao dos níveis do ácido glutárico.