Glutaric aciduria type I: a serious pitfall if diagnosed too late
| Autor: | Klaus Hahn, A. Muntau, S. Weil, U. F. Willemsen, Thomas Pfluger |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Oxidoreductases Acting on CH-CH Group Donors Pathology medicine.medical_specialty Encephalopathy Genes Recessive Diagnosis Differential Glutarates Atrophy Basal ganglia medicine Humans Radiology Nuclear Medicine and imaging Neuroradiology Glutaryl-CoA Dehydrogenase business.industry Glutaric aciduria Macrocephaly Brain General Medicine medicine.disease Magnetic Resonance Imaging Hydrocephalus Child Preschool Brain Damage Chronic Female sense organs medicine.symptom Differential diagnosis Oxidoreductases Tomography X-Ray Computed business Metabolism Inborn Errors |
| Zdroj: | European Radiology. 7:1264-1266 |
| ISSN: | 1432-1084 0938-7994 |
| DOI: | 10.1007/s003300050287 |
| Popis: | We report the MR imaging findings in two children with glutaric aciduria type I (GA I). It is important to consider this disorder in the differential diagnosis in a child presenting with an unclear hydrocephalus or atrophy. The imaging findings consist of basal ganglia changes, frontotemporal atrophy, and retarded myelination. A definite diagnosis with an urine test and a dietary treatment can avoid encephalopathy with irreversible changes. |
| Databáze: | OpenAIRE |
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