Galactosemia: evaluation with MR imaging
| Autor: | C A Cross, G N Donnell, Marvin D. Nelson, J A Wolff, F R Kaufman |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Galactosemias medicine.medical_specialty Pathology Adolescent Racemases and Epimerases Diagnosis Differential White matter Myelin Transferases medicine Humans Radiology Nuclear Medicine and imaging Child Cerebral atrophy Brain Diseases medicine.diagnostic_test business.industry Phosphotransferases Galactosemia Age Factors Infant Newborn Galactose Infant Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging Surgery medicine.anatomical_structure Child Preschool Galactocerebroside Cerebellar atrophy Complication business |
| Zdroj: | Radiology. 184:255-261 |
| ISSN: | 1527-1315 0033-8419 |
| DOI: | 10.1148/radiology.184.1.1319076 |
| Popis: | The cerebral findings at magnetic resonance imaging in 67 transferase-deficient galactosemic patients (36 female, 31 male; median age, 10 years) are reported. Twenty-two patients had mild cerebral atrophy, eight had cerebellar atrophy, and 11 had multiple small hyperintense lesions in the cerebral white matter on T2-weighted images. The classic galactosemic patients (those without measurable transferase activity) older than 1 year of age did not show the normal dropoff in peripheral white matter signal intensity on intermediate- and T2-weighted images. The authors postulate that this abnormal signal intensity is due to altered myelin formation secondary to the inability to make sufficient and/or normal galactocerebroside. |
| Databáze: | OpenAIRE |
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