Late juvenile-onset Krabbe's disease
| Autor: | Donald Zimmerman, Brian R. Younge, James C. Trautmann, Robert H. Baker, Kent D. Nelson |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Visual Acuity Disease Consanguinity Atrophy Galactosylceramidase Medicine Humans Child Krabbe's disease Bone Marrow Transplantation Skin medicine.diagnostic_test business.industry Leukodystrophy Magnetic resonance imaging Fibroblasts medicine.disease Magnetic Resonance Imaging Leukodystrophy Globoid Cell Pedigree Ophthalmology Child Preschool Krabbe disease Female business |
| Zdroj: | Ophthalmology. 97(9) |
| ISSN: | 0161-6420 |
| Popis: | Krabbe's disease is an autosomal recessive leukodystrophy characterized by a lack of galactocerebroside beta-galactosidase activity. In contrast to the classic early infantile-onset form of Krabbe's disease, less recognized, late-onset variants exist. The authors present a case of late juvenile-onset Krabbe's disease, including the associated magnetic resonance imaging (MRI) findings. Most patients with late-onset Krabbe's disease present with visual loss due to optic atrophy. Associated gait abnormalities and parental consanguinity should increase the clinician's suspicion that a child may have late-onset Krabbe's disease. Because of the prolonged survival in late-onset Krabbe's disease, the recent development of bone marrow transplantation for these patient makes diagnosis of this disorder particularly important. |
| Databáze: | OpenAIRE |
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