| Autor: |
Zafeiriou DI; 1st Pediatric Clinic, Aristotelian University of Thessaloniki, Greece., Michelakaki EM, Anastasiou AL, Gombakis NP, Kontopoulos EE |
| Jazyk: |
angličtina |
| Zdroj: |
Pediatric neurology [Pediatr Neurol] 1996 Oct; Vol. 15 (3), pp. 240-4. |
| DOI: |
10.1016/s0887-8994(96)00168-3 |
| Abstrakt: |
We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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