Globoidní leukodystrofie (Krabbeho nemoc). Studie českých pacientů a přehled současných názorů na biologii a diferenciální diagnózu
| Title in English | Globoid Leukodystrophy (Krabbe´s Disease). A Series of Czech Patients and a Survey of Current Views of Biology and Differential Diagnosis |
|---|---|
| Authors | |
| Year of publication | 2006 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | globoid leukodystrophy; Krabbe disease; galactocerebrosidase; demyelination |
| Description | Globoid leukodystrophy (Krabbe disease) is a rare demyelinating disorder affecting both the central and peripheral myelin. The nature of the disease is deficient activity of lysosomal enzyme galactocerebrosidase. Based on the age at the first clinical symptoms, there are 4 types of the disease recognized: infantile form and 3 forms with later onset (late infantile, juvenile, adult). The report aimed at the survey of Czech patients diagnosed during 26 years. A set involves 14 patients. 11 of them had infantile form, 2 patients late infant form, and 1 patients adult form. By 6 months of age the patients with the infantile form manifested the following symptoms: retardation or regression of development (11/11), high irritability (11/11), problems with food intake (8/11), increased muscle tone (8/11) with simultaneous decrease (6/11) as well as increase (1/11) of tendon reflex, spastic pyramidal signs (7/11), convulsions (6/11), fever of unclear etiology (3/11), attacks of opisthotonus (6/11), screaming without any evident cause (5/11), vomiting (2/11). The initial symptom in the patients with the late infantile form was the disturbance of vision (1/2) or of walking (1/2). Spastic paraparesis was a clinical manifestation in a patient with the adult form. The diagnosis of globoid leukodystrophy was established by demonstrating deficient activity of galactocerebrosidase in peripheral leukocytes, in older case by the brain biopsy or autopsy. The disease was thought of in 10/14 cases. The diagnosis of globoid leukodystrophy should be considered in a neurological disease with symmetrical affection of the white matter (the best documented by MRI) if any signs of visceral, clinically manifestable organ involvement are missing. The exception is the affection of the peripheral myelin evident either clinically or by means of electrophysiological examination. |
| Related projects: |