Clinical Neuroscience

[Incidence of juvenile metachromatic leukodystrophy familiaris]

ABONYI Eszter1, AMBRÓZY György1, ANTAL János1, BENKE Bálint1, HÁMORI József1

JULY 01, 1969

Clinical Neuroscience - 1969;22(07)

[Authors discuss the relatively rare juvenile-type matachromatic leukodystrophy (M.L.) familiaris. In our cases, the first symptom was forced feeding, followed by extrapyramidal symptoms and movement disorders. Total CSF protein was moderately elevated only in our more severe case. The peripheral nerve conduction was characteristically slowed. Chromosomal analysis of fvs cultures showed no abnormalities. Cultured chromosome analysis in both patients showed no abnormality. In both patients, biopsies were taken from the n. cut. surae-lat. and in one case from the frontal lobe of the brain. Histopathology revealed a moderate degree of neuropathy. The diagnosis of M. L. was confirmed in vivo on the basis of a characteristic histological picture showing brown metachromasia with acetic acid cresyl violet. Myelin sheath lesions in M. L. were examined by electron microscopy. Nodular stitching of small fragments of the myelin sheath and phagocytosis into the astrocyte were observed. The intra-sheath oligodendroglial protrusion was generally more massive than usual, presumably indicating increased regeneration. The observations provide data that inclusiform bodies may be derived from the myelin sheath. The authors discuss the difficulties of in vivo diagnosis of M. L. in the Discussion. They discuss the possible link between M. L. and epilepsy and the EEG, EMG and nerve conduction velocity abnormalities observed in their patients. Biochemical aspects of the aetiology of the disease are summarised. Based on the analysis of the siblings' family trees and literature data, it is considered possible that within a family there is a combination of different types of M. L. disorders.]

AFFILIATIONS

  1. Budapesti Orvostudományi Egyetem I. sz. Neurológiai-és Psychiatriai Klinika és Anatomiai Intézet

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