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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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Česky / Czech version | Čes. a slov. Neurol. Neurochir 66/99, 2003, No. 4, p. 304–307. |
six-year follow-up of the adult form of metachromatic leukodystrophy Voško M. R., Kurča E., Michalik J., Poupětová H.1, Berná L.1, Adamková M., Drobný M. Neurologická klinika JLF UK a MFN, Martin 1Ústav dědičných metabolických poruch, 1. LF UK, Praha |
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Summary: The authors present the case-history of a female patient with the adult form of metachromatic
leukodystrophy. Metachromatic leukodystrophy is a rare hereditary disease with an autosomal recessive
heredity, its cause being deficiency of the lysozome enzyme arylsulphatase A. The patient’s disease
was clinically manifested in early adult age (22 years) by change of behaviour, impaired posture and
impaired gait. CT examination of the brain revealed multifocal damage of the white matter and mild
cerebral atrophy. MRI examination showed dystrophic changes of the white matter of the brain. EMG
examination revealed marked reduction of the conduction velocity in motor and sensory fibres. Protein
in cerebrospinal fluid was not elevated. Chromatographic analysis of the urinary sediment revealed
markedly increased excretion of suphatides (galactosylceramide I3 sulphate).Deficiency of arylsulphatase
A activity in leucocytes confirmed the diagnosis of metachromatic leukodystrophy. DNA analysis
confirmed in the arylsulphatase A gene a mutation P426L in the homozygoid form. The disease is
monitored for 6 years. In the clinical neurological picture dominates at present impaired posture and
gait along with disintegration of the personality.
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