Leukodystrophies – Clical and Radiological Findings

Česká verzia

Authors: M. Kolníková; P. Sýkora
Authors place of work: Klinika detskej neurológie LF UK a DFNsP Bratislava
Published in the journal: Cesk Slov Neurol N 2014; 77/110(5): 534-552
Category: Minimonography
doi: https://doi.org/10.14735/amcsnn2014534

Poďakovanie patrí primárke KDN, MUDr. Jaroslave Payerovej za podporu pri písaní a primárovi MUDr. Dušanovi Haviarovi a kolegom z Rádiologického oddelenia DFNsP v Bratislave za poskytnutie rádiologickej dokumentácie, profesorke M. V. Knaap z univerzitného centra VU Amsterdam za možnosť konzultácie MR nálezov a genetické vyšetrenie pacienta s leukoencefalopatiou – Vanishing White Matter disease (VWM).

Summary

Myelin disorders of the central nervous system are also known as leukoencephalopathies. This term includes diseases, in which changes of the white matter are dominant, or even exclusive, while neither the pathophysiological mechanism nor the histopathological basis are decisive. This broad selection of inborn and acquired disorders includes a group of leukodystrophies characterized by primary dysfunction of myelin and myelin-producing cells. Typically, six separate clinical entities are included in this group: X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe’s globoid cell leukodystrophy, Canavan disease, Pelizaeus-Merzbacher disease and Alexander disease. The group is constantly expanding as our knowledge develops. Clinical and laboratory findings, as well as MRI scans, are crucial for exact diagnosis. Accurate analysis of MRI images accelerates the diagnostic process considerably. A common feature of leukodystrophies is their progressive nature. Children exhibit rapid loss of motor and cognitive functions. In adolescent and adult patients, psychological and mental changes are the most prominent, while motor deficit has a later onset. The course of X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and Krabbe’s leukodystrophy can be managed at the early or pre-clinical stages with bone marrow or stem cell transplantation. Gene and enzyme therapy are indicated at the earliest stages of metachromatic leukodystrophy. For the remaining leukodystrophies, only symptomatic therapy is available. The purpose of this paper is to summarize current information and knowledge as well as possible therapeutic options in this group of disorders.

Key words:
leukodystrophy – leukopathy – clinical findings – magnetic resonance imaging

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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