Clinical Profile of Late-Infantile and Juvenile Metachromatic Leukodystrophy: A Retrospective Study
Abstract
Objectives: Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease leading to demyelination and neurological impairment.
Based on the age at onset, late-infantile, juvenile, and adult forms are defined. In this study, our aim was to define the clinical characteristics in
late-infantile and juvenile forms.
Materials and Methods: Twelve children with either late-infantile or juvenile form of MLD were enrolled. Patient records were retrospectively
analyzed to gather demographic, clinical, laboratory, and imaging data.
Results: Patients had a median age of 2 years (1.5-15) at the onset of symptom. Five (41.7%) patients had family history of MLD. Seven (58.3%)
children were diagnosed as late-infantile form while 5 (41.7%) children were classified as juvenile form. In the late-infantile group, gait impairment
(7/7, 100%) was the primary symptom, whereas behavioral/cognitive impairment (4/5, 80%) predominated the juvenile group. Eleven patients
(91.7%) had cognitive impairment at the time of admission. Only one patient (8.3%) had epilepsy. While none of the patients in the juvenile group
lost ambulation in follow-up, all late-infantile patients were non-ambulatory at their most recent visits.
Conclusion: Our findings, along with those of other studies, support the diverse clinical picture of these two types of MLD. It is essential to recognize
the age-specific signs to make an early diagnosis of MLD. Our findings suggest that MLD should be thoroughly investigated in children with a
neurodegenerative course. Moreover, siblings of MLD patients should also be carefully evaluated.
Keywords
Metachromatic Leukodystrophy, Late-Infantile, Juvenile, Children
Ethical Statement
Ethical approval was obtained
from the Ethics Committee of Hacettepe University Faculty of
Medicine (approval number: 17/511-21).
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