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

Geç İnfantil ve Jüvenil Metakromatik Lökodistrofinin Klinik Özellikleri: Retrospektif Bir Çalışma

Abstract

Amaç: Metakromatik lökodistrofi (MLD), demiyelinizasyona ve nörolojik etkilenmeye yol açan bir glikosfingolipid depo hastalığıdır. Semptomların başlangıç yaşına göre geç infantil, jüvenil ve yetişkin formlara ayrılır. Bu çalışmada geç infantil ve juvenil formların klinik özelliklerini değerlendirmek amaçlanmıştır. Gereç ve Yöntem: Geç infantil veya juvenil MLD tanısını almış on iki çocuk bu çalışmaya dahil edildi. Demografik, klinik, laboratuvar ve görüntüleme verileri geriye dönük olarak incelendi. Bulgular: Hastaların semptom başlangıcında ortanca yaşı 2 (1,5-15) yıldı. Beş (%41,7) hastanın ailesinde MLD öyküsü vardı. Yedi (%58,3) çocuk geç infantil form, 5 (%41,7) çocuk ise juvenil form olarak sınıflandırıldı. Geç infantil grupta yürüme bozukluğu (7/7, %100) ana semptom iken, jüvenil grupta davranışsal/bilişsel bozukluk (4/5, %80) en yaygın semptomdu. Başvuru sırasında 11 hastada (%91,7) bilişsel etkilenme vardı. Bir hasta (%8,3) epilepsi tanısı aldı. Jüvenil gruptaki hastalar kontrollerde hala ambulatuvar iken, geç infantil gruptaki çocukların hiçbiri son kontrolde yürüyemiyordu. Sonuç: Literatürdeki diğer çalışmalara benzer şekilde çalışmamızın sonuçları geç infantil veya juvenil MLD formlarının birbirlerinden farklı bir klinik seyir izlediğini göstermiştir. Erken teşhis için yaşa özgü belirtileri tanımak önemlidir. Bulgularımız, nörodejeneratif seyirli hastalık gösteren çocuklarda MLD’nin kapsamlı bir şekilde araştırılması gerektiğini vurgulamaktadır. Ayrıca, MLD hastalarının kardeşleri de dikkatle değerlendirilmelidir.

Keywords

• Metakromatik Lökodistrofi
• Geç İnfantil
• Jüvenil
• Çocuk

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