Leukodytrophy in Children: 12 Cases

Abstract

Introduction: Leukodystrophies are a rare geneLc disease characterized by damage of the myelin sheath. They represent a large number of diseases that are heterogeneous by their clinical and physiopathological aspects. Material and Methods: We report 12 cases of leukodystrophies collected at the Neuropediatric Unit of Abderrahim Harouchi Mother and Child Hospital CHU Ibn Rochd, Casablanca, Morocco. Results: The average age of diagnosis was 2 years and 9 months, with a predominance of females (sex raLo:0.33). Consanguinity was found in 5 cases. The onset symptomatology was dominated by psychomotor regression, found in 8 paLents, and seizures in 4 paLents. Motor signs were in the foreground: pyramidal syndrome in 5 cases, hypotonia in 4 cases, tetraparesis in 1 case, dysarthria in 1 case. The lumbar puncture, carried out in 4 paLents, revealed hyperproteinorachy in 3 cases, glycorachy and cytological study were normal. We noLced a decreased level of Aryllsulfatase A in 6 cases. Imaging was performed in all paLents and showed diffuse white ma]er demyelinaLon. MRI allowed us to classify our cases and showed 7 cases of metachromaLc leukodystrophy, 1 case of cavitary leukodystrophy, 1 case of Refsum disease, 1 case of Canavan disease, 1 case of Cockaynes syndrome and 1 case of adrenoleukodystrophy. The electroneuromyogram showed a decrease in nerve conducLon velociLes in 2 cases. Molecular study was performed in one paLent finding a hyccin mutaLon. Conclusion: The diagnosis of leukodystrophies is o_en difficult because of their clinical heterogeneity. The partnership of clinicians with geneLcists may be the key point to improve diagnosis and therapeuLc management.