الملخص
We report a novel presentation of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a 9-year-old Moroccan male patient born to consanguineous parents, expanding the known clinical spectrum of the disease. The patient presented to a tertiary care hospital in Rabat, Morocco, in 2023. This case presents an unusual phenotype with early-onset epilepsy beginning at age 5, significantly broadening the known phenotypic spectrum of ARSACS. While initial neuroimaging was unremarkable, the patient exhibited classical retinal involvement with bilateral nerve fibre layer thickening. Genetic analysis revealed a previously unreported homozygous frameshift mutation in the SACS gene (c.12429delT), representing the first documented case in the Moroccan population. This observation extends both the understanding of ARSACS' clinical heterogeneity and its geographical distribution in North Africa. The patient responded favourably to antiepileptic treatment and physiotherapy which underscores the importance of early recognition and multidisciplinary management in atypical presentations. This case highlights the necessity of considering ARSACS in the differential diagnosis of early-onset ataxia with epilepsy, particularly in consanguineous populations.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.2906
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 25(1), 756-761
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Laaraje, A., Alaoui, B., Radi, A., Hasani, A., Agadr, A., & Abilkassem, R. (2025). Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region. Sultan Qaboos University Medical Journal, 25(1), 756-761. https://doi.org/10.18295/2075-0528.2906
MLA 9
Laaraje, Azzeddine, et al. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region." Sultan Qaboos University Medical Journal, vol. 25, no. 1, 2025, pp. 756-761. https://doi.org/10.18295/2075-0528.2906.
شيكاغو (المؤلف–التاريخ)
Laaraje, Azzeddine, Basma Alaoui, Abdelilah Radi, Amal Hasani, Aomar Agadr, and Rachid Abilkassem. 2025. "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region." Sultan Qaboos University Medical Journal 25 (1): 756-761. https://doi.org/10.18295/2075-0528.2906.
هارفارد
Laaraje, A., Alaoui, B., Radi, A., Hasani, A., Agadr, A. and Abilkassem, R. (2025) 'Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region', Sultan Qaboos University Medical Journal, 25(1), pp. 756-761. doi:10.18295/2075-0528.2906.
فانكوفر
Laaraje A, Alaoui B, Radi A, Hasani A, Agadr A, Abilkassem R. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region. Sultan Qaboos University Medical Journal. 2025;25(1):756-761. doi:10.18295/2075-0528.2906
IEEE
A. Laaraje, B. Alaoui, A. Radi, A. Hasani, A. Agadr, and R. Abilkassem, "Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region," Sultan Qaboos University Medical Journal, vol. 25, no. 1, pp. 756-761, 2025, doi: 10.18295/2075-0528.2906.