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

Authors

Azzeddine Laaraje, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow
Basma Alaoui, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow
Abdelilah Radi, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow
Amal Hasani, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow
Aomar Agadr, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow
Rachid Abilkassem, Department of Paediatrics, Mohammed V Military Training Hospital, Mohammed V University, Rabat, MoroccoFollow

Abstract

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.

Publication Date

8-13-2025

First Page

756

Last Page

761

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Recommended Citation

Laaraje, Azzeddine; Alaoui, Basma; Radi, Abdelilah; Hasani, Amal; Agadr, Aomar; and Abilkassem, Rachid (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: Vol. 25: 756-761.
DOI: https://doi.org/10.18295/2075-0528.2906