DOI: https://doi.org/10.36347/sjmcr.2025.v13i10.102

Pages: 2613-2618

Introduction: Canavan disease is a rare autosomal-recessive leukodystrophy characterized by spongiform degeneration of the cerebral white matter secondary to aspartoacylase (ASPA) deficiency. It presents early with axial hypotonia, global psychomotor delay, and progressive macrocephaly. Objective: This work aims to illustrate the clinical, biological, and radiological particularities of this disorder through a Moroccan case. Case Report: We report the case of a 10-month-old female infant, born to first-degree consanguineous parents, presenting with severe axial hypotonia, absence of head control, generalized seizures, and macrocephaly. Brain MRI showed diffuse, symmetrical T2-weighted hyperintensities of the white matter, typical of spongiform leukodystrophy. Urinary assay revealed marked elevation of N-acetyl-aspartic acid (NAA), and molecular analysis confirmed homozygosity for the c.924del ASPA mutation. Management was symptomatic, including motor rehabilitation and nutritional assistance. Discussion: This observation illustrates the severe infantile form of Canavan disease. The combination of macrocephaly, developmental delay, and diffuse white-matter abnormalities should alert the clinician. Although differential diagnoses include other leukodystrophies, increased NAA and molecular confirmation are specific. Familial consanguinity and the presence of an affected sibling highlight the need for family screening and genetic counseling. Conclusion: Although no curative treatment exists, early identification of this rare disease allows appropriate management and opens perspectives for innovative therapeutic strategies, particularly gene therapy.