CACH SYNDROME: A CASE REPORT

CACH syndrome (Childhood Ataxia with Central Nervous System Hypomyelination), also known as Vanishing White Matter disease, is a rare genetic leukodystrophy caused by mutations in the EIF2B genes, which lead to impaired control of protein synthesis and the cellular stress response. It most commonly presents in childhood as progressive cerebellar ataxia, often triggered by an infectious episode, trauma, or stress. We report the clinical case of an 8-year-old female patient hospitalized for ataxia in the pediatric neurology and neurometabolic disorders unit of the Pediatrics II Department at the Childrens Hospital of Rabat, in whom the diagnosis of CACH syndrome was established and genetically confirmed. CACH syndrome is a rare genetic pediatric leukodystrophy characterized by cerebellar ataxia, frequently triggered by stress or infection. Diagnosis is based on characteristic brain MRI findings and confirmed by genetic testing. Early recognition of the disease allows avoidance of aggravating factors and optimization of symptomatic management.