Cerebral blood flow and benzodiazepine receptor distribution in a patient with ALG6-congenital disorder of glycosylation

In patients with PMM2-CDG, cerebellar proton magnetic resonance spectroscopy demonstrated decreased N-acetylaspartate and glutamine–glutamate complex concentrations, alongside increased myoinositol levels, indicative of neuronal impairment and reactive gliosis. However, functional assessments using single-photon emission computed tomography (SPECT), including evaluations of cerebral blood flow and benzodiazepine receptor distribution, remain lacking. Herein, we present the SPECT findings and neurodevelopmental outcomes in a patient with ALG6-CDG who exhibited neither cerebellar symptoms nor cerebellar malformations