Adenylosuccinate lyase deficiency is a rare inherited disorder of purine metabolism causing severe neurological impairment ranging from early-onset neonatal epileptic encephalopathy to progressive psychomotor retardation and autism in later life. Diagnostic workup involves the measurement of toxic succinyl purines in body fluids and gene sequencing. The authors describe a 13-mo-old girl with compound heterozygous variants in the ADSL gene, presenting as early-onset seizures, severe neurological impairment, development delay, and hypotonia. Neuroimaging revealed cerebral atrophy, delayed myelination and diffusion restriction in bilateral basal ganglia, thalamus and periventricular white matter. The present case highlights ADSL deficiency as a rare cause of metabolic epilepsy that needs timely recognition and prevention of unnecessary investigations.
Keywords: Adenylosuccinate lyase deficiency; Encephalopathy; Epilepsy; IEM; Metabolic epilepsy.