Succinic semialdehyde dehydrogenase deficiency – a rare cause of metabolic stroke

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder characterized by defective degradation of gamma-aminobutyric acid (GABA), major inhibitory neurotransmitter the brain. Children with SSADH present motor mental delay, intractable seizures, infantile onset hypotonia, speech disturbances, extrapyramidal symptoms and ataxia. This wide spectrum results from increased accumulation 4hydroxy butyric (4HBA) leading to down regulation GABA receptors, which likely explain epileptogenesis but pathophysiology stroke in not much elucidated. Here, we report an infant aged 11 months, product consanguineous marriage significant family history delay intellectual disability, presented sudden focal neurological deficit preceded diarrheal illness. Examination revealed age-appropriate milestones having left uncrossed hemiplegia along neuroradiological evidence right globus pallidus ischemic infarct. Urinary organic profile chromatography was suggestive 4 hydroxybutyric aciduria.