Researchers at the University of Toronto, Canada report the case of a 13-month-old girl with neonatal hypoglycemia, lactic acidosis, and bilateral symmetrical temporal lobe hemorrhages and thalamic changes on cranial MRI. She developed multifocal and myoclonic seizures refractory to multiple antiepileptic drugs that responded to pyridoxine. A diagnosis of a-aminoadipic semialdehyde dehydrogenase deficiency was confirmed by elevated urinary a-aminoadipic semialdehyde excretion, and a novel missense mutation in the ALDH7A1 gene. Seizures were controlled by pyridoxine alone since 1.5 months of age. At 13 months, she has motor delay and central hypotonia but normal language and social development. [1]
COMMENT. Pyridoxine-dependent epilepsy is reported with mutations in the ALDH7A1 gene that encodes antiquitin. The clinical spectrum of antiquitin deficiency includes ventriculomegaly detected on ultrasound, abnormal fetal movements, a multisystem neonatal disorder, and seizures and autistic features. Brain abnormalities and hypoglycemia that may coexist make diagnosis difficult, and tests for antiquitin deficiency and a clinical trial of pyridoxine are recommended when neonatal seizures are refractory to anticonvulsants. [2]