ITPA‐associated developmental and epileptic encephalopathy: characteristic neuroradiological features with novel clinical and biochemical findings

Abstract

AbstractDevelopmental and epileptic encephalopathies (DEE) in children have an everexpanding range of rare causes. Mutations in ITPA have been recently described as causative of DEE, but only a small number of patients have been reported so far. We describe two Indian children with novel variants in the ITPA gene. Both patients had characteristic, previously described, neuroradiological findings that helped us suspect this condition even before genetic evaluation. In addition, we present new and rarely reported clinical findings associated with this condition: migrating partial epilepsy, fever‐triggered seizures, movement disorder including oculogyria and dystonic tremor. One of the patients also had high cerebrospinal fluid glycine levels. Both patients had drug‐responsive epilepsy, in contrast to drug‐resistant seizures in previously reported patients. These patients reiterate the utility of awareness of specific neuroradiological findings and subsequent genetic evaluation to help make a precise diagnosis. Our report also extends the clinical spectrum and provides insight into possible biochemical causes for the neuroimaging findings seen in this condition.