Background:
Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families.
Case report:
A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. The patient was heterozygous for two KCNJ10 mutations: a missense mutation (p.R65C) that is already published and a not yet published duplication (p.F119GfsX25) that creates a premature truncation of the protein. Both mutations are likely damaging. Parental testing has not been performed, and therefore, we do not know for certain whether the mutations are on different alleles. This young man presents some clinical and laboratory features that differ from previously reported patients with epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Conclusion:
The necessity of accurate diagnosis through genetic testing in patients with static motor disorders resembling cerebral palsy phenotypes, atypical clinical features and noncontributory neuroimaging is emphasized.