Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism

Abstract EN

Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations.

We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism.

The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.