Ataxia and focal dystonia in Kallmann syndrome

Kallmann syndrome (KS) is a type of isolated hypogonadotropic hypogonadism associated with anosmia, and which can also present with bone and visceral malformations and nervous disorders. Hypogonadotropic hypogonadism features low plasma concentrations of LH, FSH, and sex steroids due to low luteinizing hormone–releasing hormone (LHRH) production by the hypothalamus 1. We present a case of KS with rare neurological manifestations, namely ataxia and dystonia. Our purpose is to determine the pathogenesis of these manifestations.