Neurodegeneration with brain iron accumulation (NBIA) is the term read more applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia.Well-known phenotypic features are progressive regression with extra pyramidal involvement and a variable course.A 10-year-old child born to consanguineous parents presented with progressive generalized opisthotonic dystonia, retrocollis, oromandibular dyskinesias, apraxia for swallowing, optic atrophy and severe self-mutilation ribavirin coupon of lips.MR imaging showed brain iron accumulation.Other causes of self-mutilation were excluded.
Early infantile onset, ophisthotonic dystonia with oromandibular dyskinesias and characteristic MR images are suggestive of NBIA.There is only one case reported in the literature of self-mutilation in this condition.