title: Self-Mutilation in Neurodegeneration with Brain Iron Accumulation.
abstract: Neurodegeneration with brain iron accumulation (NBIA) is the term 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 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.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Sadanandavalli Retnaswami
authors.initials: SR
authors.lastname: Chandra
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Pawan
authors.initials: P
authors.lastname: Raj
authors.affiliation: Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Thomas Gregor
authors.initials: TG
authors.lastname: Issac
keywords: Childhood Movement Disorders; neuro degeneration with Brain Iron Accumulation; self-Mutilation