Indian Journal of Dermatology
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Year : 2015  |  Volume : 60  |  Issue : 3  |  Page : 290-292

Self-mutilation in neurodegeneration with brain iron accumulation

1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
2 Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India

Correspondence Address:
Sadanandavalli Retnaswami Chandra
Faculty Block, Neurocentre, NIMHANS Bangalore 560 029, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.156387

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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.

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