Self-mutilation in neurodegeneration with brain iron accumulation

Self-mutilation in neurodegeneration with brain iron accumulation

Blog Article

Neurodegeneration with brain iron accumulation MICRODERMABRASION SCRUB (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 ZESTY ORANGE characteristic MR images are suggestive of NBIA.

There is only one case reported in the literature of self-mutilation in this condition.