Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation.

Introduction Neurodegeneration with brain iron accumulation (NBIA) refers to a group of disorders that are characterized by iron accumulation, particularly in the basal ganglia (1). This process results in progressive dystonia, spasticity, Parkinsonism, neuropsychiatric abnormalities, optic atrophy or retinal degeneration. The worldwide prevalence of NBIA has been estimated at 1:1,000,000. The neuroaxonal dystrophies—pantothenate kinase-associated neurodegeneration (PKAN), which is now classified as NBIA type 1, and PLA2G6-associated neurodegeneration (PLAN), which is now classified as NBIA type 2—are the two main syndromes that account for most NBIA cases. Nevertheless, additional causative genes have been recently recognized to underlie much of the infrequent NBIA syndromes (2). The changes that are observed in patients with NBIA on cranial magnetic resonance imaging (MRI) are characteristic and virtually diagnostic. MRI changes demonstrate bilateral hyperintense signals within a hypointense region in the medial globus pallidus on T2-weighted images. These characteristic MRI findings are known as the eye-of-thetiger sign. In most PKAN cases, the abnormalities are restricted to the globus pallidus and substantia nigra, with 100% having an eye-of-the-tiger sign. In a minority of PKAN cases, there is hypointensity of the dentate nuclei (3). Treatments for NBIA are palliative and include pharmacologic treatment of spasticity and seizures, botulinum toxin or the intraventricular delivery of baclofen for focal dystonia and L-dopa treatment, which is beneficial in rare cases. In addition, there are therapies that are under investigation, including deep brain stimulation and iron chelation. Interest in iron chelation has re-emerged with data on the use of deferiprone, but iron chelation agents have been tried in the past without benefit (2). Although many of the neurologic aspects of NBIA are clearly known, the understanding of its psychiatric aspects and comorbidity is limited. In this case report, we present a case of NBIA with prominent psychotic features.