The Challenges of Diagnosing NBIA

Dion A Paul*

Received: September 08, 2018;   Published: September 14, 2018

DOI: 10.32474/RRHOAJ.2018.02.000144

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Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a rare but well-established disorder of the central nervous system characterized by abnormal accumulation of iron in the basal ganglia. Upon presentation, the underlying specific defect can be deduced from the signs/symptoms and clinical presentation of the patient and thus can be placed in a specific category. However, idiopathic cases do exist, albeit very rare. In this case report, we present a patient with idiopathic NBIA, her clinical and genetic results did not match any of the six known types of NBIA. We also examine ways of differentiating NBIA types, and the crucial role of genetic and radiological tests in their diagnosis. Although, genetic testing can provide a definite diagnosis, but a combination of radiological and clinical features are quite helpful in supporting the diagnosis of NBIA.

Keywords: Neurodegeneration; Eye-of-The-Tiger sign; Basal ganglia; Aceruloplasminaemia; Neuroferritinopathy

Abstract| Introduction| Case Report| Radiological Investigation| Discussion| Acknowledgment| References|