Pantothenate Kinase 2 Deficiency: A Neurodegeneration With Brain Iron Accumulation
Muhammad Yousaf, Raghu H Ramakrishnaiah, Chhavi Kaushik, Manoj Kumar, Chetan Chandulal Shah
Abstract
Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27 year old, Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory and gait abnormality. Laboratory tests including serum copper and ceruloplasmin, were all normal. Magnetic Resonance Imaging (MRI ) examination of the brain played an important role in the diagnosis in this patient.
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