Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation | Zendy

Muhammad Abdullah Yousaf | Zendy; Raghu Ramakrishnaiah | Zendy; Chhavi Kaushik | Zendy; Manoj Kumar | Zendy; Chetan C. Shah | Zendy

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Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation

Author(s) -

Muhammad Abdullah Yousaf,

Raghu Ramakrishnaiah,

Chhavi Kaushik,

Manoj Kumar,

Chetan C. Shah

Publication year - 2009

Publication title -

radiology case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.221

H-Index - 10

ISSN - 1930-0433

DOI - 10.2484/rcr.v4i3.319

Subject(s) - medicine , abnormality , ceruloplasmin , depression (economics) , dementia , neurodegeneration , magnetic resonance imaging , parkinsonism , extrapyramidal symptoms , paranoia , disease , pediatrics , pathology , psychiatry , radiology , schizophrenia (object oriented programming) , antipsychotic , economics , macroeconomics

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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