TY - JOUR
T1 - Pantothenate kinase 2 deficiency
T2 - A neurodegeneration with brain iron accumulation
AU - Yousaf, Muhammad
AU - Ramakrishnaiah, Raghu H.
AU - Kaushik, Chhavi
AU - Kumar, Manoj
AU - Shah, Chetan Chandulal
N1 - Publisher Copyright:
© 2009 The Authors.
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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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U2 - 10.2484/rcr.v4i3.319
DO - 10.2484/rcr.v4i3.319
M3 - Article
AN - SCOPUS:84964408709
SN - 1930-0433
VL - 4
SP - 319
JO - Radiology Case Reports
JF - Radiology Case Reports
IS - 3
M1 - 319
ER -