Display options
Share it on

Radiol Case Rep. 2015 Dec 07;4(3):319. doi: 10.2484/rcr.v4i3.319. eCollection 2009.

Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation.

Radiology case reports

Muhammad Yousaf, Raghu H Ramakrishnaiah, Chhavi Kaushik, Manoj Kumar, Chetan Chandulal Shah

PMID: 27307830 PMCID: PMC4898076 DOI: 10.2484/rcr.v4i3.319

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.

Keywords: MRI, (magnetic resonance imaging)

References

  1. Lancet. 1996 Nov 2;348(9036):1224-5 - PubMed
  2. Nat Genet. 2001 Aug;28(4):345-9 - PubMed
  3. Arch Neurol. 1991 Dec;48(12):1285-93 - PubMed
  4. AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1230-3 - PubMed
  5. J Assoc Physicians India. 2006 Apr;54:320-2 - PubMed

Publication Types