Hallervorden Spatz Disease: A Rare Case with Classical Disease Presentation in a 9 Year Old Girl
Abstract
Hallervorden-spatz disease, now known as pantothenate kinase-associated neurodegeneration PKAN disease comes under the umbrella of new term neurodegeneration with brain iron accumulation (NBIA). Classically it affects children in adolescent age.Clinicalfeaturesrange fromsevere extrapyramidal effectslike dystonia and athetosisto psychiatric disturbances. Some patientsmay develop eye involvementin the formofretinitis pigmentosa.Diagnosisis usually clinical and supported by MRIfindings oftiger-eyes appearance of basal ganglia.Available treatmentis only symptomatic not curative.In thisreport we have discussed the classical presentation of hallervorden spatz disease in a 9 year old girl who was diagnosed on the basis of clinical findings, eye changes along with MRI findings.
How to Cite This Article
Shabir S, Arshad N, Hamid MH. Hallervorden Spatz Disease: A Rare Case with Classical Disease Presentation in a 9 Year Old Girl. J Pak Soc Intern Med. 2024;5(1):438–440. doi:10.70302/jpsim.v5i1.2418
Conflict of Interest
All authors declare no competing interests.
Funding
No specific funding was received for this research.
Funder information follows the Crossref Funder Registry standard.
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