Generalised dystonia: clinical diagnosis is possible.
Neurodegeneration with brain iron accumulation type 1 (previously known as Hallervorden-Spatz syndrome) is a rare neurodegenerative disorder characterised by its typical clinical and radiological features. We present a case of an adolescent girl with rapidly progressive dystonia in whom the diagnosis of the above disorder was made prior to radiological investigation. This report has been made to highlight the diagnostic relevance of a good history and clinical examination. This is particularly important in a developing country where diagnostic radiological investigations are expensive.
Chacko
Binila
B
Department of Medicine, Christian Medical College and Hospital, Vellore 632 004, India. binilachacko@gmail.com
Seshadri
Pratibha
P
Sudarsanam
Thambu D
TD
D000293:Adolescent; D001479:Basal Ganglia / Q000473:pathology; D003241:Consanguinity; D018450:Disease Progression; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000175:diagnosis* / Q000473:pathology