[Hallervorden-Spatz disease: presentation of a new case].
A case of Hallervorden-Spatz's disease is described in a thirteen-year-old patient, with typical case symptoms of pyramidalism, dystonia and regressive motor control, over the last four years. MRI provided a bilateral palidal image in 'tiger eye'. The possible appearance of early forms have been stressed, characterised by a learning delay and a regressive syndrome starting between 5-10 years of age, along with later forms which manifest themselves mainly as Parkinson's disease. The MRI findings are of considerable value when diagnosing 'in vivo'; the pathogeny is not clear, despite current theories.
Servicio de Neuropediatría, Hospital Sant Joan de Dèu, Universidad de Barcelona.
D
D
Pedrola
M
M
Pineda
E
E
Fernández Alvarez
D001479:Basal Ganglia / Q000503:physiopathology; D002648:Child; D003866:Depressive Disorder / Q000150:complications / Q000523:psychology; D004421:Dystonia / Q000503:physiopathology; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology
Enfermedad de Hallervorden-Spatz. Presentación de un caso y experiencia del servicio.