Clinical and MRI study of the Hallervorden-Spatz syndrome: long-term follow-up of one case.
Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic. We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old. He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became completely bedridden at 6 years old. Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. The brain magnetic resonance imaging (MRI) done at the age of 8 years revealed symmetrical low signal intensity over the bilateral globus pallidi in the T2-weighted images coexistent with an area of high signal intensity over the anteromedial portion, known as "eye of the tiger" sign. Another MRI, followed up two years later, did not show marked difference in signal abnormalities over the globus pallidi in the T2-weighted images as compared with that of the previous one. However, progressive neurological deterioration existed.
Ou
S F
SF
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Chi
C S
CS
Shian
W J
WJ
Mak
S C
SC
D001921:Brain / Q000473:pathology; D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis*