Hallervorden-Spatz Syndrome in Two Siblings Diagnosed by Clinical Features and Magnetic Resonance Imaging

SOMSAK TIAMKAO, M.D.*, BENJAPORN NITINAVAKARN, M.D.**, SUTHIPUN JITPIMOLMARD, M.D., D.C.N. (Lond.)*

Affiliation : * Department of Medicine, ** Department of Radiology, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.

AbstractThe Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyra- midal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. The development of magnetic resonance imaging (MRI) has increased the number of cli- nical and pathological reports of HSS. MRI pallidal abnormalities are called "eye of the tiger" signs. The combination of clinical features and MRI findings can be considered as highly suggestive of a diagnosis of HSS.
Patient I was a 28 year old man who had been well until the age of 25 years. He deve- loped dysarthria, difficulty with his gait and dystonia in his arms at the age of 28 years. Patient 2 was a 33 year old man who was the older brother of the first patient. He developed gait difficulty, tongue dystonia and dystonia of both arms at the age of 25 years. Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa. Blood chemistry, urine copper, serum copper and serum ceruloplasmin were all normal. MRI of the brain showed the "eye of the tiger" sign in the globus pallidus on T2 - weighted images.
These siblings had clinical features and MRI findings consistent with HSS. They are the first to be reported in Thailand.

Keywords : Hallervorden - Spatz Syndrome, Eye of the Tiger, MRI

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