Hallervorden-Spatz syndrome in two siblings diagnosed by clinical features and magnetic resonance imaging.

The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. The development of magnetic resonance imaging (MRI) has increased the number of clinical 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 1 was a 28 year old man who had been well until the age of 25 years. He developed 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.

Subacute necrotizing encephalopathy (Leigh's disease) in a child with particular reference to CT finding.

An example of subacute necrotizing encephalopathy, the fifth case in Thailand, was recorded. A 7-month-old boy presented clinically with vomiting, lethargy, respiratory difficulty, deteriorated consciousness, and hypotonia. The CT brain scan disclosed bilateral symmetrical radiolucencies in the basal ganglia, especially the lentiform nuclei, and thalami. Postmortem examination of these areas as well as the periaqueductal region revealed subacute necrotizing encephalopathy. It was characterized by necrosis, gliosis, and status spongiosus of the neuropil with relatively preserved neurons, and hyperplasia of small blood vessels as well as endothelium. As far as we are aware, the vast majority of abnormalities in the basal ganglia visualized by CT brain imaging often show calcific foci or high attenuation with asymmetrical distribution. Bilateral symmetrical lesions of low density are rare. We reported such an abnormality in a postmortem proven case of Leigh's disease. To recognize this finding should lead to correct antemortem diagnosis of the latter.