Pain & Central Nervous System Week via NewsEdge :

2008 APR 21 - (NewsRx.com) -- Investigators publish new data in the report 'Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome.' "We report on an 8-year-old boy with mental retardation and spastic tetraparesis associated with atrophic skin on the face and extremities, telangiectasia, and severe dental caries (see also Mental Retardation). Basal ganglia calcification and multiple lesions in the subcortical white matter have been present since infancy," scientists in Yonago, Japan report.

"The patient has complications of liver dysfunction, multiple endocrine defects, and elevation of blood/cerebrospinal fluid lactate. Extensive laboratory examinations, including skin and muscle biopsies, and UV-and mitomycin C-sensitivity tests on fibroblasts, provided no evidence of a specific disease entity. No deterioration was noted, and supplementation of riboflavin and other vitamins had no apparent effect on the neurodevelopmental status of this patient," wrote Y. Saito and colleagues, Tottori University, Institute of Neurological Science.

The researchers concluded: "This patient may represent a novel disease entity, with unclear pathogenesis."

Saito and colleagues published their study in Brain and Development (Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome? Brain and Development, 2008;30(3):221-5).

For more information, contact Y. Saito, Institute of Neurological Sciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan.

Publisher contact information for the journal Brain and Development is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands.

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