Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia.

Research paper by Shu-Hao SH Wei, Wen-Chin WC Weng, Ni-Chung NC Lee, Wu-Lian WL Hwu, Wang-Tso WT Lee

Indexed on: 08 Apr '11Published on: 08 Apr '11Published in: Journal of child neurology


Non-ketotic hyperglycinemia is a disorder of glycine metabolism with severe neurologic regression in the infantile stage, while late-onset non-ketotic hyperglycinemia is a rare form characterized by variable clinical, biochemical, and imaging features. This report describes a boy of late-onset non-ketotic hyperglycinemia presenting with an unusual long tract-like lesion of the spinal cord aside by magnetic resonance imaging. This is the first reported child of non-ketotic hyperglycinemia with abnormal imaging features of spinal cord.