Whetsell W O, Plaitakis A
Ann Neurol. 1978 Jun;3(6):519-24. doi: 10.1002/ana.410030612.
A 21-year-old man with a longstanding history of impaired visual acuity, strabismus, broad-based gait, and below-average intellectual capacity developed respiratory difficulties and intermittent generalized weakness at age 19. He subsequently showed signs of massive brainstem dysfunction and died. Postmortem examination demonstrated changes compatible with subacute necrotizing encephalomyelopathy of Leigh involving portions of the diencephalon, midbrain, pons, and medulla as well as portions of the spinal cord and optic nerves. Evaluation of family members for presence of the urinary inhibitor factor for thiamine diphosphate phosphoryl transferase revealed abnormal levels in a brother, a maternal uncle, and the maternal grandfather of the patient.
一名21岁男性，长期存在视力受损、斜视、宽基步态和智力低于平均水平的病史，19岁时出现呼吸困难和间歇性全身无力。随后，他出现了严重脑干功能障碍的体征并死亡。尸检显示病变符合Leigh亚急性坏死性脑脊髓病，累及间脑、中脑、脑桥、延髓部分以及脊髓和视神经部分。对家庭成员进行二磷酸硫胺素磷酸转移酶尿抑制因子检测，发现患者的一个兄弟、一位舅舅和外祖父的水平异常。
