Uncommon morphologic characteristics in Leigh's disease.
نویسندگان
چکیده
We describe a 4-month-old male patient with severe developmental delay and elevated lactate in blood and CSF. The MR images showed abnormalities differing from the typical pattern found in association with Leigh's disease. The examination of fibroblast cultures showed diminished activity of mitochondrial complexes I and III. The patient died at the age of 9 months.
منابع مشابه
Thiamine Pyrophosphate and Thiamine Triphosphate Concentrations in Liver of Four Controls and Three Patients with Leigh ' S Disease
SYNOPSIS Analysis of five brains from patients with Leigh's disease demonstrates an accumulation of thiamine pyrophosphate and a deficiency of thiamine triphosphate. The enzyme which converts thiamine pyrophosphate to thiamine triphosphate was normally active in two of these brains, suggesting that the inhibitor found in Leigh's disease is probably producing the observed neurochemical changes. ...
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عنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 20 6 شماره
صفحات -
تاریخ انتشار 1999