Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA
作者： Gabriele Krauch , Ekkehard Wilichowski , Klaus G. Schmidt , Ertan Mayatepek
DOI: 10.1002/AJMG.10410
关键词:
摘要: Pearson marrow-pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive. We report 5-year-old patient who developed, in addition typical features of syndrome, worsening cardiac function, mainly affecting left ventricle. The latter finding particularly interesting because involvement has not yet been regarded as major feature syndrome. diagnosis was proved by so far undescribed pleioplasmatic rearrangement mitochondrial (mt)DNA (loss 5,630 bp, 70% deleted duplicated mtDNA) blood cells. Our demonstrates patients may also have impaired function. Thus, should be considered differential ventricular dysfunction unknown origin other clinical findings suggestive disease.
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