Stories behind Being a Case Study
Journal Title: Annals of Bioethics & Clinical Applications - Year 2020, Vol 3, Issue 3
Abstract
“A 21month old male child had developed epilepsy, muscular weakness and vomiting, which was accompanied by high fever. Magnetic resonance imaging indicated typical characteristics of Leigh syndrome, including a symmetric abnormal signal in the dorsal medulla oblongata and Sylvian fissure enlargement in association with an abnormal signal in the periventricular white matter and in the putamina and caudate heads. The diagnosis was further supported with genetic tests including polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), sequencing and quantitative PCR. The patient was found to carry a mitochondrial T8993C (m.T8993C) mutation in peripheral blood with 94.00±1.34% heteroplasmy. Eight of his relatives were also subjected to quantification of the m.T8993C mutation.
Authors and Affiliations
Nhung DT*
Keywords
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- EP ID EP745187
- DOI 10.23880/abca-16000128
- Views 27
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