Annals of Bioethics & Clinical Applications (ABCA)

ISSN: 2691-5774

Opinion

Stories behind Being a Case Study

Authors: Nhung DT

DOI: 10.23880/abca-16000128

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.

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