BS3017: A Nine-month-old Male Child, Born from a Consanguineous Marriage: Advanced Microbial Pathogenesis Case Study Assignment, NTU, Singapore

Assignment Description:

You are presented below with a case study, including a pedigree, of a specific genetic condition.

You will need to:

1. Research and critically evaluate the literature on the clinical and molecular basis of the condition.
2. Analyze and interpret the pedigree, then discuss the possible modes of inheritance for the disease.

Case Study:

A nine-month-old male child, born from a consanguineous marriage, presented with seizures, delayed developmental milestones, and regression of achieved milestones. He was the 5th child to his parents and had two brothers that died within the first 12 months of life due to respiratory failure and an uncle who died at 3 years with similar symptoms. In view of the above history, a genetic disease was considered, and he was investigated accordingly.

Family history and pedigree analysis are shown below. Magnetic resonance imaging (MRI) demonstrated a characteristic symmetrical necrotic lesion in the basal ganglia and brainstem leading to a suspected diagnosis of Leigh syndrome.