Sophie Wittenbeck
Case study 2
1. What was Nicole’s diagnosis?
Nicole’s diagnosis was Leigh syndrome (LS). A gene mutation of the SURF 1 gene was likely
involved.
2. What was the event that triggered Nicole’s deterioration?
Nicole deterioration was triggered by viral respiratory infections. The symptoms she was
experiencing did not coincide with the sickness.
4. What symptoms caused her parents to take her to the doctor?
Nicole had problems sucking and turning her head. She was not gaining weight as she should
have, had little appetite, and began vomiting. Nicole was also irritable and cried all the time.
5. What symptoms presented while at the hospital?
At the hospital, Nicole also presented with seizure and decreased muscle tone.
6. What were the results of the metabolic tests and MRI?
The metabolic tests and MRI showed an increase in plasma lactate and pyruvate levels, along
with bilateral symmetric lesions in the basal ganglia and brainstem.
7. Which organelle is defective in Nicole’s Disease?
In Nicole’s disease, the mitochondria is defective. Mitochondria are responsible for energy
production in the cell. Over time, cells will die if they cannot produce energy. Nicole’s tiredness,
low energy and metabolic issues are due to her non-functioning mitochondria.