Table 1

- Patient timeline.

DatesRelevant past medical history and interventions
Before 2011No relevant past medical history or interventions
DatesSummaries from initial and follow-up visitsDiagnostic testing (including dates)Interventions
May, 2011At the age of 13 years, the patient’s parents complained that the child’s language skills were lower than normal children1. On May 14, 2011 no abnormality was found on the children’s intelligence screening test.
2. A1 and C1 are the Cranial MRI images on May 14, 2011 (Figure 1)
Undetermined diagnosis; No clinical intervention
August, 2014At the age of 16 years, symptoms slowly and significantly worsened, specifically with elongated speech, heterogeneous pitch, and often fulminant.Results revealed obvious sulcus of vermis cerebelli; A2, B1 and C2 are the Cranial MRI images on August 4, 2014 (Figure 1)Undetermined diagnosis; No clinical intervention
November, 2017At the age of 19 years, the patient gradually developed right blepharoptosis, the inability to move in the lower and right lower direction (Figure 1), and exhibited double vision, as well as significantly elongated speech, heterogeneous pitch, and often fulminantNo diagnostic testingUndetermined diagnosis; No clinical intervention
November, 2019At the age of 21 years, aggravation of the above symptoms occurred1. In November, 2019 laboratory test, electrophysiological examination, cerebrospinal fluid examination, ECG and other related examinations were performed. The results are provided in Table 2.
2. In November, 2019 OCT showed outer retinal atrophy in the right eye (see Figure 2).
3. In November, 2019 a cranial MRI showed significant atrophy of the right cerebellar hemisphere (see A3, B2 and C3 in Figure 1).
4. In November, 2019 a quantitative polymerase chain reaction revealed that the patient had mitochondrial DNA deletion (mitochondrial/nuclear DNA: 18.7%) (mitochondria DNA depletion [mitochondria/nuclear DNA: 18.7%]), and that the patient’s mother had mitochondria DNA depletion (mitochondria/nuclear DNA: 2.7%).
Kearns-Sayre syndrome was diagnosed. The patient received trophic nerve therapy during hospitalization