Article Figures & Data
Figures
- Figure 1
- MRI images A1 and C1) are the cranial MRI images on May 14, 2011. They reveal obvious sulcus of vermis cerebelli; A2, B1 and C2) are the cranial MRI images on August 4, 2014. They reveal slight narrowing of the gyrus of the right cerebellar hemisphere; A3, B2 and C3) are the cranial MRI images on November 4, 2019. They reveal narrowing of the gyrus of the right cerebellar hemisphere and widening of the sulcus.
- Figure 2
- Outer retinal atrophy in the right eye revealed by OCT of both eyes in the Department of Ophthalmology of our hospital in November 2019.
- Figure 3
- The physical examination image A) November 1, 2019: both pupils are of the same size and roundness, with a diameter of about 3mm, sensitive to light reflex, blepharoptosis for the right, and mild restriction for movement in the downward and lower right directions; B) April 20, 2020: both pupils are of the same size and roundness, with a diameter of about 3 mm, sensitive to light reflex, blepharoptosis for the right, unable to move in the downward and lower right directions.
Tables
Dates Relevant past medical history and interventions Before 2011 No relevant past medical history or interventions Dates Summaries from initial and follow-up visits Diagnostic testing (including dates) Interventions May, 2011 At the age of 13 years, the patient’s parents complained that the child’s language skills were lower than normal children 1. 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, 2014 At 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, 2017 At 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 fulminant No diagnostic testing Undetermined diagnosis; No clinical intervention November, 2019 At the age of 21 years, aggravation of the above symptoms occurred 1. 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 - Table 2
- Laboratory examination, electrophysiological examination, cerebrospinal fluid (CSF) examination and other examinations.
Examinations Results Hematology White blood cell 5.05*109/L Percentage of Neutrophils 37.5% Whole blood C-reactive protein <0.50mg/L Cholesterol (-) Bile acid (-) Liver enzyme (-) Tumor markers (-) Autoimmune antibody profile (-) Fasting blood glucose 6.3mmol/l Glycosylated hemoglobin 5.2 T3 1.61 nmol/L T4 102.5 nmol/L Parathyroid gland hormone (-) Sex hormone (-) VitB12 680 pmol/L Folate 11.3 nmol/L Coenzyme Q10 / Vitamin E (-) Anti-GAD antibody / Cerebrospinal fluid Total white blood cells 4.1 Red blood cell 10.3 Protein 254 mg/dL IgG 1.87 mg/dL EEG (-) Electromyography F-wave (-) H-reflex (-) Repetitive stim (-) Fundus Optical Tomography (OCT) Outer retinal atrophy Abdominal ultrasonography (-) Chest CT (-) ECG Extension of PR interval ECG - electrocardiogram, IgG - Immunoglobulin G, EEG - electroencephalogram, T4 - thyroxine
- Table 3
- Negative test result of mitochondrial gene hotspot mutation in MELAS (Mitochondrial Encephalomyopathy) syndrome using PCR-Sanger.
Test method Test Sites Test results Reference values PCR-sanger sequencing m.3093 C C m.3243 A A m.3244 G G m.3252 A A m.3256 C C m.3258 T T m.3260 A A m.3271 T T m.3291 T T m.13513 G G
