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Case ReportCase Report
Open Access

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation

Huan Zhao, Min Shi, Fang Yang and Xuhong Yang
Neurosciences Journal April 2022, 27 (2) 111-115; DOI: https://doi.org/10.17712/nsj.2022.2.20210123
Huan Zhao
From the Department of Neurology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People’s Republic of China.
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Min Shi
From the Department of Neurology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People’s Republic of China.
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Fang Yang
From the Department of Neurology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People’s Republic of China.
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Xuhong Yang
From the Department of Neurology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, People’s Republic of China.
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  • For correspondence: [email protected]
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  • Figure 1
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    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.

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    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.

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    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

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    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
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    Table 2

    - Laboratory examination, electrophysiological examination, cerebrospinal fluid (CSF) examination and other examinations.

    ExaminationsResults
    Hematology
    White blood cell5.05*109/L
    Percentage of Neutrophils37.5%
    Whole blood C-reactive protein<0.50mg/L
    Cholesterol(-)
    Bile acid(-)
    Liver enzyme(-)
    Tumor markers(-)
    Autoimmune antibody profile(-)
    Fasting blood glucose6.3mmol/l
    Glycosylated hemoglobin5.2
    T31.61 nmol/L
    T4102.5 nmol/L
    Parathyroid gland hormone(-)
    Sex hormone(-)
    VitB12680 pmol/L
    Folate11.3 nmol/L
    Coenzyme Q10/
    Vitamin E(-)
    Anti-GAD antibody/
    Cerebrospinal fluid
    Total white blood cells4.1
    Red blood cell10.3
    Protein254 mg/dL
    IgG1.87 mg/dL
    EEG(-)
    Electromyography
    F-wave(-)
    H-reflex(-)
    Repetitive stim(-)
    Fundus Optical Tomography (OCT)Outer retinal atrophy
    Abdominal ultrasonography(-)
    Chest CT(-)
    ECGExtension of PR interval

    ECG - electrocardiogram, IgG - Immunoglobulin G, EEG - electroencephalogram, T4 - thyroxine

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      Table 3

      - Negative test result of mitochondrial gene hotspot mutation in MELAS (Mitochondrial Encephalomyopathy) syndrome using PCR-Sanger.

      Test methodTest SitesTest resultsReference values
      PCR-sanger sequencingm.3093CC
      m.3243AA
      m.3244GG
      m.3252AA
      m.3256CC
      m.3258TT
      m.3260AA
      m.3271TT
      m.3291TT
      m.13513GG
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    Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
    Huan Zhao, Min Shi, Fang Yang, Xuhong Yang
    Neurosciences Journal Apr 2022, 27 (2) 111-115; DOI: 10.17712/nsj.2022.2.20210123

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    Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
    Huan Zhao, Min Shi, Fang Yang, Xuhong Yang
    Neurosciences Journal Apr 2022, 27 (2) 111-115; DOI: 10.17712/nsj.2022.2.20210123
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