Emergency Room visits
42 year-old-man experienced syncope accompanied with trauma and transferred to Konyang University Hospital Emergency Medical Center via a nearby hospital with complete AV block ECG finding ( Figure 1). Mental status was drowsy and no murmur was auscultated. Temporary pacemaker was inserted and patient admitted to ICU.
Past and family history Patient shows weak physically. From the age of 12, he had weak muscles, growths slow and could not play well. From the twenty, he had limb weakness and gait disturbance, decreased visual acuity, and bilateral ptosis. There was no other medical history. His mother had polio on Rt. leg and died with heart failure.
Progress TTE and CAG revealed no significant structure and coronary artery disease. But complete AV block was continued to the third hospital day, so permanent pacemaker insertion was performed.
Ophthalmic examination There were bilateral ptosis and limitation of eye movement at all-gazes (Figure 2). Multiple pigment degeneration was shown at Fundus photograph and Fluorescein angiography (Figure 3 and Figure 4).
Muscle biopsy of gastrocnemius Muscle biopsy shows relatively well preserved myofibers and rare ragged red fibers on Gomori trichrome stain (Figure 5). Electron microscope shows focal increased aggregation of mitochondria (Figure 6) and crystalline inclusions within the mitochondrial cristae (Figure 7).
Diagnosis Kearns-Sayre Syndrome
Hormone study Combined pituitary stimulation test was done for evaluate endocrinologic abnormality and patient was diagnosed to adrenal insufficiency.
Discussion Kearns-Sayre Syndrome (KSS) is very rare disease, showing mitochondrial myopathy with a typical onset before twenty years of age. KSS usually involves eyelid and eye, results in ptosis and pigmentary retinopathy, and cardiac conduction abnormality. And it may include cerebellar ataxia, muscle weakness and endocrinologic problems. KSS can be diagnosed with muscle biopsy or electron microscopic findings. There are no known risk factors and curative treatments because KSS is very rare disease and so there is very little data on KSS. Most patients needed pacemaker implantation due to conduction abnormality. Patient who presents ptosis, muscle weakness, short stature or growth abnormality with onset before twenty should be consider ECG, hormone study, ophthalmologic examinations. And pacemaker implantation is recommended in case of conduction abnormality even in asymptomatic patient.
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Figure 1. Initial ECG in ER
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Figure 2. Gaze photographs
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Figure 3. Fundus photographs
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Figure 4. Fluorescein angiography
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Figure 5. Skeletal muscle biopsy on Gomori trichrome stain
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Figure 6. Electron microscope [Hitachi HT7700 EM x4,000]
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Figure 7. Electron microscope [Hitachi HT7700 EM x25,000]
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