Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?

Berenberg, Richard A.; Pellock, John M.; DiMauro, Salvatore; Schotland, Donald L.; Bonilla, Eduardo; Eastwood, Abraham B.; Hays, Arthur P.; Vicale, C T; Behrens, Myles M.; Chutorian, Abe M.; Rowland, Lewis P.

doi:10.1002/ana.410010104

Cited by 298 publications

(97 citation statements)

References 44 publications

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“…89 Autonomic features including vomiting, impaired respiratory control, and cardiac arrhythmia have been observed with Leigh syndrome and Kerns-Sayre syndrome and in myoneurogastrointestinal disorder with encephalopathy. [90][91][92] In addition, autonomic or visceral features such as cardiac conduction defects or hypothermia and feeding problems may occasionally occur in other mitochondrial diseases including Leber hereditary optic neuropathy 93 and X-linked recessive kinky-hair disease. 94 In addition, decreased lacrimation, vasomotor disturbances characterized by blotchy erythema and skin mottling, altered sweating, and postural hypotension have also been noted in individuals in whom muscle biopsy has verified abnormal respiratory-chain enzymes.…”

Section: Autonomic Disorders Associated With Biochemical Errorsmentioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as its intimate relationship with sensory function. To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood.www.pediatrics.org/cgi

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Section: Autonomic Disorders Associated With Biochemical Errorsmentioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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“…1 Reported clinical manifestations of cardiac disease occur in 57% of the patients with Kearns-Sayre syndrome, including syncopal attacks, heart failure, and cardiac arrest. 3 Cardiac involvement is the most important factor in the prognosis of syndrome. When the heart is involved, the conduction system is frequently affected in a progressive manner.…”

Section: Discussionmentioning

confidence: 99%

Progression of Conduction System Disease in a Paced Patient With Kearns‐Sayre Syndrome

Yeşìl¹,

Bayata²,

Postaci³

et al. 2009

Clinical Cardiology

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“…[4][5][6] Hence, determination of the optimal time of pacemaker implantation can be a problem in patients with this syndrome. [7][8][9] In many cases, the disease eventually progresses to complete atrioventricular block, with a mortality of 20%. 6 Therefore, implantation in the early stages of the disease, such as in the 2-branch block stage, 8 has been recommended.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Encephalomyopathy (Kearns-Sayre Syndrome) With Complete Atrioventricular Block

Kakura

Tachibana²,

Nakamura³

et al. 1998

Jpn Circ J

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pacemaker was implanted into a 17-year-old male patient with mitochondrial encephalomyopathy (Kearns-Sayre syndrome) accompanied by cardiac failure due to complete atrioventricular block. We discuss several clinical problems relevant to this case, such as the patient's age, physique, cardiac disorder, and the prognosis for this syndrome. Case ReportThe patient was a 17-year-old male who experienced shortness of breath upon exertion due to bradycardia. The patient had developmental delays beginning at age 2, bilateral ptosis due to external ophthalmoplegia from 11 years of age and mitochondrial myopathy from 13 years of age. His visual power was diminished by atypical retinal pigmentation from 14 years of age, and bradycardia was apparent from 15 years of age. At 17 years of age, he visited hospital as an outpatient with cardiac failure resulting from the bradycardia. At the first examination, he was 129 cm tall and weighed 22.5 kg. His heart rate was 32 beats/min and his blood pressure was 126/50 mmHg. He was suffering from bilateral ptosis, decreased visual power, mental retardation, and microsthenic arms and legs. An electrocardiogram (ECG) on admission showed complete atrioventricular block in which the ventricular rate was 31 beats/min and there was right axial deviation, negative T waves in III and aVF, giant negative T waves in V1-V3, and prolongation of QT (QTc = 0.49) (Fig 1). Chest roentgenogram showed a cardiothoracic ratio (CTR) of 53% (Fig 2).Echocardiogram showed no hypertrophy and a normally functioning left ventricle. No pericardial effusion was detected (Fig 3). His illness was diagnosed as mitochondrial encephalomyopathy (Kearns-Sayre syndrome). According to the pediatricians and neurologists, further physical development of the patient could not be expected and after considering the patient's prognosis, we decided to implant a permanent pacemaker. The pacemaker (Medtronic Minuet 7108) was implanted on the major pectoral muscle and the operation mode was set to DDD 70 ppm (Fig 4). One year after implantation, the CTR decreased to 45% and cardiac failure was alleviated (Fig 5). DiscussionKearns-Sayre syndrome is regarded as a type of mitochondrial encephalomyopathy accompanied with mitochondrial DNA abnormality of the muscle. 1,2 The diagnosis of this disease is based upon the 3 chief symptoms (ie progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction block) together with a morphological abnormality of the mitochondria in the skeletal muscle observed on biopsy (ragged red fibers are observed with the Gomori-trichrome stain under a light microscope). 3,4 Although a skeletal muscle biopsy was not performed in the present case, the patient's disease is certainly a typical mitochondrial encephalopathy with the 3 chief symptoms of Kearns-Sayre syndrome.The characteristic cardiac abnormality of Kearns-Sayre syndrome is the development of morphologically abnormal mitochondria in myocardial cells at a high rate before the onset of an abnormal ECG or decreased power of ...

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Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?

Cited by 298 publications

References 44 publications

Pediatric Autonomic Disorders

Pediatric Autonomic Disorders

Progression of Conduction System Disease in a Paced Patient With Kearns‐Sayre Syndrome

Mitochondrial Encephalomyopathy (Kearns-Sayre Syndrome) With Complete Atrioventricular Block

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