|Year : 2000 | Volume
| Issue : 1 | Page : 54-5
Kearns Sayre syndrome: An atypical presentation
Rajakannan, Gayathri, W Prasad, R Ramakrishnan, NV Prajna
Aravind Eye Hospitals and PG Institute of Ophthalmology, 1 Anna Nagar, Madurai-625 020, India
Aravind Eye Hospitals and PG Institute of Ophthalmology, 1 Anna Nagar, Madurai-625 020
Source of Support: None, Conflict of Interest: None
Keywords: Adolescent, Diagnosis, Differential, Electrocardiography, Humans, Kearns-Sayer Syndrome, diagnosis, Male, Mitochondria, Muscle, ultrastructure, Muscle, Skeletal,
|How to cite this article:|
Rajakannan, Gayathri, Prasad W, Ramakrishnan R, Prajna N V. Kearns Sayre syndrome: An atypical presentation. Indian J Ophthalmol 2000;48:54
Kearns Sayre syndrome is a rare presentation which usually involves a triad of factors: external ophthalmoplegia, retinal pigmentary degeneration, and heart block. We present a clinically and histopathologically confirmed case of Kearns Sayre syndrome that involved no retinal pathology.
Indian J Ophthalmol 2000; 48:54-55
| Case report|| |
A 17-year-old male presented with bilateral drooping of eyelids and inability to move the eyes in any gaze of two years' duration. During this time period he developed generalized weakness and fatigue to the extent of not being able to perform his daily chores, and dyspnea on mild exertion. These symptoms started simultaneously, were insidious in onset, gradually progressed over time, and did not have any provocative or relieving factors. None of the other family members had similar complaints.
An ocular examination revealed a bilateral visual acuity of 6/6 with bilateral ptosis (left eye more than right) [Figure - 1] and total external ophthalmoplegia. The pupils were of normal size and reacted briskly to direct and consensual light stimulation. The central and peripheral fundus picture was normal. Fluoroscein angiography and electroretinogram revealed a normal study.
He was then subjected to systemic examination by an internist for his general complaints. Neurological examination was otherwise normal except for a proximal myopathy with mild weakness of both upper and lower limbs (able to move limbs against gravity with moderate difficulty).
A cardiological evaluation revealed a soft systolic murmur all over the precordium. The pulse rate was normal and felt equally in all peripheral vessels. An electrocardiogram was performed which revealed a right bundle branch block.
A peripheral skeletal muscle biopsy was then performed. A 3 x 1.5 cm of sartorius muscle was taken from the right thigh under local anesthesia. Sections stained by haematoxylin and eosin showed well-preserved fascicular architecture. The fibres were polygonal in shape with peripherally placed nuclei. An occasional small-angulated fibre, and fibres that appeared moth eaten were noticed [Figure - 2]. Histochemical stains for oxidative enzymes (NADH-TR and SDH) revealed condensed reaction product in the subsarcolemmal region in a majority of the fibres [Figure - 3]. "Ragged red fibres" were observed on modified Gomori's trichrome (MGT) staining. At the ultrastructural level a moderate number of fibres revealed aggregates of a large number of mitochondria in the subsarcolemmal region. The mitochondria were of varying size with altered cristae pattern. Paracrystalline inclusions of "parking lot type" were seen on some of the mitochondria [Figure - 4]. Based on these clinical and histopathological features, a diagnosis of Kearns Sayre syndrome was made.
| Discussion|| |
In 1958, Kearns and Sayre described two patients with external ophthalmoplegia, pigmentary degeneration of the retina and complete heart block, a triad which subsequently came to be known as the Kearns Sayre syndrome. The syndrome occurs sporadically and is rarely autosomal dominant.
Retinal pathology has been consistently described in all reports of Kearns Sayre syndrome. The retinopathy is usually termed atypical to distinguish it from the more characteristic pigmentary retinopathy of retinitis pigmentosa group of diseases. The retinal degeneration often occurs centrally and the fundus picture is described as "salt and pepper" or "moth-eaten appearance". Histopathological studies reveal atrophy of retinal pigmentary epithelium (RPE) and it has been suggested that a breakdown in the energy-dependent interrelationships between the RPE and the photoreceptor layer is responsible for outer retinal degeneration.
The aetiology of this syndrome remains obscure. Some authors have found a loose coupling of mitochondrial oxidative phosphorylation while others believe that the basic metabolic defect may be related to abnormal lipid metabolism. Recent reports implicate the deletions in the mitochondrial DNA (mt DNA) which vary in size and so affect a number of different respiratory enzymes.
The appearance of "ragged red fibres" under light microscopic examination is because of increased numbers of mitochondria. On transmission electron microscopy also, the mitochondria are reported to be increased in number and size and contain paracrystalline inclusions and concentric cristae.
Sudden deterioration and death in patients with this syndrome is attributed to complete A-V heart block. To our knowledge, this is a rare case report of Kearns Sayre syndrome without any retinal changes. The diagnosis of this syndrome is important because of its potential morbidity and mortality.
| References|| |
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol
McKechnie NM, King M, Lee WR. Retinal pathology in the Keams Sayre syndrome. Br J Ophthalmol
Van Wijngaarden GK, Bethlem J, Meijer AEFH, Hulsmann WC, Feltkamp CA. Skeletal muscle disease with abnormal mitochondria. Brain
Olson W, Engel WK, Walsh GO, Einaugler R. Oculocraniosomatic neuromuscular disease with "ragged red" fibres. Arch Neurol
Phillips CI, Gosden CM. Lebers hereditary optic neuropathy and Kearns Sayre syndrome: mitochondrial DNA mutations. Surv Ophthalmol
Karpati G, Carpenter S, Larbisseau A, LaFontaine R. The Kearns Sayre syndrome. A multisystem disease7 with mitochondrial abnormality demonstrated in skeletal muscle and skin. J Neurol Sci
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]
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