External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the kearnssayre syndrome. Kearns sayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2, 3. Jan 29, 2019 a 19yearold man presented 6 months postimplantation of permanent pacemaker for complete heart block with bilateral nonfatigable symmetric ptosis, diminished levator superioris function, and symmetric ophthalmoplegia figure 1. Usually, these problems begin in childhood or adolescence. Kearns sayre syndrome is caused by defects in mitochondria, which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. The triad of external opthalmoplegia, pigmentary retinopathy, and cardiac conduction defects are sufficient to make a confident diagnosis of this rare entity. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of kearnssayre syndrome. Kearnssayre syndrome presenting as isolated growth failure.
The rare kearns sayre syndrome mim 530000, also known as oculocraniosomatic disease or oculocraniosomatic neuromuscular disease with ragged red fibers, is characterized by myopathic abnormalities leading to ophthalmoplegia and progressive weakness in association with several endocrine abnormalities, including. Kearnssayre syndrome archives mitochondrial disease news. Ventricular arrhythmias and sudden death have been observed in patients with kearns sayre syndrome. Apr 21, 2020 kearns sayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis. Pdf background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958.
Kearnssayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Kearnssayre syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. Kearns sayre syndrome kss is a rare neuromuscular disorder. Other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements due to problems in the part of the brain called the cerebellum. Kearnssayre syndrome kss is a rare multisystemic disorder. We have seen three typical cases of kearnssayre syndrome with progressive external ophthalmoplegia. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Only a small number of cases have been reported in the literature, making this a very rare disorder. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna called mitochondrial dna mtdna. A 47yearold woman with kearnssayre syndrome kss and an implanted pacemaker for complete heart block was admitted to the intensive care unit following a cardiac arrest due to ventricular.
Kearns sayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Given the radiological findings supporting the clinical suspicion of kearnssayre syndrome, we requested a blood mitochondrial dna study, which detected a single 6. Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. Enzymatic analysis revealed a deficiency of complex ii of the. Related information on causes of kearnssayre syndrome. Mar 27, 2019 kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Cardiomyopathy, external ophthalmoplegia, heart block, kearnssayre syndrome. Kearnssayre syndrome kss is a mitochondrial disorder characterised by onset before the age of 20 years, progressive external ophthalmoplegia, and pigmentary retinopathy, accompanied by either cardiac conduction defects, elevated cerebrospinal fluid protein or cerebellar ataxia. Ventricular arrhythmias and sudden death have been observed in. Kearnssayre syndrome bhatnagar kr, gupta d med j dy patil univ. A 25yearold woman with kearns sayre syndrome kss had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. People with kearns sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis. Oct 22, 2018 kearns sayre syndrome is an incurable condition and symptomatic and supportive treatment is provided.
Kearnssayre syndrome a mitochondrial disease characterized by chronic progressive external ophthalmoplegiaparalysis of ocular muscles and mitochondrial myopathy combined with retinal deterioration, heart disease, hearing loss, dm, renal disease see mitochondrial disease. The rare kearnssayre syndrome mim 530000, also known as oculocraniosomatic disease or oculocraniosomatic neuromuscular disease with ragged red fibers, is characterized by myopathic abnormalities leading to ophthalmoplegia and progressive weakness in association with several endocrine abnormalities, including. Kearnssayre syndrome symptoms, diagnosis, treatments and. Dec 17, 2014 kearns sayre syndrome kss is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy a saltandpepper pigmentation in the retina that can affect vision, but often leaves it intact, and progressive external ophthalmoplegia peo. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Kearns sayre syndrome an overview sciencedirect topics. The kearns sayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age.
Kearnssayre syndrome information page national institute. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for 4 years who was eventually diagnosed with kss. Kearnssayre syndrome kss is a rare neuromuscular disorder. Kearns sayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Diabetes mellitus in kearnssayre syndrome jama pediatrics.
A 47yearold woman with kearns sayre syndrome kss and an implanted pacemaker for complete heart block was admitted to the intensive care unit following a cardiac arrest due to ventricular. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2. Sayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2, 3. Cardiomyopathy, external ophthalmoplegia, heart block, kearns sayre syndrome.
Kearnssayre syndrome kss, oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopathy with a typical onset before 20 years of age. Kss is a more severe syndromic variant of chronic progressive external ophthalmoplegia abbreviated cpeo, a syndrome that is characterized by isolated involvement of the muscles controlling. Kearnssayre syndrome symptoms, treatment, causes, prognosis. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or. Kearnssayre syndrome caused by defective r1p53r2 assembly. Autosomal dominant kearnssayre syndrome ophthalmology. Kearnssayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Kearnssayre syndrome kss is a rare mitochondrial cytopathy. Pdf kearnssayre syndrome kss is a rare neuromuscular disorder. Kearns sayre syndrome kss is a rare genetic condition caused by a problem with a persons mitochondria, components found in all the bodys cells.
The kearnssayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. This means that kearnssayre syndrome, or a subtype of kearnssayre syndrome, affects less than 200,000 people in the us population. It is a disease with a wide continuum of phenotypes. The triad of external opthalmoplegia, pigmentary retinopathy, and cardiac conduction defects are sufficient to. Wereportapatientwithkearns sayre syndrome who presented with congestive cardiac. Kearns sayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. If a diagnosis of kearns sayre syndrome is suspected. Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of kearns sayre syndrome. Kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Chronic progressive external ophthalmoplegia cpeo kearns. A 25yearold woman with kearnssayre syndrome kss had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy.
Jan 28, 2020 kearnssayre syndrome kss is a rare genetic condition caused by a problem with a persons mitochondria, components found in all the bodys cells. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. Classical triad of kearnssayre syndrome bmj case reports. This means that kearns sayre syndrome, or a subtype of kearns sayre syndrome, affects less than 200,000 people in the us population. Classified as a mitochondrial cytopathy, the primary pathology of this syndrome is a disturbance of mitochondrial dna, which codes for the proteins required for the respiratory chain reaction. A 19yearold man presented 6 months postimplantation of permanent pacemaker for complete heart block with bilateral nonfatigable symmetric ptosis, diminished levator superioris function, and symmetric ophthalmoplegia figure 1. Kearnssayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Kearns sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Kearns sayre syndrome kss is a rare multisystemic disorder. Does kearns sayre syndrome affect any one specifically. Objective to report the rrm2b mutation frequency in adults with multiple mtdna deletions and examine rnr assembly in a patient with kearnssayre syndrome kss caused by two novel rrm2b mutations. However, since it is a progressive disorder, the prognosis of kss is generally poor. Skeletal muscle biopsy revealed presence of raggedred fibers, consistent with kearns sayre syndrome.
Skeletal muscle biopsy revealed presence of raggedred fibers, consistent with kearnssayre. Pronunciation of kearns sayre syndrome with 2 audio pronunciations, 1 meaning, 10 translations and more for kearns sayre syndrome. Funduscopy revealed bilateral pigmentary retinopathy figure 2. Kearns sayre syndrome nord national organization for rare. Pigmentary retinopathy in kearnssayre syndrome bmj case. Melas syndrome mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke is a progressive neurodegenerative disorder caused by mutations in mitochondrial dna.
Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. In their report in the june 1977 issue of the journal of a patient with kearnssayre syndrome, seigel et al1 mention diabetes mellitus as a previously undescribed accompaniment of this condition. Enable javascript to view the expandcollapse boxes. The importance of rnr dysfunction in adult mitochondrial disease is unclear. It is also often called an oculocraniosomatic neuromuscular disease with ragged red fibers, and is usually caused by abnormalities that appear in the dna of mitochondria. Marked heterogeneity and various types of inheritance have been observed. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features. Kearnssayre syndrome may be associated with pigmentary retinopathy similar to that seen in patients with retinitis pigmentosa. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death.
Kearns sayre syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Kearns sayre syndrome nord national organization for. Wereportapatientwithkearnssayre syndrome who presented with congestive cardiac. Kearnssayre syndrome kss exact prevalence is unknown, but has been estimated at 1125,000. We report the case of an 18yearold romanian man with short stature, external.
In kearns sayre syndrome, the prophylactic implantation of a pacemaker has been advocated when distal conduction disease is evident although the severity that warrants pacing is not clear. The pigmentary changes may be subtle and are better appreciated on shortwave autofluorescence. Our database lists the following as having kearnssayre syndrome as a symptom of that condition. Kearnssayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Kearnssayre syndrome kss is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy a saltandpepper pigmentation in the retina that can affect vision, but often leaves it intact, and progressive external ophthalmoplegia peo. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal. Kearnssayre syndrome an overview sciencedirect topics. Kearns sayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement. Mr of kearns sayre syndrome in 1958, kearns and sayre 1 reported two cases of the clinical triad of progressive external ophthalmoplegia, retinal pigmentary degeneration, and complete heart block. Mr of kearnssayre syndrome in 1958, kearns and sayre 1 reported two cases of the clinical triad of progressive external ophthalmoplegia, retinal pigmentary degeneration, and complete heart block. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome.
Kearnssayer syndrome definition of kearnssayer syndrome. The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Nerad emphasizes that there are two primary forms of ptosis. Kearnssayre syndrome is one of the mitochondrial encephalomyopathies. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Given the radiological findings supporting the clinical suspicion of kearns sayre syndrome, we requested a blood mitochondrial dna study, which detected a single 6. Kearnssayre syndrome genetic and rare diseases information. Kearnssayre syndrome definition of kearnssayre syndrome. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease. Kearnssayre causes eye and vision problems, and it can lead to other symptoms, like heart rhythm issues. Two studies have provided congruent information on the prevalence of largescale mitochondrial deletions in the adult population.
An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. Feb 18, 20 failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Mitochondria are the structures inside of our cells that are largely responsible for producing the energy that cells need to do their work. Kearnssayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. Kearnssayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement. It is the result of abnormalities in the dna of mitochondria small rodlike structures found in every cell of the body that produce the energy that drives cellular functions. Kearnssayre syndrome is an incurable condition and symptomatic and supportive treatment is provided. Kearnssayre syndrome kss new york clients tests displaying the status new york approved. Kearnssayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. Complex 2 mitochondrial respiratory chain deficiency. Jul 05, 2019 kearns sayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. In kearnssayre syndrome, the prophylactic implantation of a pacemaker has been advocated when distal conduction disease is evident although the severity that warrants pacing is not clear. We report a case of a 14yearold boy diagnosed and treated as.
295 385 1087 426 1592 1602 1102 978 355 1581 736 1113 1236 324 1114 245 1227 991 1174 1238 565 1038 622 207 686 452 240 918 1168 112 713 1576 1006 1233 186 1442 817 92 267 805 136