Kearnssayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. Kearns sayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Kearnssayre syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. The patient, on further examination, showed ophthalmoplegia, bilateral ptosis figure 2 and pigmentary retinopathy figure 3. Kearnssayre syndrome kss is a multisystem mitochondrial disorder characterized by the invariant triad i onset before 20 years of age. Kearnssayre syndrome kss is a rare multisystemic disorder. The kearnssayre syndrome can be recognized when atypical pigmentary degeneration of the retina and external ophthalmoplegia occur before age 15. 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.
We report a case of a 40yearold man affected by the kearnssayre syndrome who underwent an elective laparoscopic cholecystectomy under general anaesthesia. Kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. 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. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. We are committed to sharing findings related to covid19 as quickly and safely as possible. Pdf background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Kearnssayre syndrome information page national institute of. We studied lactate and pyruvate concentrations in csf and blood of a patient with kearns sayre syndrome kss, 3 patients with ocular myopathy and 11 normal control subjects. We describe the management of general anaesthesia in this rare myopathy, with emphasis on the use of rocuronium as muscle blocking agent.
Skeletal muscle biopsy revealed presence of raggedred fibers, consistent with kearnssayre. Kearnssayre syndrome kss is a rare neuromuscular disorder. We have performed morphologic and biochemical studies in three pediatric cases of kearnssayre syndrome. Kearnssayre syndrome kss is a mitochondrial dna deletion syndrome that presents with profound cerebral folate deficiency and other features. Kearnssayre syndrome kss is a rare neuromuscular disease progressing to chronic. 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. Clinical manifestations and anesthetic management of. Pigmentary retinopathy in kearnssayre syndrome bmj case. Chronic progressive external ophthalmoplegia cpeo kearns. Skeletal muscle biopsy revealed presence of raggedred fibers, consistent with kearns sayre syndrome. Funduscopy revealed bilateral pigmentary retinopathy figure 2. Pdf kearnssayre syndrome kss is a rare neuromuscular disorder.
Kearnssayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement. Support and or advocacy organizations are one way to locate a specialist. Kearnssayre syndrome kss is a multisystem disorder caused by a. Kearns sayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Kearnssayre syndrome kss is a mitochondrial disorder resulti ng in multisystem dysfunction. The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. The rgh treatment was then discontinued at a final height of 163 cm. Kearnssayre syndrome kearnssayre syndrome is when the mitochondria in dna becomes abnormal, and does not do its proper fucntions.
Cardiac involvement in kearnssayre syndrome revista espanola. General anesthesia, kearns sayre syndrome, mitochondrial disease. As a net effect the duration of the pr interval may remain normal or may. Case reports in neurological medicine table of contents 2020. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Cardiac involvement in kearnssayre syndrome revista. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. 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. Separate treatment options for associated disorders e. It is characterized by a progressive paralysis of eye muscles, discoloration of retina, and cardiomyopathy. Kearns sayre syndrome kss is a mitochondrial disorder characterized by the emergence before age 20 of progressive external ophthalmoplegia, pigmentary. Kearns sayre syndrome kss is a mitochondrial cytopathy that was first described in 1958. 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. We will be providing unlimited waivers of publication charges for accepted articles related to covid19.
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. A 14yearold boy with kss underw ent external levator muscle resection for correction of ptosis. Kearns sayre syndrome an overview sciencedirect topics. 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 kss is a mitochondrial myopathy with a typical onset before 20 years of age. Kearnssayer syndrome definition of kearnssayer syndrome. Please note, for carriertargeted variant tests the approval status depends on whether the gene is in an approved genedx singlegene or. Kearnssayre syndrome symptoms, diagnosis, treatments and. Absence of clinical response to treatment with oral folinic acid. The clinical, neurophysiological and morphological findings suggest multisystem involvement.
Kearns sayre syndrome kss is a rare neuromuscular disorder. Mitochondrial dna deletions have been described in the kearnssayre syndrome kss and the pearsons marrowpancreas syndrome. General anaesthesia for laparoscopic cholecystectomy in a. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Mar 27, 2019 kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. 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 original characterisation as presented by kearns in 1958 comprised three core findings. 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. 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. 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. Jan 10, 2012 kearns sayre syndrome is form of rare mitochondrial cytopathy, first described by thomas p. Kearns and george pomeroy sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy.
A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. Kearnssayre syndrome archives mitochondrial disease news. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Mitochondrial dna deletions have been described in the kearns sayre syndrome kss and the pearsons marrowpancreas syndrome.
Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. Progressive increase of the mutated mitochondrial dna. We describe the images of a 27yearold man presenting with recurrent syncope due to complete heart block figure 1. Cardiac manifestations occur in 57% of patients with kearns sayre syndrome which also include syncopal attacks, heart failure and cardiac arrest. Other features include sensorineural deafness, impaired intellectual function, short stature, and endocrine and renal abnormalities. Kearnssayre syndrome kss is a rare neuromuscular disorder with onset. If you have problems viewing pdf files, download the latest version of adobe reader. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of kss patients. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. 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 genetic and rare diseases information. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. We have seen three typical cases of kearnssayre syndrome with progressive external ophthalmoplegia.
Kearnssayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Jul 05, 2019 kearns sayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. The ah interval tends to be short, and the infranodal conduction is often impaired figure 1217. 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 movement of the eyelid levator palpebrae, orbicularis oculi and eye extraocular muscles. Mar, 2020 kearns sayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome. Deletion in blood mitochondrial dna in kearnssayre syndrome. The three classic phenotypes caused by mtdna deletions are kearnssayre syndrome.
Kearns sayre syndrome kss, first described by kearns and sayre in 1958, is a rare mitochondrial myopathy characterized by a triad of chronic progressive external ophthalmoplegia, pigmentary retinopathy, and at least one of the followings. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal. Kearnssayre syndrome is caused by defects in mitochondria, which are. Kearnssayre syndrome is an incurable condition and symptomatic and supportive treatment is provided.
Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. The kearns sayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. A case of a complete kearnssayre syndrome, of early onset, associated with cerebral and cerebellar leukodystrophy and basal ganglia calcification is reported. Kearnssayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Kearnssayre syndrome kss is a rare mitochondrial cytopathy associated with the phenotypic triad of progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and complete heart block. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna, called mitochondrial. If a diagnosis of kearns sayre syndrome is suspected. Kearnssayre syndrome is characterised by the development of progressive external ophthalmoplegia, ptosis, and retinitis pigmentosa with onset before the age of 20.
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. The pigmentary changes may be subtle and are better appreciated on shortwave autofluorescence. Mitochondrial dna mtdna deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex i. Kearnssayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Kearns sayre syndrome kss a rare cause for cardiac pacing. Only a small number of cases have been reported in the literature, making this a very rare disorder. Our aim was to assess the clinical and neuroimaging outcomes of kss patients receiving folinic acid therapy. Kearnssayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. Induction was achieved with propofol and fentanyl, and general anaesthesia was maintained with. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. For language access assistance, contact the ncats public information officer. Ophthalmoplegia plus is a popular term, but some of us are convinced that one form of ophthalmoplegia is distinct from all others.
Kearnssayre syndrome kss new york clients tests displaying the status new york approved. To identify the clinical features of kearnssayre syndrome, an entity associated with this group of diseases, we evaluated cardiac structure and function in 5 patients with kearnssayre syndrome and followed the clinical course of these patients for 5 years. Diabetes mellitus in kearnssayre syndrome jama pediatrics. Kearns sayre 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. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. A novel mitochondrial dna deletion in a patient with kearnssayre. This means that kearns sayre syndrome, or a subtype of kearns sayre syndrome, affects less than 200,000 people in the us population. Hier halten wir verschiedene informationen fur sie zum download bereit. Ventricular arrhythmias and sudden death have been observed in patients with kearns sayre syndrome. Several endocrine disorders can be associated with kss. It presents before the child reaches the age of twenty. Kearnssayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. Kearns sayre syndrome is a rare condition characterized by the triad of external ophthalmoplegia, pigmentary retinopathy and progressive degeneration of cardiac conduction system. Kearnssayre syndrome symptoms, treatment, causes, prognosis.
Feb 07, 2011 kearns sayre syndrome is a rare condition characterized by the triad of external ophthalmoplegia, pigmentary retinopathy and progressive degeneration of cardiac conduction system. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and. Osgoodschlatter disease asthma recurrent otits media medications. 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. Kearnssayre syndrome kernz sar, mim530000 a form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss. Kearnssayre syndrome an overview sciencedirect topics. Kearns sayre syndrome diagnosed 5 years ago initially presented with fatigue and muscle weakness had ptosis eyelid surgery in 2010. Nerad emphasizes that there are two primary forms of ptosis. Manometric study in kearnssayre syndrome diseases of. 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. Kearns sayre syndrome kss is a rare multisystemic disorder.
The kearnssayre syndrome can be recognized when atypical pigmentary degeneration of the retina and external ophthalmoplegia occur before age 15 years. If you have problems viewing pdf files, download the latest version of adobe. Kearnssayre syndrome is an uncommon mitochondrial myopathy associated with progressive external ophthalmoplegia and pigmentary retinopathy. In chous electrocardiography in clinical practice sixth edition, 2008. Table of contents 2020 case reports in neurological. Kearnssayre syndrome information page national institute. Manometric study in kearnssayre syndrome diseases of the. Kearnssayre syndrome kss is a mitochondrial cytopathy that was first. Kearns sayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement.
Kearnssayre syndrome kss was first described in 1958 as a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, atrioventricular block and cerebellar ataxia. Classical triad of kearnssayre syndrome bmj case reports. This means that kearnssayre syndrome, or a subtype of kearnssayre syndrome, affects less than 200,000 people in the us population. Kearnssayre syndrome is form of rare mitochondrial cytopathy, first described by thomas p. Dec 17, 2014 while there may not be clinics devoted specifically to kearns sayre syndrome, there may be ways to locate specialists with experience with a range of neuromuscular disorders andor mitochondrial disorders including kearns sayre syndrome. Leucovorin 5 mg bid levocarnitine 330 mg tid loratidine 10. Followup of folinic acid supplementation for patients. Does kearns sayre syndrome affect any one specifically. It is a disease with a wide continuum of phenotypes.
Oct 20, 2008 kearns sayre syndrome kearns sayre syndrome is when the mitochondria in dna becomes abnormal, and does not do its proper fucntions. The myocardium is spared, but the cardiac conduction system is selectively affected. Kearns sayre syndrome nord national organization for rare. However, since it is a progressive disorder, the prognosis of kss is generally poor.
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