Adolescent ; Humans ; Kearns-Sayre Syndrome ; Male

Humans ; Kearns-Sayre Syndrome ; diagnosis ; genetics

Cognition ; physiology ; Disease Management ; Humans ; Kearns-Sayre Syndrome ; diagnosis ; physiopathology

Adolescent ; Humans ; Kearns-Sayre Syndrome ; surgery ; Male ; Nerve Block ; methods

KearnsSayre syndrome (KSS) is a mitochondrial DNA disorder characterized by the onset before age 20 years, progressive external opthalomoplegia, atypical retinal pigmentation and cardiac conduction disturbance. This report describes a 24-year-old woman who experienced syncope due to complete atrioventricular block complicated by KSS. At 12 years old, she was diagnosed KSS. The consecutive change of EKG shows typical progression of cardiac conduction disturbance of KSS. She was successfully treated with implantation of a pacemaker.
Atrioventricular Block* ; Child ; DNA, Mitochondrial ; Electrocardiography ; Female ; Humans ; Kearns-Sayre Syndrome ; Pigmentation ; Retinaldehyde ; Syncope ; Young Adult

External ophthalmoplegia and ptosis are common manifestations of mitochondrial cytopathy, such as chronic progressive external ophthalmoplegia (CPEO). However, these symptoms and signs may also be presenting features of myasthenia gravis (MG). There are a few reports of CPEO with elevated acetylcholine receptor antibody (AchR-Ab). We report a case of AD-type CPEO with elevated acetylcholine receptor binding antibody. We confirmed a mutation on the SLC25A4 gene by molecular analysis.
Acetylcholine ; Kearns-Sayre Syndrome ; Mitochondrial Myopathies ; Myasthenia Gravis ; Ophthalmoplegia ; Ophthalmoplegia, Chronic Progressive External

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Cognition ; physiology ; DNA, Mitochondrial ; genetics ; Genetic Testing ; Humans ; Kearns-Sayre Syndrome ; diagnosis ; genetics ; physiopathology ; Point Mutation ; genetics

Chronic progressive ophthalmoplegia(CPEO) is a vague clinical entity, which needs further understanding and there is still intense controversy about the classification on the Syndrome of Progressive External Ophthalmoplegia. In our country two cases of similar disease were reported with the title of oculocraniosomatic disease and CPEO with ragged red fiber. Authors experienced a 39 year-old woman with typical Kearns-Sayre syndrome(KSS) and a 44 year-old man with ophthalmoplegia plus syndrome. The case with Kearns-Sayre syndrome had an invariable triad of 1) chronic progressive external ophthalmoplegia and onset before 20 years of age, 2) retinal pigmentary degeneration of salt & pepper pattern and 3)mitochondrial abnormalities with additional findings of increased cerebrospinal fluid protein and cerebellar ataxia rhe other case with ophthalmoplegia plus with ragged red fiber syndrome had similar symptomatology to Kearns-Sayre syndrome except for typical retinal pigmentary degeneration. Both cases showed electromyographic myopathic findings and typical histopathologic features as ragged red fiber and paracrystalline mitochondrial aggregations. Therefore authors would say that these clinical different phenotypes of mitochondrial abnormality should be understood in detail by the biochemical investigations.
Adult ; Cerebellar Ataxia ; Cerebrospinal Fluid ; Classification ; Female ; Humans ; Kearns-Sayre Syndrome ; Ophthalmoplegia* ; Ophthalmoplegia, Chronic Progressive External ; Phenotype ; Retinaldehyde