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

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

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

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

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder resulting in multi-system dysfunction. A 14-year-old boy with KSS underwent external levator muscle resection for correction of ptosis. There were no abnormalities on the pre-operative evaluation, except for low-grade heart block and ocular problems. General anesthesia was conducted with a minimum dose of thiopental sodium and sevoflurane under close monitoring, and a laryngeal mask was inserted without muscle relaxation. The surgery was uneventful; however, a careful approach was required during anesthesia because life-threatening complications may occur in patients with KSS.
Adolescent ; Anesthesia ; Anesthesia, General ; Heart Block ; Humans ; Kearns-Sayre Syndrome ; Laryngeal Masks ; Methyl Ethers ; Mitochondrial Diseases ; Muscle Relaxation ; Muscles ; Thiopental

Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns-Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.
Blepharoplasty ; Blepharoptosis* ; Humans ; Kearns-Sayre Syndrome* ; Middle Aged ; Mitochondrial Diseases ; Muscular Diseases ; Ophthalmoplegia, Chronic Progressive External ; Pathology ; Surgery, Plastic