3.Vascular Hyperemia and Crossed Cerebellar Diaschisis in MELAS Patient Presented as Stroke-Like Episode and Seizure.
Dong Wook KIM ; Kee Hoon CHOI ; Hak Ju OH ; Miri KANG ; Chulho KIM ; Hui Chul CHOI ; Jong Hee SOHN
Journal of the Korean Neurological Association 2013;31(3):183-185
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
4.Vascular Hyperemia and Crossed Cerebellar Diaschisis in MELAS Patient Presented as Stroke-Like Episode and Seizure.
Dong Wook KIM ; Kee Hoon CHOI ; Hak Ju OH ; Miri KANG ; Chulho KIM ; Hui Chul CHOI ; Jong Hee SOHN
Journal of the Korean Neurological Association 2013;31(3):183-185
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
5.Anesthesia for renal transplantation in patient with mitochondrial encephalomyopathy: a case report
Philippine Journal of Anesthesiology 2009;21(1):27-32
Mitochondrial encephalomyopathies are genetic defects affecting the mitochondrial respiratory chain. This case report describes the anesthetic considerations for a patient with mitochondrial disease undergoing renal transplantation. Special risk such as malignant hyperthermia as well as plausible anesthetic technique are addressed. This is the case of a 36 year old female previously diagnosed to have end stage renal disease secondary to chronic glomerulonephritis and mitochondrial disease who presented for renal transplantation. Anesthetic technique was general endotracheal anesthesia under total intravenous anesthesia. To avoid a life threatening sequelae associated with mitochondrial diseases, vigilance towards possible complications was undertaken.
Human
;
Female
;
Adult
;
MITOCHONDRIAL ENCEPHALOMYOPATHIES
;
KIDNEY TRANSPLANTATION
;
KIDNEY FAILURE, CHRONIC
;
MITOCHONDRIAL MYOPATHIES
;
MITOCHONDRIAL DISEASES
6.A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome.
Jeong A KIM ; Jung Min AHN ; Young Mock LEE ; Hoon Chul KANG ; Joon Soo LEE ; Heung Dong KIM
Journal of the Korean Child Neurology Society 2011;19(3):266-271
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report a rare case of early onset MELAS patient confirmed by genetic analysis with Wolff-Parkinson-White syndrome.
Acidosis, Lactic
;
DNA, Mitochondrial
;
Humans
;
MELAS Syndrome
;
Mitochondrial Diseases
;
Mitochondrial Encephalomyopathies
;
Mitochondrial Myopathies
;
Paresis
;
Wolff-Parkinson-White Syndrome
7.Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) in a two-year-old Filipino child
Abacan Mary Ann R. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):88-92
MELAS is a mitochondrial respiratory chain disorder characterized by progressive neurodegeneration associated with stroke-like episode, increased plasma lactate levels and distinctive findings on neuroimaging studies. Hence we onset of right-sided hemiplegia accompanied by lactic acidosis and CT-Scan findings of diffuse hypodensity of the cerebral white matter at the time of the stroke-like episode. The diagnosis was confirmed by mutation analysis on blood and hair which showed the typical mtDNA A3243G mutation. This is the first local report of a confirmed case of MELAS.
Human
;
Female
;
Child Preschool
;
MELAS SYNDROME
;
MUSCULOSKELETAL DISEASES
;
MUSCULAR DISEASES
;
MITOCHONDRIAL MYOPATHIES
;
MITOCHONDRIAL ENCEPHALOMYOPATHIES
8.Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation.
Yue HOU ; Xu Tong ZHAO ; Zhi Ying XIE ; Yun YUAN ; Zhao Xia WANG
Journal of Peking University(Health Sciences) 2020;52(5):851-855
OBJECTIVE:
Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation.
METHODS:
The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed.
RESULTS:
This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy.
CONCLUSION
The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.
Acidosis, Lactic
;
Adult
;
Child
;
DNA, Mitochondrial/genetics*
;
Humans
;
Male
;
Mitochondrial Encephalomyopathies
;
Mutation
;
Stroke
;
Young Adult
9.The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Min Seong BAEK ; Se Hoon KIM ; Young Mock LEE
Yonsei Medical Journal 2019;60(1):98-105
PURPOSE: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important in the diagnosis of MELAS. The mitochondrial DNA (mtDNA) 3243A>G mutation is found in 80% of MELAS patients. Nevertheless, molecular analysis alone may be insufficient to diagnose MELAS because of mtDNA heteroplasmy. This study aimed to evaluate whether muscle biopsy is useful in MELAS patients as an initial diagnostic evaluation method. MATERIALS AND METHODS: The medical records of patients who were diagnosed with MELAS at the Department of Pediatrics of Gangnam Severance Hospital between January 2006 and January 2017 were reviewed. The study population included 12 patients. They were divided into two subgroups according to whether the results of muscle pathology were in accordance with mitochondrial diseases. Clinical variables, diagnostic evaluations, and clinical outcomes were compared between the two groups. RESULTS: Of the 12 patients, seven were muscle pathology-positive for mitochondrial disease. No statistically significant difference in clinical data was observed between the groups that were muscle pathology-positive and muscle pathology-negative for mtDNA 3243A>G mutation. Additionally, the patients with weakness as the initial symptom were all muscle pathology-positive. CONCLUSION: The usefulness of muscle biopsy appears to be limited to an initial confirmative diagnostic evaluation of MELAS. Muscle biopsy can provide some information in MELAS patients with weakness not confirmed by genetic testing.
Biopsy*
;
Diagnosis
;
DNA, Mitochondrial
;
Genetic Testing
;
Humans
;
Medical Records
;
MELAS Syndrome*
;
Methods
;
Mitochondrial Diseases
;
Mitochondrial Encephalomyopathies*
;
Molecular Biology
;
Pathology
;
Pediatrics
10.A Two Cases of MELAS in Siblings.
Yul Yi YEON ; Byung Jun CHOI ; Young Hoon KIM ; Jong Wan KIM ; Sung Sup PARK ; Je Geun JI ; Kyung Tai WHANG
Journal of the Korean Child Neurology Society 1997;5(1):138-146
MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short stature and either a focal or generalized seizure disorder. Ultimately, the patient presents with an acute hemiparesis that can alternate from side to side. In this article, we report the MELAS in siblings having point mutation in the mitochondrial DNA with an A to G transition at the 3,243rd position. MELAS is recognized as one of the several distinct syndromes containing cerebral infarct. And, mitochondrial DNA analyses, serum lactate level, and muscle biopsy are diagnostic clue of this syndrome.
Acidosis, Lactic
;
Biopsy
;
Child
;
DNA, Mitochondrial
;
Epilepsy, Generalized
;
Humans
;
Lactic Acid
;
MELAS Syndrome*
;
Mitochondrial Encephalomyopathies
;
Paresis
;
Point Mutation
;
Siblings*