ABSTRACT
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.
Subject(s)
Child , Humans , Acidosis, Lactic , Biopsy , DNA, Mitochondrial , Epilepsy, Generalized , Lactic Acid , MELAS Syndrome , Mitochondrial Encephalomyopathies , Paresis , Point Mutation , SiblingsABSTRACT
We present a case of recurrent left atrial myxoma which occurred 7 years and 10 months after initial operation despite resection of originaltumor and adjacent atrial septum. This is the first case report of recurrence in Korea. Among the possible causes of recurrence, regrowth from pretumorous focus seems to be the most suggesting one in this case. Histopathologic findings of recurrent myxoma showed increased cellularity with active proliferation and nuclear hyperchromasia. These findings, together with the rapidity of regrowth, suggest that recurrent myxoma may have 'wilder' behavior. Prolonged postoperative observation is important, even if ample resection was done at the initial operation including atrial septum.