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*

Abnomalities in the production and transport of airway secretions play an important role in the pathophysiology of asthma. Segmental atelectasis as a complication of asthma, is relatively common in children. On the other hand, massive atelectasis such as the collapse of one lung is a very rare occurence. We report a seven-year-old male asthmatic patient with right lung collapse caused by mucoid impaction. Fourteen months before admission, the patient experiened bronchopneumonia with left unilateral lung collapse due to mucus plugging and recovered by bronchoscopic removal. The clinical findings, chest X-ray and chest CT suggested the collapse of the right lung was caused by mucus plugging. Fiberoptic bronchoscopy revealed the obstruction of the right main bronchus due to thick mucoid impaction. The histologic finding of mucoid material removed by brochoscopy showed only eosinophil clusters. In addition to fibroptic broncoscopic removal of mucoid secretions, hydration, chest physiotherapy, brochodilators and steroids, the patient received tracheostomy because of difficulty in sputum expectoration, poor improvement of clinical symptoms and chest X-ray findings, with rapid improvements. This case showed that early aspiration of bronchial mucoid secretions by bronchoscopy and tracheostomy was very critical, without waiting for a further deterioration of respiratory function.
Asthma ; Bronchi ; Bronchopneumonia ; Bronchoscopy ; Child* ; Eosinophils ; Hand ; Humans ; Lung* ; Male ; Mucus ; Pulmonary Atelectasis* ; Sputum ; Steroids ; Thorax ; Tomography, X-Ray Computed ; Tracheostomy