[Acute course of Leigh syndrome with hypertrophic cardiomyopathy in a female infant].
A female infant already as a newborn progressively developed nutritional disturbances, metabolic acidosis, muscular hypotension and other neurologic changes, and on its 20th day of life suffered from an acute cardiac and respiratory insufficiency due to pericardial effusions causing cardiac tamponade. In spite of intensive care including mechanical ventilation the child died on the 58th day of life. Cardiac changes and cranial CT-scans are demonstrated. The characteristic symptomatology as well as blood chemistry led to the tentative diagnosis of Leigh's disease. Postmortem examination confirmed this diagnosis.
D000138:Acidosis / Q000209:etiology; D000596:Amino Acids / Q000097:blood; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002305:Cardiac Tamponade / Q000209:etiology; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology*; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis
D000596:Amino Acids; D007773:Lactates; D019344:Lactic Acid
Akuter Verlauf des Leigh-Syndroms mit hypertropher Kardiomyopathie bei einem weiblichen Säugling.