Case 2 History ---- This patient was an 18 year old woman with a history of mitochondrial encephalomyopathy of the MELAS type with dilated cardiomyopathy, diabetes mellitus and prior stroke in the distribution of the left posterior cerebral artery. The patient had showed delayed motor and cognitive development; at age 5 she was found to have short stature, growth hormone deficiency, myopia, sensorineural hearing loss and diffuse weakness. At 15 years of age she presented with frank cardiac failure and evaluation revealed a dilated cardiomyopathy. Extensive work-up including muscle biopsy, lactate levels, mitochondrial enzyme analysis and chromosome analysis established the diagnosis of MELAS syndrome. She was treated with carnitine transferase and thiamine with Digoxin and Lasix for her cardiomyopathy which subsequently improved. At the age of 17 she presented with a right hemiparesis and right central 7th nerve palsy. A CT scan at that time revealed evidence of a left parietal infarct. Also, at that time she was diagnosed with diabetes mellitus and began insulin treatment. At her terminal admission she had a 4 week history of increased weakness, increased lethargy, difficult to control diabetes and approximately 1 week history of decreased responsiveness. On the night before admission the patient was notably worsened with marked lethargy and was not using her arms or legs in her usual fashion. Early the following morning the patient was noted to be pulseless, apneic and cyanotic. A code was called and the patient was resuscitated with mask ventilation and CPR. She continued to have a high CVP's into the mid 20's with systemic blood pressures in the low 70's and was maintained on pressors. The patient continued to deteriorate clinically and developed renal failure secondary to her congestive heart failure. Neurologically she remained mainly unchanged and would open her eyes spontaneously for only brief durations and did not obey commands but moved all her extremities spontaneously. Her cardiac function worsened and it was decided to remove life support after which the patient expired 4 days after cardiac arrest and admission.
