Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A mitochondrial tRNA mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). We report a 30 year-old female patient of MELAS, diagnosed 5 years ago, who presented herself to our ENT outpatient department because of her bilateral tinnitus and progressive hearing impairment since 4 years ago. Two sequential pure tone audiograms showed bilateral symmetrical progressive sensorineural hearing loss, especially in the high frequency area in 1993 and 1996. The pure tone average was R-45 dB, L-47 dB in 1993 and R-62 dB, L-67 dB in 1996. Hearing loss is an important feature in MELAS syndrome and reported to be seen in about 30% of patients. It is often the first clinical symptom, too. In any case, mitochondrial cytopathies need to be considered by the otologist in forming a diagnosis of sensorineural hearing loss (SNHL), particularly in cases, which present adult-onset progressive hearing loss and neurologic symptoms before 50 years of age.
 ...
PMID:Sensorineural hearing loss in MELAS syndrome--case report. 978 Jun 3

A 6-year-old boy with a rare mitochondrial disease (MELAS: mitochondrial encephalopathy, lactic acidosis, stroke-like episodes) was presented to undergo adenoid resection and bilateral paracentesis. ENT surgery was performed without complications under general anaesthesia using propofol, fentanyl, and ventilation with nitrous oxide and oxygen. Routine intraoperative monitoring (ECG, noninvasive blood pressure, oxymetry and capnometry) was supplemented by frequent body temperature measurements and repeated laboratory analysis of venous blood gases, lactate, and glucose. Clinically, the postoperative course was uneventful and the boy was discharged from hospital on the first postoperative day. Signs or symptoms of malignant hyperthermia never occurred. Laboratory analysis only showed a remarkable serum lactate elevation postoperatively (6 mmol/l) which decreased on the first postoperative day (3.7 mmol/l). The present anaesthesiologic experiences with MELAS-syndrome are limited, and recommendations are mainly based on case reports. Careful preoperative physical examination with special regard to all available medical records, and anaesthetic management comparable with that in malignant hyperthermia susceptible resulted in an uneventful course in our patient. Pathogenetic aspects of mitochondrial diseases focussing on anaesthetic considerations are briefly discussed.
 ...
PMID:[Anesthesia in mitochondrial encephalomyopathies]. 1149 20