NM-195
Anesthesia for carnitine - acyl carnitine translocase deficiency
1Syed F, 1Turner H, 2AlGhamdi F, 1Tumin D, 1Tobias J, 1Wani T
1Nationwide Children's Hospital, Columbus, OH, United states; 2King Fahad Medical City, Riyadh, Riyadh, Saudi arabia
INTRODUCTION: Carnitine acyl-carnitine translocase (CACT) deficiency is a rare mitochondrial fatty acid oxidation disorder. Symptoms include neurological and cardiovascular abnormalities, skeletal muscle damage, and liver dysfunction, emerging in infancy with a high mortality rate. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and an abnormal acylcarnitine profile, with elevated long-chain acylcarnitines. Clinical presentation may include lactic acidosis, hypoglycemia, hyperammonemia, hepatomegaly with elevated liver enzymes, reduced plasma carnitine levels and skeletal muscle weakness. We present our anesthetic management of an older patient with CACT deficiency.
CASE REPORT: A 10 yr old girl (weight 28.8 kg) presented for left pelvic osteotomy, bilateral varus derotational osteotomies, hip arthrogram and adductor releases. Her medical history included CACT deficiency, hypoxic ischemic encephalopathy, quadriplegic cerebral palsy, intractable epilepsy, cortical blindness, developmental delay, duplex kidney, glutaric aciduria type II, and gastroesophageal reflux disease. Surgical history included corpus callotomy resection, multiple endoscopies, Nissen fundoplication, tonsillectomy and adenoidectomy. On preoperative examination, she had contractures and increased muscle tone. Preoperative laboratory evaluations of electrolytes, coagulation profile, and blood glucose were normal. Given her CACT deficiency, she was admitted a day before surgery to have a PICC line placed and receive tube feeds overnight. Anesthesia was planned with special concerns for difficult vascular access, blood product use, and invasive monitoring. Anesthesia was induced with 100 mg of IV propofol and maintained with isoflurane. A fentanyl-only epidural was chosen to reduce the risk of hypotension. IV fluids included albumin 5% and D5% lactated Ringers (changed to lactated Ringers due to increased intraoperative blood glucose). Intraoperatively, heart rate dropped below 50 beats/min twice but blood pressure remained stable. There were no intraoperative complications. The procedure lasted 8 hours. Estimated blood loss was 150 mL. Recovery unit stay was uneventful. Postoperatively, the patient was breathing spontaneously and the trachea was extubated; subsequently, she did not exhibit behaviors of pain. The patient was transferred to the ICU for overnight observation and discharged on post-operative day 7.
DISCUSSION: Patients with CACT deficiency warrant preoperative evaluation of neurological status, cardiovascular abnormalities, lipid profile, acylcarnitine profile, liver enzymes, coagulation profiles and blood levels of ammonia and glucose. Fasting guidelines need to be modified, preoperative continuous IV dextrose infusion should be used to maintain normal glucose levels. During prolonged surgery, IV fluids containing dextrose should be used with regular intraoperative blood glucose checks. In our patient, a spike in blood glucose after dextrose administration led to its discontinuation.
REFERENCES:
1. Vatanavicharn N et al. Brain Dev 2015;37:698-703
2. Niezgoda J et al. Paediatr Anaesth 2013;23:785-93
Top
