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Anesthesia for Surgery in a Pediatric Patient with Familial Recurrent Rhabdomyolysis/Myoglobinuria Secondary to LPIN1 Gene Mutation

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Anesthesia for Surgery in a Pediatric Patient with Familial Recurrent Rhabdomyolysis/Myoglobinuria Secondary to LPIN1 Gene Mutation [GA4-65] Anesthesia for surgery in a pediatric patient with familial recurrent rhabdomyolysis/myoglobinuria secondary to LPIN1 gene mutation Dutoit A, Berger S, Cure J, De Armendi A University of Oklahoma Health Science Center , Oklahoma City , OK, USA Background: Familial recurrent acute rhabdomyolysis/myoglobinuria, LPIN1 gene type, is a rare, newly recognized genetic deficiency in lipin-1 that can lead to life-threatening episodes of rhabdomyolysis triggered by acute illness, low caloric intake, fasting, or anesthesia (1). Presenting symptoms include muscle weakness, tenderness, pain, and/or swelling, refusal to walk or move, or dark urine. There are no reports in the anesthesia literature regarding management of these patients. Case Report: We report the anesthetic management of a 5 year old, 17.5 kg male presenting for adenoidectomy and bilateral myringotomy and tube placement with a past medical history significant for LPIN1 gene mutation causing recurrent rhabdomyolysis/ myoglobinuria. Genetic diagnosis was established 6 months prior to surgery surrounding an upper respiratory illness associated with severe muscle pain and CK levels > 200,000 units/L. Patient was admitted the evening before surgery for IV placement and continuous glucose-containing fluids overnight (D51/2NS with 20 KCl at 54 ml/hr). Patient was NPO to solids after midnight and drank apple juice at 545 am. All vital signs including temperature were stable. Total intravenous anesthesia was initiated at 745 am with midazolam 1 mg, fentanyl 20 mcg bolus, propofol 40 mg bolus with 200 mcg/kg/min infusion, and remifentanil 0.2 mcg/kg/min. Creatine kinase level was drawn intraoperatively and a second peripheral IV was placed. Surgery was initiated and completed without complication (duration 24 minutes). A second blood sample for CK level was normal in the PACU. The patient was admitted overnight to monitor hydration, intake, urine output and signs/symptoms of rhabdomyolysis or myoglobinuria. The patient remained symptom-free perioperatively and was discharged home on the day following surgery. Discussion: Recurrent myoglobinuria in childhood is a rare and life threatening condition that has been attributed to mitochondrial fatty acid beta oxidation defects, mitochondrial respiratory chain deficiency, or inborn errors of glycogenolysis. Recently, defects in the LPIN1 gene have been implicated as a cause of unexplained myoglobinuria in up to 59% of these cases (2,3). Michot et al. observed that anesthesia and/or the fasting state were implicated as precipitating factors in 7 out of 17 cases of rhabdomyolysis in early infancy associated with LPIN1 gene mutations. Current genetic guidelines emphasize avoidance of dehydration, hypoglycemia, and temperature disturbances as well as prompt treatment of acute illness. There are no reports in the literature regarding anesthetic management. We present an anesthetic approach to the management of a patient with this rare disease that went without complication. References: 1. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/268200 2. Zeharia A, et al. "Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood." The American Journal of Human Genetics 83.4 (2008): 489-94. 3. Michot, Caroline, et al. "LPIN1 Gene Mutations: a Major Cause of Severe Rhabdomyolysis in Early Childhood." Human Mutation 31.7 (2010): E1564-1573. .
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