Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns
A 25-kg, 14-year-old boy, a known case of Coffin Lowry syndrome, presented with high myopia and retinal detachment associated vision deterioration. Vitreo-retinal surgery was scheduled. At 2 years of age, he was diagnosed with Coffin Lowry syndrome which was confirmed by genetic analysis. He was born at term without any history of birth asphyxia. Since the age of 3 months, he had been suffering from recurrent chest infections requiring frequent hospital admissions and occasional mechanical ventilation. Severe mitral regurgitation was also diagnosed, and by 3 years, he developed dilated cardiomyopathy (DCM) [] with heart failure. Patient was on oral furosemide and digoxin therapy for last 10 years but had no sign of failure at presentation. Patient developed hypothyroidism at infancy and received thyroxine for 13 years. The thyroxine had been tapered off 1 year back, and patient was clinically and biochemically euthyroid since then. At the age of 4 months, he developed recurrent myoclonic seizures for which combination of multiple anti-epileptics was administered, but they were stopped after he remained asymptomatic for a 5-year period. He complained of severe reflux gastritis and vomiting a year back for which daily ranitidine and metoclopramide were prescribed. With growth, he developed scoliosis. It was not possible to communicate with him directly due to his mental status; however, he seemed to reply appropriately to his father. Since Coffin Lowry syndrome is an X-linked dominant trait, we tried to explore for similar family history, but nobody from the maternal or paternal lineage was found to possess any clinical manifestations.\nOn examination, an abnormal facies was evident with thick everted lips, increased intercanthal distance, and frontal bossing. Scoliosis and pectus carinatum deformity were present. Pitting pedal edema till ankle was present in both the feet. On auscultation, a crescendo murmur was heard in cardiac apical region. The air entry was normal in both lung fields and there were no added sounds.\nThe airway was Modified Mallampati Class III, and there was a large tongue, high-arched palate, receding mandible, and buckteeth. Mouth opening and neck movements were within normal ranges. Hemogram, liver, renal, and thyroid function tests were normal. Echocardiography revealed mild mitral regurgitation (MR) with thickened mitral leaflets and severe pulmonary artery hypertension (PAH) with mean pressure of 80 mmHg, which could not alone be attributed to the degree of MR seen on 2D echocardiography. A Cobb's angle of 42° without any cord involvement was seen on magnetic resonance image spine. Room air oxygen saturation was 99% with pulse rate of 102/min.\nWritten informed paternal consent was obtained and the child was allowed water till 2 h prior to surgery. In view of history of heart failure, a conservative approach toward preoperative fluids was adopted and no fluids were administered during the fasting period. Patient was advised to continue ranitidine, metoclopramide, furosemide, and digoxin. After ensuring normal electrolyte values in the morning, oral midazolam syrup 12 mg was given half an hour prior to shifting to operating room.\nPatient was shifted to the operating room, along with his father to keep him calm. After connecting standard monitoring, anesthesia was induced inhalationally with sevoflurane in 100% oxygen. While maintaining his spontaneous ventilation, intravenous (IV) access was obtained and left radial artery was cannulated with a 22-G cannula. Fentanyl 50 mcg and atracurium 10 mg were administered IV after which the child was hand ventilated ensuring low inspiratory pressure. No Positive End Expiratory Pressure (PEEP)was used. Confirming adequate depth of anesthesia, a 2.5 size proseal laryngeal mask airway (LMA) was inserted and its placement confirmed. Pressure-controlled ventilation without PEEP was used avoiding hypercarbia throughout the procedure. Anesthesia was maintained on oxygen, air, and sevoflurane. During surgery (duration 70 min), he received 100 ml of Ringer lactate and another 20 mcg of fentanyl. At the end of surgery, neuromuscular blockade was reversed, and once the patient was fully awake, the LMA was removed. Patient was shifted to the intensive care unit (ICU) for postoperative monitoring. The postoperative course was uneventful. Ketorolac was administered IV for analgesia and fentanyl IV was used as rescue analgesic. Patient was shifted to the ward the next day.