Avneep Aggarwal, MD
Attending Physician
Cleveland Clinic, United States
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Title: Rett syndrome: It’s the little things that matter most
Case Report Body
Introduction: Rett syndrome is a hereditary neurological disease characterized by progressive neurological symptoms. Respiratory failure is a known anesthetic complication associated with Rett syndrome. We will discuss the postoperative respiratory failure after a minor procedure under anesthesia and consequent end of life care decisions.
Description: A 49 year-old female with PMH of Rett syndrome and developmental delay underwent biopsy of chronic perineal wound under anesthesia. She was nonverbal, wheelchair bound and non-ambulatory at baseline. She had an uneventful intraoperative course and arrived to the PACU on 2 liters of Oxygen. She had frequent desaturation events in PACU and suctioning didn’t improve mucous clearance. CXR showed diffuse opacification of left lung suspicious for mucous plugging vs aspiration and she was admitted to ICU. Her postoperative course got further complicated by a seizure associated with hypoxia necessitating intubation for airway protection. She was extubated three days later however continued to have persistently high oxygen requirement with HFNC and NIPPV at 100% FiO2. Intubation and possible tracheostomy for long term were discussed but family decided against it. Supportive therapy was continued with inability to wean her oxygen requirement. After extensive discussion on multiple occasions and exhaustive medical care for 7 days, family decided that palliative care at home was the right decision for the patient. She was transferred to home with palliative care and died ten days later.
Discussion: Rett syndrome is a hereditary neurological disease. It is characterized by progressive neurological symptoms including hypotonia, seizures, autistic behavior and abnormal breathing. The average age of survival is 24 years and death is usually caused by cardiopulmonary factors. Advanced age in Rett syndrome appears to correlate with respiratory difficulties. Although no conclusions can be made from one case report, it is worth exercising caution that no procedure is minor in these patients. An extensive conversation of risk vs benefit prior to the procedure is crucial especially in an adult patient with Rett syndrome. Clear communication with family with emphasis on realistic options and an early introduction to palliative care resources is essential.