Only those who attempt the absurd will reach the impossible. High-flow nasal cannula oxygen therapy alone during weaning after extubation in a patient with tuberous sclerosis complex and lymphangioleiomyomatosis

Dear Editor, The tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder. Pulmonary lymphangio­leiomyomatosis (LAM) occurs in up to 40% of TSC patients and predominantly affects women. Most patients with TSC suffer from epilepsy, and many have cognitive and behavioral problems such as severe intellectual disability, autism, and hyperactivity. We report a case of a young woman who was intubated following convulsive status epilepticus which occurred in a state of clinical stability and who was weaned from orotracheal intubation exclusively using a high-flow nasal cannula (HFNC) with 1.0 FiO2. HFNC provides heated and humidified air with flow rates up to 60 L min-1 with relatively stable oxygen content (adjustable FiO2 0.21–1.0). In this case non-invasive ventilation (NIV) was not used due to the high risk of barotrauma caused by the progression of the cystic lung disease. HFNC proved effective to reduce inspiratory effort, enhance tidal volume by delivering high-flow oxygen and facilitate weaning from ventilators in this patient.  We describe the case of a young, 23-year-old woman known to suffer from TSC-LAM. She was born at full term to healthy nonconsanguineous parents. Her medical history begins at gestational age with the detection of multiple cardiac rhabdomyomas without hemodynamic significance, since when she has been in regular follow-up cardiology for this condition. Furthermore, when she was 14 years old, her clinical history was characterized by bilateral pneumothorax and 3 other episodes of left pneumothorax requiring endopleural drainage. The patient was diagnosed with TSC when molecular analysis revealed she inherited the TSC2 c.1832G > A (p.R611Q) mutation from her mother. The diagnosis of pulmonary lymphangioleiomyomatosis was carried out following the pneumothorax episodes using chest computed tomography (CT) scan showing the presence of numerous cystic airspaces. Abdomen CT scan revealed multiple hepato-renal angiomyolipomas. Also, CT brain scanning revealed diffuse hyperintense areas, which were seen in the bilateral cortex and hypointense cortical tubers with the most voluminous located at the level of the lateral recess of the fourth ventricle and the smallest at the level of the caudate lobe of the right and in the seat of the ipsilateral subependymal ventricle. The electroencephalogram showed electrical brain poorly modulated and unstable activity. She was treated with sirolimus and antihypertensive medication...


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