Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

Results of the home mechanical ventilation national program among adults in Chile between 2008 and 2017

Background Home mechanical ventilation (HMV) is a viable and effective strategy for patients with chronic respiratory failure (CRF). The Chilean Ministry of Health started a program for adults in 2008. Methods This study examined the following data from a prospective cohort of patients with CRF admitted to the national HMV program: characteristics, mode of admission, quality of life, time in the program and survival. Results A total of 1105 patients were included. The median age was 59 years (44–58). Women accounted for 58.1% of the sample. The average body mass index (BMI) was 34.9 (26–46) kg/m2. A total of 76.2% of patients started HMV in the stable chronic mode, while 23.8% initiated HMV in the acute mode. A total of 99 patients were transferred from the children's program. There were 1047 patients on non-invasive ventilation and 58 patients on invasive ventilation. The median baseline PaCO2 level was 58.2 (52–65) mmHg. The device usage time was 7.3 h/d (5.8–8.8), and the time in HMV was 21.6 (12.2–49.5) months. The diagnoses were COPD (35%), obesity hypoventilation syndrome (OHS; 23.9%), neuromuscular disease (NMD; 16.3%), non-cystic fibrosis bronchiectasis or tuberculosis (non-CF BC or TBC; 8.3%), scoliosis (5.9%) and amyotrophic lateral sclerosis (ALS; 5.24%). The baseline score on the Severe Respiratory Insufficiency questionnaire (SRI) was 47 (± 17.9) points and significantly improved over time. The lowest 1- and 3-year survival rates were observed in the ALS group, and the lowest 9-year survival rate was observed in the non-CF BC or TB and COPD groups. The best survival rates at 9 years were OHS, scoliosis and NMD. In 2017, there were 701 patients in the children's program and 722 in the adult´s program, with a prevalence of 10.4 per 100,000 inhabitants. Conclusion The most common diagnoses were COPD and OHS. The best survival was observed in patients with OHS, scoliosis and NMD. The SRI score improved significantly in the follow-up of patients with HMV. The prevalence of HMV was 10.4 per 100,000 inhabitants. Trial registration This study was approved by and registered at the ethics committee of North Metropolitan Health Service of Santiago, Chile (N° 018/2021).

Case report: “an unexpected origin of coma in a young adult”

We report a peculiar case of acute non-traumatic coma due to neuromuscular hypoventilation syndrome caused by a non-traumatic spinal cord injury (NTSCI). A 21-year-old patient presented to the emergency room complaining of sudden onset weakness in his lower limbs and shortness of breath. While in the ER, he briefly became comatose and labs revealed an acute respiratory acidosis. Detailed neurologic examination ultimately revealed upper motor neuron signs and quadriplegia. He was ultimately diagnosed with a non-traumatic spinal cord injury, in particular, a cervical transverse myelitis which had caused acute diaphragmatic weakness. Although a very rare cause of coma, emergency medicine physicians need to be aware of transverse myelitis, a disorder that may result in rapidly progressive neurologic decline and is treated with immunomodulation.

Ventilation Strategies in Obese Patients

Obesity is an increasingly prevalent disease and is a root and complication of conditions necessitating mechanical ventilation. Obese patients require a careful approach due to the particular manner of how ventilatory mechanics is affected, if obstructive sleep apnea (OSA) is present. The two main diagnoses we may encounter while ventilating these patients are obesity hypoventilation syndrome (OHS) and chronic obstructive pulmonary disease (COPD) in an obese patient, which has been recently proposed as a novel phenotype of COPD. The excessive amount of fat in the abdomen, chest wall, and around upper airways warrants the use of special ventilation modes and settings. This chapter provides insight into which issues should be considered when ventilating an obese patient, either in acute or chronic conditions. We stress the importance of acknowledging the high risk of OSA and how OSA affects the ventilation algorithms.