ABSTRACT
An air embolism is characterized by the entry of gas bubbles into the circulatory system, which can lead to the possible occlusion of blood vessels, posing a potentially life-threatening risk. While commonly associated with lung trauma or decompression sickness, it can also result from medical procedures such as central venous catheter insertion or, in our case, gas insufflation for laparoscopic surgery. We present the case of a 65-year-old female who suffered from a stroke secondary to an air embolism after undergoing a laparoscopic Nissen fundoplication in which carbon dioxide insufflation of the abdominal cavity was utilized. We also will discuss the elusive etiology of this complication as well as diagnosis, treatment, and proposed preventative measures. A 65-year-old female with gastroesophageal reflux disease and a hiatal hernia elected to undergo a laparoscopic Nissen fundoplication for hernia repair. After a successful surgery, the patient was found with significant neurological deficits, including left-sided hemiplegia, numbness in the left hand, hemianopsia, dysarthria, and a National Institutes of Health Stroke Scale score of 20. CT head imaging revealed several low-density foci in the right frontal lobe, while CT neck and chest imaging revealed subcutaneous emphysema and pneumomediastinum. Subsequent labs were significant for an elevated lactate at 7.6 mmol/L. MRI of the brain depicted evidence of an acute infarct in the right frontal lobe with diffusion-weighted imaging (DWI) sequences. The imaging results were correlated with the patient's clinical presentation to establish the diagnosis of a nondominant hemisphere stroke, localized to an anterior branch of the right middle cerebral artery (MCA). After intubation and supportive treatment for three days, the patient was extubated and able to follow commands but had left facial weakness and diminished strength in the left upper and lower extremities. At the two-month follow-up visit, the patient no longer had any focal neurological deficits. Air emboli, though very rare, can occur as a complication in laparoscopic surgeries that utilize CO2 for body cavity insufflation. Patients may be asymptomatic with small, self-limiting emboli, while others may exhibit pulmonary symptoms, cardiac arrest, or focal neurologic changes, depending on the emoji's size and location. Given the wide range of patient presentations, the elevated mortality of laparoscopic procedures complicated by air emboli, and the rare occurrence of focal neurological symptoms as depicted in this case, rapid diagnosis and close postoperative observation and treatment are vital for both short-term and long-term patient outcomes.
ABSTRACT
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.
