Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. MCAD is essential for fatty acid β-oxidation during hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores are exhausted during extended fasting and periods of increased energy demand. The inability to metabolize these fatty acids results in hypoketotic hypoglycemia and the accumulation of toxic partially metabolized fatty acids. Intercurrent infection, extended fasting, excessive alcohol intake, vomiting, or diarrhea can lead to serious illness, including encephalopathy and even sudden death. Young people with MCADD are followed up on a regular basis by their metabolic disease specialist, and they are informed about risk factors as they advance through adolescence and adulthood. They should also carry along a written emergency management plan and relevant contact numbers. We describe a case of a 17-year-old female who attended her local emergency care center complaining of severe abdominal pain, vomiting, muscle ache, and poor oral intake. She was known to have MCADD; however, her emergency care plan had a date from eight years ago. She made a rapid recovery after receiving intravenous glucose and other therapies. The patient's concerns and knowledge about MCADD were not fully appreciated at the initial stage due to the rare nature of the disease. This in combination with the absence of current notes on the system, an emergency care plan dated from eight years ago, and the need to obtain specialist advice led to a slight delay in commencing specific therapy. This case report serves as a reminder of the emergency presentation of young people with MCADD, emphasizing the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.
The aberrant right subclavian artery (ARSA, arteria lusoria) is the most common intrathoracic vascular anomaly, affecting up to 2% of the population. However, aneurysms of congenital anomalies are extremely unusual and often present with dysphagia, dysphonia, or dyspnea due to compression of the surrounding structures. We report a case of an asymptomatic 57-year-old male with chronic kidney disease who was incidentally found to have a large aneurysm of the ARSA on preoperative computed tomography for laparoscopic nephrectomy. Surgery is unequivocally warranted as these aneurysms are associated with a high risk of complications, including thrombosis, embolism, and rupture. We debranched the ARSA, followed by anastomosis to the right carotid artery through a right neck incision. Subsequently, aneurysmal resection was performed through left thoracotomy. The patient had an uneventful postoperative recovery and was asymptomatic during the follow-up.
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