The American journal of emergency medicine
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Case Reports
Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.
A case of a 13-year-old boy with protracted vomiting, ataxia, and altered mental status, ultimately diagnosed with late-onset ornithine transcarbamylase (OTC) deficiency, is presented. OTC deficiency is the most common urea cycle defect and typically is diagnosed in male infants with irritability, poor feeding, vomiting, lethargy, and often death caused by the effects of hyperammonemia. Late-onset OTC deficiency has been described in patients of all ages. ⋯ The pathophysiology, clinical features, differential diagnosis, and treatment of this disorder are discussed. Because of the risks of serious consequences, early detection and treatment of OTC deficiency and hyperammonemic episodes are mandatory. Emergency physicians caring for children and adults need to be aware of the spectrum of clinical presentations of OTC deficiency, including late-onset disease.
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Thromboembolic events such as deep vein thrombosis (DVT) and pulmonary embolism (PE) are very uncommon in the pediatric age group; even more rare is the white clot syndrome. We present the case of a 13-year-old girl who presented with no known risk factors for thromboembolic disease or cardiopulmonary complaints, yet was found to have extensive lower extremity DVT and PE. This patient also suffered the rare but potentially devastating complication of heparin therapy referred to as the white clot syndrome, resulting in amputation of the lower extremity. Greater awareness of both thromboembolic disease in children and the white clot syndrome may lessen the morbidity and mortality associated with these entities.