Eating disorders in the form of anorexia and bulimia are becoming increasingly common in young adults and children. Most of the patients are initially seen by their general practitioner (GP) and it may take several months before the facts are pieced together and an underlying eating disorder is identified. However, other medical conditions, albeit rare, should be considered when assessing these young adults as potentially missing them can lead to devastating consequences. This case highlights how a 15-year-old girl who presented to her GP with a history suggestive of an eating disorder and had a body mass index below the 0.4th centile, in fact had classical symptoms and clinical signs of primary adrenal failure, or Addison's disease.
This case of ectopic testis highlights the importance of a thorough first newborn examination followed by senior review when appropriate, and the expertise required to interpret neonatal ultrasounds. Following a provisional diagnosis of unilateral undescended testicle in a newborn, an ultrasound scan was unable to correctly identify the condition, resulting in a delay in diagnosis. The condition was later recognised incidentally, which led to a successful surgical correction. The early clinical examination and recognition of ectopic testis allows a timely surgical intervention preventing potential complications.
Pulmonary embolism (PE) is a rare paediatric diagnosis, but its presence is likely to be underestimated due to the subtle and non-specific nature of its symptoms. Common clinical features of PE include shortness of breath, pleuritic chest pain and acute cardiovascular collapse. Less common symptoms can include persistent unexplained tachycardia, fever or deep vein thrombosis. Rarely do patients present with abdominal pain and self-resolving shortness of breath; symptoms our patient experienced. However, in contrast to popular belief, having normal vital signs does not necessarily lower the probability of PE. D-dimer, a specific fibrin degradation product, has a good negative predictive value for venous thromboembolism diagnosis but its use in children is less clear, with up to 40% of children with PE having a normal D-dimer level. CT pulmonary angiography remains the gold standard in diagnosis.
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