Anorexia nervosa: a mistaken diagnosis.

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.

A case of panic to pulmonary embolism.

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.

Empty scrotum: undescended testis or ectopic?

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.

Chest pain in a 12-year-old girl with ulcerative colitis after therapy with mesalazine.

This case of chest pain complicating therapy received for ulcerative colitis in a young patient highlights the importance of a thorough history and clinical examination. The complication can be rapidly fatal if not recognised and treated quickly.

Genital ulceration in a 4 year old--a case of safeguarding? From social services to pathology...

This case of genital ulceration and social concerns in a preschool aged child was highly suspicious for child sexual abuse. However, the lesions presumed to be herpes simplex did not respond to antiviral medication. Specialist input from paediatric oncology and endocrinology resulted in a rare diagnosis of langerhans cell histiocytosis. Furthermore, the complication of diabetes insipidus later developed, making this the youngest child described to our knowledge with vulval lesions of langerhans cell histiocytosis and a central nervous system complication.

An unusual cause of limp.

Limp is a common clinical presentation in children, seen both in acute and community practice. The incidence is thought to vary between countries with suggested figures between 1.5 and 3.6 cases of non-traumatic limp per 1000 children. The authors present a case of a 6-year-old girl who attended our accident and emergency department with limp. It has been suggested that the most common diagnoses in our patient's age group are transient synovitis, septic arthritis, osteomyelitis, Perthe's disease and fractures or soft tissue injuries. Surprisingly our patient was diagnosed with haemophagocytic lymphohistiocytosis, for which limp is not a recognised presenting feature.

Periorbital cellulits--a mistaken diagnosis!

A 12-year-old girl presented with a 1 week history of orbital swelling associated with granuloma, purulent discharge from the eye and preauricular and submandibular lymphadenopathy. Initial conventional treatment for presumed preseptal cellulitis was unsuccessful. Despite treatment with broad spectrum antibiotics, the preseptal cellulitis progressed to orbital cellulitis with restriction of eye movements in addition to the marked conjunctival chemosis and haemorrhage. A detailed history revealed she had been in close contact with newborn kittens at home and biopsy of the granuloma demonstrated Bartonella species, confirming the diagnosis of cat scratch disease. The child received a course of appropriate oral and topical antibiotics and steroids. Unfortunately eyesight in the right eye remains poor on follow-up.