Child with prolonged leg pain and bruising

A 12-year-old boy was admitted to the paediatric ward with a 4-month history of worsening pain and bruising to his legs, which had resulted in a progressive reduction in his mobility. He initially had had difficulty weight bearing, which had then progressed further making him wheelchair bound. On examination, there was extensive bruising (figure 1) to his oedematous legs, worse on his right leg compared with his left. His background of autism and 15q13.3 deletion, along with maternal learning difficulties, made deciphering a clear history difficult. However, there was no account of trauma, and he had been afebrile throughout his illness. He had though lost 6 kg in weight but remained clinically stable. He was admitted to the ward for further assessment. Figure 1Clinical photograph showing bilateral bruises and swellings of the legs. Question 1 What differentials should be considered? Question 2 What investigation is more likely to suggest the diagnosis? Baseline bloods: full blood count—including platelets, albumin and coagulation. Extended bloods: vasculitis screen, erythrocyte Sedimentation Rate, endocrinopathies and iron studies. Doppler ultrasound calves. X-ray legs/hips. MRI tibia and fibula. Initial investigations showed a haemoglobin of 67 g/L, with mean cell volume of 76 fL. Platelet count and white cell counts, including differentials, were all within range. Infection markers, renal function tests, liver function tests and clotting screens were all nor...
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Epilogue Source Type: research