Multiple pathologic fractures in a patient with sickle cell disease is rare; bone involvement is well documented in this disease, however multiple pathologic fractures as a complication are uncommon. We present a case involving a 19-month-old boy known to have sickle cell disease who developed multiple pathologic fractures as a complication of his disease. The patient was...
(Vol 13 p 63-68, Haematology; Orthopaedics; Paediatrics; Pathology; Radiology: 22 July 2013)
We report an interesting complex CFTR gene mutation in a patient with cystic fibrosis. It is an insertion combined with a deletion that spans an exonic splice site, causes a frameshift and could affect splicing. This rare mutation poses a challenge to provide correct nomenclature and to interpret its clinical significance.
(Vol 12 p 36-39, Pathology; Paediatrics; Respiratory Medicine: 10 August 2012)
We report an unusual case of partial thickness contact burns to a neonate after he accidentally urinated on an electrical lamp causing the bulb to explode. We recommend that lamps should be covered and located away from children. Providing parental education on burn injury prevention and improving clinician awareness is vital.
(Vol 12 p 14-16, Paediatrics, Plastic surgery, Primary care: 17 April 2012)
This is the case of a 7-year-old girl with a history of migraine headaches who presented with a head tilt to the left and worsening headaches. Papilloedema was found on ophthlamoscopy. She had an intermittent history of migraine-type headaches for the past year. Oral naproxen 375 mg twice daily provided some relief of the headaches initially but they slowly worsened and...
(Vol 11 p 81-86, Radiology; Oncology; Paediatrics: 17 October 2011)
Primary glenoid dysplasia, although a relatively rare diagnosis, has been well described clinically and published in the orthopaedic literature. However, very few cases of familial occurrence of the disease have been reported. We present two cases of the condition in a father and son. Both presented in childhood with recurrent shoulder pain and radiologically display...
(Vol 7 p 13-15, Orthopaedic surgery, Paediatrics: 20 February 2007)