Spontaneous splenic rupture and factor VII deficiency in a child with Noonan syndrome

Abstract

A 16-year-old male with Noonan Syndrome presented to a district general hospital with abdominal pain, jaundice and collapse. Admitting blood tests were as follows: haemoglobin of 11.5 g/L, lactate of 4.2 mmol/L, bilirubin of 69 µmol/L, ALP of 154 U/L, white cell count of 24.7x10^9/L and a deranged clotting profile with a prothrombin time (PT) of 21.3 s. Given the unusual presentation, an abdomen and pelvis computerised tomography (CT) was requested which demonstrated a grade III splenic haemorrhage and subscapular haematoma. The patient was haemodynamically stable and responded well to conservative management. He made a full recovery and was discharged 10 days later. Subsequent clotting studies confirmed a factor VII deficiency, a bleeding diathesis commonly associated with Noonan syndrome [1].