A Girl with High ACE

A 10-year-old girl was referred to the Paediatric Surgery clinic because of recurrent epigastric and left hypochondrial pain every three months, lasting three to five days. The abdominal discomfort was associated with episodes of nausea. The patient had also had occasional nose bleeds.
At birth she had aspiration of meconium but had been otherwise well until the age of 10. Her father had been diagnosed with ulcerative colitis and her father’s sister had coeliac disease. An ultrasound scan of the abdomen showed a mildly enlarged spleen and a right ovarian follicle. Given her family history, she underwent colonoscopy with biopsy which was inconclusive.

At the age of 19, she was seen in the Gastroenterology clinic and had a repeat abdominal ultrasound scan and additional blood tests. Her scan confirmed a large spleen and the blood tests showed an elevated angiotensin converting enzyme (ACE) level (207 U/L). In view of her splenomegaly, she was referred to the Haematology clinic where she was screened for sarcoid, rheumatoid, haematologic and autoimmune diseases. However, further investigations were normal and no diagnosis could be reached. ACE level was again raised at 250 U/l.

She continued to be afflicted by recurrent episodes of abdominal pain. Therefore she was seen again in the Gastroenterology clinic and was further investigated with oesophago-gastroduodenoscopy with biopsy, ultrasound scan of the liver and portal vein, and abdominal magnetic resonance scan. The enlarged spleen was again evident but no other abnormality was found.

During one of her last clinic consultations, she mentioned that she had been on holiday to the Dominican Republic in 2003 and recalled being bitten by an insect. Following this, she had felt ill for several months with episodes of abdominal pain associated with fever, diarrhoea, nose bleeds and some joint swelling.

She was referred to the Infectious Disease clinic where she was tested for pathogens which could have been encountered during her holiday overseas. These included Epstein–Barr virus, Cytomegalovirus, Toxocara, Leishmania and Schistosomiasis. All tests were negative.
At this time she reported some mild joint swelling and discomfort affecting her fingers. A Rheumatology opinion was sought.

What do you think was the diagnosis?

A Young Man with a Rash & High CRP

Some time ago, I was referred a 21-year old Caucasian man who had had a red rash on his legs a couple of months ago. Over the same period, he had been to the Emergency Department twice with pain and redness in his right eye, diagnosed as acute uveitis. The GP wondered if he had vasculitis.

In his other history, he had lost a stone in weight (6.3 kg) in 6 months without really trying. Over the last 12 months, he had had recurrent pilonidal sinus related infections in his bottom, diagnosed and treated with antibiotics by his GP. There was no history of Raynaud's, oral or genital ulcers, sicca symptoms or psoriasis. There had been no joint pains. He did not smoke but drank lager at weekends.

His GP checked his blood and documented: Hb 10.8 g/dl, MCV 82, WBC 11, Neutrophils 9, ESR 120, CRP 85, urine 300 RBC (normally <45), no proteinuria, normal U&Es & LFTs. RF negative, ANA weak positive in a nucleolar pattern, ENA, dsDNA, ANCA negative.

Examination showed no rash or synovitis, normal systems and an apparently healthy looking man.

I made the diagnosis, but only after calling him at home to ask him a question I had omitted in clinic.

Thoughts?

A Sick Lady With An Abnormal Xray

Forty-five year old female, life-long non-smoker presents with with dyspnoea, fever, non productive cough, wheeze, night sweats and weight loss over several weeks. This is her X-ray. What's the diagnosis?

Picture, courtesy UpToDate.