Case Study - September 2012

A 36 year old female presented to her local A&E department with sudden onset
of right sided loin pain. Blood tests revealed a haemoglobin of 9.

1. What do her 2 CT images labelled A & B show ?

2. Whose syndrome is this?

3. What is the underlying diagnosis and what genetic disease can this be associated with?

4. Which emergency procedure is illustrated in images C & D?

Reveal Answer

1. Right sided retroperitoneal haematoma associated with a tumour arising from the lower pole of the right kidney.

2. Wunderlich’s Syndrome.

3. Angiomyolipoma (AML), Tuberous Sclerosis.

4. Selective arterial embolisation. 

The right common femoral artery was punctured under US guidance with a 4F sheath. The right
renal artery was cannulated with a cobra catheter. Angiograms demonstrated a large right lower pole renal AML as seen on the recent CT. The lower pole vessels supplying
the AML were selectively cannulated with a microcatheter. The feeding vessels were embolised using a combination of particles and coils. Seven coils were deployed in total. A good embolic result was obtained with preservation of the upper pole renal vessels and only a small region of normal lower pole renal tissue embolised.

AML is a benign mesenchymal hamartoma composed of a variable proportion of adipose tissue, spindle and epitheloid smooth muscle cells, and abnormal thick-walled blood vessels. Ultrasound, CT, and MRI often lead to the diagnosis due to the presence of adipose tissue.

80% of AML occur sporadically. It is four times more likely in women. 20% of AML occur in Tuberous Sclerosis (TS), when it is multiple, bilateral, larger, and likely to cause spontaneous retroperitoneal
haemorrhage (Wunderlich’s Syndrome). TS is an autosomal dominant condition caused by a mutation of either of two genes, TSC1 (chromsome 9) and TSC2 (chromosome 16), which code for the proteins hamartin and tuberin respectively. These proteins act as tumour growth suppressors, agents that regulate cell proliferation and differentiation.

Two thirds of cases of TS are found in women, 50% develop AML by the age of 30, 75% are bilateral and 5% of TS patients develop clear cell renal cell carcinomas.

Most cases of AML can be managed by conservative nephron-sparing approaches, though some cases of AML may require complete nephrectomy. Of the standard surgical interventions, partial nephrectomy,
selective arterial embolisation and radiofrequency ablation can be used. Although embolisation is effective at controlling haemorrhage in the acute setting, it has limited value in the longer-term management of AML.

Ref: Nelson CP, Sanda MG. Contemporary diagnosis and management of renal angiomyolipoma. J Urol 2002 Oct;168 (4 Pt 1):1315-25.

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