Rare variant of genetically confirmed tuberous sclerosis complex presenting with bilateral renal angiomyolipoma in Wünderlich syndrome

罕见的基因确诊结节性硬化症变异型,表现为双侧肾血管平滑肌脂肪瘤,并伴有温德利希综合征

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Abstract

A 28-year-old woman came for non-traumatic right flank pain with hypotension and right flank mass. She had multiple hyperpigmented skin papules located on the centre area of her face, and angiomas on her toes. She was anaemic and had a blood transfusion on top of aggressive fluid resuscitation. Abdominal CT showed bilaterally enlarged kidneys and fluid collection in the right perirenal space (haemorrhage). The consideration was an angiomyolipoma in spontaneous perinephric haemorrhage. We considered tuberous sclerosis complex (TSC) and did genetic testing. Results revealed mutations in the TSC2 gene, consistent with the diagnosis of TSC. No immediate surgical plans were considered at that time. She opted to be discharged against medical advice and was scheduled for a close outpatient follow-up. The patient followed up after 2 weeks, already on sirolimus 2 mg once daily. She reported improved overall well-being and a decrease in the flank mass size.

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