Rare variant of genetically confirmed tuberous sclerosis complex presenting with bilateral renal angiomyolipoma in Wünderlich syndrome.
Ramon Jr Bagaporo LarrazabalHarold Henrison Chang ChiuDennis L SacdalanPublished in: BMJ case reports (2021)
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.
Keyphrases
- case report
- renal cell carcinoma
- cardiac arrest
- spinal cord injury
- chronic pain
- healthcare
- computed tomography
- neuropathic pain
- pain management
- physical activity
- genome wide
- copy number
- single cell
- image quality
- dual energy
- cardiopulmonary resuscitation
- soft tissue
- spinal cord
- magnetic resonance imaging
- dna methylation
- wound healing
- magnetic resonance
- transcription factor