{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:10:06Z","timestamp":1756368606768,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,7,19]]},"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>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 <jats:italic>TSC2<\/jats:italic> 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\u2009weeks, already on sirolimus 2\u2009mg once daily. She reported improved overall well-being and a decrease in the flank mass size.<\/jats:p>","DOI":"10.1136\/bcr-2021-243380","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T11:55:08Z","timestamp":1627991708000},"page":"e243380","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare variant of genetically confirmed tuberous sclerosis complex presenting with bilateral renal angiomyolipoma in W\u00fcnderlich syndrome"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4538-416X","authenticated-orcid":false,"given":"Ramon Jr Bagaporo","family":"Larrazabal","sequence":"first","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Metro Manila, 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