We present the case of a 43-year-old female affected by tuberous sclerosis complex, Bourneville Pringle disease, who was diagnosed at the age of 29.
The clinical manifestations started with skin symptoms. She firstly developed facial angiofibromas, adenoma sebaceum at a young age. Later, attended the dermatology department with periungual fibromas and with the appearance of hypopigmental patches on
the back. (Fig.1)
In her adolescent years the patient had epileptic episodes, in remission under the treatment of Pregabalin.In 2006, the abdominal ultrasonography revealed bilaterally enlarged kidneys with masses different in size and echogenicity, and a hypo echogenic mass on the upper pole of the left kidney and also an enlarged liver with 2 hyper echogenic, inhomogeneous masses.
An abdominal CT scan was requested, which described the above-mentioned renal lesions as possible bilateral angiolipomas. The hypo echogenic mass with a different solid aspect on the upper pole of the left kidney was described as a fat-poor CT scan component AML and the
malignancy could not be excluded either. The liver lesions were considered as hepatic angiolipomas.
(Fig. 2)
In order to prove or exclude malignancy, a CT guided biopsy was performed, which was reviewed by 2 pathologists. The histological findings showed an atypical renal angiomyolipoma, a rare monomorph, epitheloid type, which is known as a benign lesion, but certain patterns are potentially malignant, that need further observation. To determine these
patterns’ potential to become malignant, the histological findings are essential.
The brain computer tomography (CT scan) and the brain magnetic resonance imaging (MRI) revealed typical lesions of tuberous sclerosis.
The patient was referred to the ophthalmology department; a hamartoma was found during the funduscopic evaluation.
A genetic examination was performed from the patient’s specimen, which showed a mutation of the TSC2 c.2062 del, p. (Leu 688 Cysfs 10).
The lung manifestation, the lymphangioleiomyomatosis was diagnosed at the beginning of
year 2020, starting with cough and dyspnea.
In the guidelines it is mentioned that in the case of a kidney AML, a lesion>4 cm or aneurysms>5 mm in diameter, there is a high risk of potentially massive hemorrhage.9
Despite the histological findings and immunohistochemical features which were referring to a benign form of EM-AML, following the guidelines, taking the size of the lesions in consideration and the high risk to a potentially massive hemorrhage, the possibility of the surgery was offered. The patient refused to undergo urological surgery and decided to have interventions only for her skin manifestations.
The patient is being observed for 14 years now. The international guidelines recommend assessing renal function and blood pressure at least annually and renal imaging every 1-3 years. In our case, she developed secondary hypertension, which is treated with beta-blocker,
Metoprolol (Betaloc) 50mg 2x1 and valsartan plus hydrochlorothiazide (Co-Valsacor) 80/12,5 mg 2x1/2 with favorable outcome. The results of the last renal function test (2020.08.18) were between the normal intervals: creatinine 76 U/L, carbamide 4,4 mmol/L, eGFR > 60 ml/min/1.73m2. Concerning the renal imaging, MRI and CT scans were used, at the beginning every 6 months, then annually. The results of the renal imaging during the follow-up period, did not show significant progression. Her epilepsy is treated effectively with Pregabalin (Lyrica) 2x75 mg.
After a 14 year follow up the patient is stable, under remission, without any progression regarding the renal lesions, without any renal surgical intervention.
Since the diagnosis of the lung manifestation (LAM) at the beginning of the year 2020, our patient is waiting for the approval to begin the mTOR inhibitor, Everolimus therapy.