Huge Renal Angiomyolipoma in a Child with Tuberous Sclerosis Complex: A Diagnostic and Therapeutic Dilemma

Author(s):  
Sharifah NurDurrah Binti Syed Mudzhar ◽  
Mohd Yusran Othman

Tuberous Sclerosis Complex (TSC) is a rare neuro-cutaneous disorder that is associated with the development of benign hamartomas including renal angiomyolipoma (RAML). TSC associated RAML are usually asymptomatic, but it carries a life-threatening bleeding risk. We are sharing a case of a 5-year-old girl who was diagnosed to have TSC with associated subependymal giant cell astrocytoma, cardiac rhabdomyoma and autism. She presented with a history of worsening abdominal distension over 3 weeks duration and clinically noted to be pale with a ballotable left flank mass. Ultrasound and CT scan found to have multiple RAML in both kidneys with a huge mass on the left side. The mass represented a huge RAML (8cm) with aneurysmal formation with suspicion of intratumoral bleeding. The option of conservative management with mammalian target of rapamycin inhibitor followed with partial nephrectomy has been questioned with its life-threatening risk of bleeding and inability to do biopsy to rule out the possibility of renal cell carcinoma. Decision for nephrectomy was then made clearer following a MAG-3 scan which revealed only 11% differential function of the left kidney. She underwent a total left nephrectomy uneventfully and intraoperatively noted to have an enlarging lesion as compared to the previous imaging; 15cm in largest diameter. Histopathological finding was consistent with multifocal angiomyolipoma with intratumoral haematoma. Decision for nephrectomy in TSC-associated RAML need to be justified carefully in view of its risk of losing the contralateral kidney following the disease progression which may end up with life-long renal replacement therapy.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S26

2016 ◽  
Vol 26 (5) ◽  
pp. 1025-1028 ◽  
Author(s):  
Massimo Colaneri ◽  
Andrea Quarti ◽  
Marco Pozzi

AbstractWe report a case of a newborn, affected by tuberous sclerosis complex, with a prenatally diagnosed giant cardiac rhabdomyoma associated with a large renal angiomyolipoma presenting as a duct-depending lesion not treatable by surgery. After receiving everolimus, a mammalian target of rapamycin inhibitor, we observed a rapid, significant, and durable reduction of both lesions without remarkable side effects.


2007 ◽  
Vol 35 (5) ◽  
pp. 1187-1190 ◽  
Author(s):  
C.G. Proud

Amino acids regulate signalling through the mTORC1 (mammalian target of rapamycin, complex 1) and thereby control a number of components of the translational machinery, including initiation and elongation factors. mTORC1 also positively regulates other anabolic processes, in particular ribosome biogenesis. The most effective single amino acid is leucine. A key issue is how intracellular amino acids regulate mTORC1. This does not require the TSC1/2 (tuberous sclerosis complex 1/2) complex, which is involved in the activation of mTORC1, for example, by insulin. Progress in understanding the mechanisms responsible for this will be reviewed.


2017 ◽  
Vol 28 (3) ◽  
pp. 485-489 ◽  
Author(s):  
M. David Weiland ◽  
Kristin Bonello ◽  
Kevin D. Hill

AbstractCardiac rhabdomyomas are the most common tumours in children and are typically seen in association with the tuberous sclerosis complex. Although benign and often associated with spontaneous regression, in rare circumstances surgical resection is indicated to relieve obstruction or other mass-related effects. Recent clinical trials have demonstrated the benefits of mammalian target of rapamycin inhibitors for the treatment of other tumour sub-types associated with tuberous sclerosis. Here we report rapid regression of several massive cardiac rhadomyomas in two neonates with the use of the mammalian target of rapamycin inhibitor sirolimus.


2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii447-iii447
Author(s):  
Naomi Evans ◽  
Katherine Paton ◽  
Harinder Kaur Gill ◽  
Juliette Hukin

Abstract INTRODUCTION Everolimus is an inhibitor of mTORC1 (mammalian target of rapamycin complex 1), it is Health Canada and FDA approved for SEGA and renal angiomyolipoma in the setting of tuberous sclerosis complex (TSC). There is little data available in regards to this treatment of TSC associated retinal astrocytoma (RA). Although the behaviour of RA is often indolent or slowly progressive, aggressive behaviour with retinal detachment and neovascular glaucoma requiring enucleation has been reported in several patients. Definite TSC diagnosis is established when either two major features or one major and two minor features are present. Probable TSC diagnosis is established when one major plus one minor feature is present. METHODS We report a child with probable TSC mosaicism, with negative serum NGS for TSC but RA and retinal achromic patch on the left. A left retinal peripapillary astrocytoma around optic nerve and very close to fovea was noted. There was concern that if it grew or there were to be any leakage it would cause visual impairment. This lead to therapy with everolimus 4.5 mg/m2/d aiming for level between 5 and 10 mcg/L. RESULTS This boy has had a gradual reduction of the RA over the last 29 months, with healthy retina in the region no longer occupied by the lesion and preserved vision. He has tolerated therapy well with occasional mouth ulcers. CONCLUSION mTORC1 inhibition is effective therapy to preserve vision in the setting of retinal astrocytoma and tuberous sclerosis mosaicism.


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