S26 

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

Therapeutic Dilemma 

 
Sharifah NurDurrah binti Syed Mudzhar1, Mohd Yusran Othman1 

 

 

Abstract 

 

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. 

Keywords: Tuberous Sclerosis Complex (TSC), renal angiomyolipoma (RAML), rapamycin 

inhibitor, partial nephrectomy 

 

1. Paediatric Surgery, Hospital Tunku Azizah, Malaysia 

  

DOI: http://dx.doi.org/10.31344/ijhhs.v5i0-2.344  
 

http://dx.doi.org/10.31344/ijhhs.v5i0-2.344