Giant Bilateral Angiomyolipoma Associated with Tuberous Sclerosis of Bourneville: Exceptional Case and Therapeutic Dilemma

Angiomyolipoma (AML) is a mesenchymal tumour composed of variable proportions of adipose tissue and vascular and smooth muscle elements. It can cause potentially life-threatening complications. This report aims to describe a bilateral angiomyolipoma associated with tuberous sclerosis of Bourneville; the second aim is to discuss the treatment modalities of this disease. A 51-year-old woman with abdominal mass and characteristic triad: Epilepsy, mental retardation and skin lesions (adenoma) (Fig. 1), with no notion of hematuria or abdominal pain, abdominal ultrasonography and computed tomography showing bilateral renal masses of 28.4×17 cm on the left kidney and 22× 11.7 cm on the right, respectively (Fig. 2-3). Serum creatinine was 13.4g/l. Body-scan imaging finds cardiac rhabdomyoma (Fig. 4) and brain calcifications (Fig. 5). the patient underwent surveillance with scan imaging every month, and at the last control, she was asymptomatic, serum creatinine was still normal. The management of giant bilateral AML is a complex and multifactorial decision. Patients can knowingly choose an active surveillance program, even with giant AML, but the economic situation and mental status can limit the therapeutic choice.

Fetal cardiac rhabdomyoma as sonographic sign of tuberous sclerosis complex - a diagnosis not to be missed.

Fetal cardiac rhabdomyoma should trigger the awareness of potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is needed to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy. Key words: cardiac rhabdomyoma; tuberous sclerosis; prenatal diagnosis

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

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

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome.