TUBEROUS SCLEROSIS PRESENTED WITH ANGIOMYOLIPOMA RUPTURE: A CASE REPORT

Chiara Grassani1, Michele Potenzoni1, Anna Maria Pieri1, Nicoletta Uliano1, Sergio Destro Pastizzaro1, Daniel Martens1, Roberto Arnaudi1, Antonio Savino1, Andrea Prati1
  • 1 Ospedale di Vaio (Fidenza)

Objective

Tuberous Sclerosis is a rare, autosomal dominant inherited disorder that can present with a multisystemic syndrome characterized by the development of hamartomatous tumor in many organs, but affecting most notably brain, skin, eyes, kidneys, lungs, heart and liver. The clinic symptoms include: mental retardation, seizure, and characteristic skin lesions, but it can be entirely asymptomatic for long time or all life long.
It affects1: 100000 persons in the world, with no distinction between the sexes and the races [1].
Renal amgiomylipomas (AMLs) account up to 80% of patients affected by Tuberous Sclerosis (TS), but they can also arise sporadically in population. In case of complicating TS, AMLs show a rapid growth, reaching a very large size. These can cause serious complication such as rupture till hemorrhagic shock as a result of a retroperitoneal bleeding, requiring an aggressive therapeutic approach.

Materials and Methods

We report the case of a 17 years old female, referred to our operative unit for acute flank pain, mimicking renal colic, without fever and hematuria.
Personal and familial histories were negative for neoplasms, urinary stone or other significant urologic disease, neurologic pathologies, mental retardation, and cutaneous lesions. Her physical examination was unremarkable. The blood tests showed only mild anemia.
At the ultrasound scan (US) the left kidney was difficultly visualized because covered by a hyperecogenic lesion of unclear interpretation suggestive for a bleeding mass.
Abdominal computed tomography (CT) revealed a fairly large size, 10x9x10 cm, active bleeding neoplasm with heterogeneous structure and predominant adipose component, situated in the left retroperioneum, impinging and displacing abdominal viscera. Only a part of the normal renal parenchyma, the lower pole, was identified because the majority of the organ was occupied by the neoplasm. Similar, but smaller lesions were described in the contralateral kidney and in the liver.
The findings were in keeping with a renal angiomyolipoma in a probable background of ST.
The left renal artery angiography confirmed the presence of a voluminous hypervascularized renal mass, with a psudoaneurismatic formation inside the mass.

Results

Based on the immaging reports and in order to preserve renal parenchyma and void nephrectomy the patient was treated by selective arterial embolization, in particular we carried out embolization of the aneurysm-like bleeding site with 3 metallic coils.
Angiography performed after the procedure demonstrated a good control and remission of the hemorrhage, with final complete exclusion of the afferent vessels.
The postoperatory course was substantially regular. To define the previous diagnosis of ST we performed a brain Magnetic Resonance (RM) that displayed multiple subependimal calcified nodules along the lining of lateral ventricles. This is a common report seen in about the 90% of ST patients.
To complete the diagnostic-therapeutic process, the patient was sent to a rare disease reference center.

Discussions

Tuberous Sclerosis is a rare, autosomal dominant inherited disorder. Tuberous Sclerosis complex is associated with tumor development in brain, skin, retina, heart, kidneys, lungs and liver. Mental retardation, seizure, and characteristic skin lesions commonly manifest in childhood, but some elements emerge later, specially renal amgiomylipomas and pulmonary (AML), lymphangioleiomyomatosis (LAM).
Usually presents early in life with the classic triad: seizure, mental retardation, cutaneous angiofibromas, but less than 30% of the patients present all these findings, and 6% of the patients have none, as in our case where the patient was totally asymptomatic, as all the members of her family. As reported in literature, the clinical presentation of STC in adults differs from typical presentation in children. Women with TSC diagnosed in adulthood frequently presented with pulmonary LAM or renal AMLs, but they are less likely to have cognitive disorder and seizure. TSC can occur sporadically or familiarly.
Renal AML is a benign mesenchimal hamartomatous neoplasm which is composed of fat, smooth muscle and vascular elements, it is one of the common extracranial manifestations in ST, and is one of the rarely occurring solid tumors of the kidney 2 to 6%. In about 20% they coexist with ST. AMLs larger than 10 cm in individuals without ST is extremely rare. They can be multifocal in about 33% and bilateral in 15% of all cases.
AMLs in tuberous sclerosis occur more frequently as multiple lesions and to growth to larger size as compared with idiopathic AMLs.
In ST patients the risk of concomitant renal cell carcinoma is increased of 2-3%, similar to that in general population, but renal cancer, in ST patients, is diagnosed in a younger age.
Histologically AMLs are part a family of lesions called perivascular epitheliod cell tumor (PEComas), displaying immunoreactivity for HMB45 (a melanocytic marker), actin and desmin (smooth muscles markers).
Usually, they are diagnosed during imaging examination and do not reach large size. They occur multifocally in about 33% and bilaterally in 15% of all cases. Most frequently AML proceeds asymptomatically, having an indolent clinical course, but it can present with hematuria or abdominal pain because of a spontaneous bleeding into retroperitoneal space from abnormal neoformed vessels referred to as Wunderlich syndrome. In fact this neoplasm can have abnormal vasculature, forming aneurysms that can spontaneously break with hemorrhage, as seen in the report. When large they may cause life-threating hemorrhage, but seldom malignant degeneration or metastatization. The risk of bleeding from renal AML in patients with ST varies between 25% and 50%, and it is related to aneurysm size, with a maximum risk for aneurysm major than 5 mm. Diagnosis is based mainly on radiologic scan.
AMLs signicantly affect the outcome of TS because they can invade adjacent normal parenchyma, leading to chronic kidney disease, in addiction they can cause aneurysm that may rupture.

Conclusion

Renal involvement in TS requires careful parenchymal spearing procedures, because of the tendency to develop multiple and bilateral neoplasm, that can result in renal insufficiency, in order to preserve parenchyma functionality and void nephrectomy.
When bleeding occurs trans arterial embolization and surgery are the treatment options. If no hemorrhage happens it is possible to perform cryoablation, embolization, as well, tumorectomy. The choice is based on the characteristic of the neoplasm such as dimensions, vascularization, symptoms and comorbidities.
Small lesions, under 4 cm in diameter may be monitored with ultrasound meanwhile for the lesion of more than 4 cm diameter, or the symptomatic one, pain medication, embolization or surgery is necessary.

References

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