Vol 44 # 2 June 2012 - Kma.org.kw

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151 Bilateral Massive Angiomyolipomatosis Associated with Tuberous Sclerosis June 2012 Fig. 3a, 3b, 3c, 3d: Non-enhanced axial and coronal CT images showing size of the masses penetrance, symptomatology may range from isolated organ involvement present in mild incomplete disease, to involvement of multiple organs. The patients with tuberous sclerosis can have glial tumors of the brain, rhabdomyoma of the heart, and hamartomatous tumors of the thyroid, retina, liver, pancreas, lung, kidney, adrenals and ovaries [10,11] . Angiomyolipoma can present as unilateral, solitary lesion, which occurs with a higher female predisposition in middle age (M: F = 4:11) or as bilateral, multiple lesions of various sizes associated with tuberous sclerosis or Von Hippel- Lindau syndrome [1] . About 20% of angiomyolipomas are associated with tuberous sclerosis and about 80% of tuberous sclerosis patients have angiomyolipomas [2, 3] . Thus, the most common association of angiomyolipoma is with tuberous sclerosis and there are four times as many sporadic angiomyolipomas as there are cases associated with tuberous sclerosis. Angiomyolipoma is a benign renal neoplasm composed of vascular smooth muscle and fatty elements. The demonstration of fat on ultrasound and CT can accurately diagnose angiomyolipoma in 95% of the cases and is pathognomonic [12,13] . In our case, the diagnosis of angiomyolipoma was made on the basis of CT scan which showed fat, hemorrhage and prominent abnormal vascularity. The renal angiomyolipomas usually remain silent and are incidental findings at autopsy [14] . However, they may present with fever, nausea, vomiting, mass, abdominal distension, abdominal pain, flankpain, gross hematuria, renal failure,
June 2012 KUWAIT MEDICAL JOURNAL 152 anemia or hemorrhage [7, 8] . Our patient had abdominal pain, vomiting, mass, anemia and retroperitoneal hemorrhage. Patients with angiomyolipoma associated with tuberous sclerosis present at a younger age, are more likely to be symptomatic, have large bilateral tumors that are more likely to grow and therefore more frequently require surgery. In the series by Steiner et al [15] , the average size of angiomyolipoma in patients with tuberous sclerosis was 9.6 ± 4.8 cm, and in those without tuberous sclerosis, was 4.1 ± 3.4 cm. Angiomyolipoma may grow to be large and bulky and extend into the perirenal space, which sometimes makes it difficult to differentiate from perirenal liposarcoma. However, perirenal liposarcoma is unilateral and usually spares the architecture of the kidney because it arises from retroperitoneal fat. In comparison, renal angiomyolipoma arises from the renal parenchyma and involves the kidney itself [16] . Our patient had bilateral massive angiolipomatosis, the renal parenchyma being inseparable from the lesion. The mass on the right side measured 24.3 cm x 20.9 cm x 16.6 cm and on the left measured 32.6 cm x 19.6 cm x 13.8 cm. Only three cases of bilateral massive renal angiomyolipomatosis have been mentioned in the literature [4-6] . In comparison with those cases, our case happens to be the second biggest. Most angiomyolipomas can be managed conservatively, particularly if they are asymptomatic. Nephron conservation is of great importance in tuberous sclerosis, as the tumors are often bilateral. Partial nephrectomy is ideal for masses with a diameter smaller than 3 cm, and partial nephrectomy may be possible in masses with a diameter smaller than 5 cm that do not reach the hilum. Lesions greater than 3.5 - 4 cm size are at great risk of serious spontaneous hemorrhage. Renal arterial embolization can be used to control the hemorrhage. When the lesions are greater than 10 cm, preferred treatment is partial nephrectomy or selective arterial embolisation [12,15] . Our patient was posted for selective arterial embolization and if needed nephrectomy. Unfortunately the patient had cardiac arrest most likely due to hypovolemic shock as a result of continuing hemorrhage from the angiomyolipoma and died in spite of attempted resuscitation. Of the three cases of bilateral massive renal angiomyolipamatosis mentioned in literature, two patients presented with hemorrhage; one of these patient who had nephrectomy survived [4] , while the other patient who did not undergo surgery died due to massive hemorrhage [5] . In general, individuals with mild form of disease live well with good life expectancy, while those with severe form of disease have serious disabilities. However, with appropriate management most individuals have normal life expectancy [17] . Lesions large than 3.5 - 4 cm are associated with catastrophic hemorrhage leading to death unless appropriately treated [12, 5] . The leading causes of death include renal failure, brain tumor, status epilepticus, bronchopneumonia and lymhangiomyomatosis [18] . CONCLUSION Renal angiomyolipomas associated with tuberous sclerosis are distinctly different from those without tuberous sclerosis. Patients with renal angiomyolipomas associated tuberous sclerosis present at a younger age, are, more likely to be symptomatic, have large bilateral tumors that are more likely to grow and therefore more frequently require surgery. Bilateral massive angiomyolipomatosis is a very rare entity, with only three case reports in medical literature; all the three being associated with tuberous sclerosis. Angiomyolipomas can have varying clinical presentations including life threatening massive hemorrhage. Poor communication as a result of mental retardation in these patients can delay the diagnosis, resulting in increased morbidity and mortality. Thus a high index of suspicion is needed in mentally retarded patients with poor communication skills, especially for prompt intervention for spontaneous hemorrhage. REFERENCES 1. Kalra OP, Verma PP, Kochhar S, et al. Bilateral renal angiomyolipomatosis in tuberous sclerosis presenting with chronic renal failure: Case report and review of the literature. Nephron 1994; 68:256-258. 2. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68:64-80. 3. Ewalt DH, Sheffield E, Sparagana SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol 1998; 160:141-145. 4. Nasir K, Ahmad A. Giant renal angiomyolipomas and pulmonary lymphangiomyomatosis. Saudi J Kidney Dis Transpl 2010; 21:314-319. 5. Khan AS, Bakhshi GD, Siddiqui AQ, et al. Massive bilateral renal angiomyolipomatosis in tuberous sclerosis. BHJ 2003; 45:477-480. 6. Liu H, Cooke K, Frager D. Bilateral massive renal angiomyolipomatosis in tuberous sclerosis. AJR 2005; 185:1085-1086. 7. Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifes¬tations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 2006; 70:1777-1782. 8. Stillwell TJ, Gomez M, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol 1987; 138:477-481. 9. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13:624-628. 10. Okada R, Platt M, Fleishman J. Chronic renal failure in
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