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

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149 KUWAIT MEDICAL JOURNAL June 2012 Case Report Bilateral Massive Angiomyolipomatosis Associated with Tuberous Sclerosis Farah Jassem A Aziz Sadeq, Fowzia Ali, Thomas Jose Eluvathingal Muttikkal Department of Radiology, Mubarak Al Kabeer Hospital, Kuwait Kuwait Medical Journal 2012; 44 (2): 149 - 153 ABSTRACT Angiomyolipoma is an uncommon tumor consisting of vascular, smooth muscle, and fatty elements. Angiomyolipoma can present in two forms; as an isolated unilateral lesion which occurs sporadically or as bilateral lesions associated with tuberous sclerosis and Von Hippel- Lindau syndrome. Bilateral massive angiomyolipomatosis is a very rare entity. Only three cases have been reported in medical literature. We present a case of bilateral massive angiomyolipomatosis associated with tuberous sclerosis. KEY WORDS: angiomyolipomatosis, massive hemorrhage, tuberous sclerosis INTRODUCTION Tuberous sclerosis is a relatively rare disease with an incidence of 1:100,000 [1] . Renal angiomyolipoma is an uncommon lesion, comprising about 0.3% of all renal masses [1] . 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] . Bilateral massive angiomyolipomatosis is a very rare entity, with only three case reports in medical literature; all the three being associated with tuberous sclerosis [4-6] . Angiomyolipomas can remain asymptomatic or present with fever, nausea, vomiting, mass, abdominal distension, abdominal pain, flank pain, gross hematuria, renal failure, anemia or hemorrhage [7,8] . The presentation can be delayed due to poor communication as a result of mental retardation, thus increasing the morbidity and mortality. Thus a high index of suspicion is needed in mentally retarded patients with poor communication skills, especially for the prompt intervention of spontaneous hemorrhage. We report this very rare case to increase the awareness so as to reduce the associated mortality and morbidity due to delay in diagnosis in similar cases. CASE REPORT A 33-year-old mentally retarded male patient was brought to the emergency department with one day history of severe abdominal pain and vomiting. Clinical examination revealed a pale patient with tachycardia and severe hypotension (60/50 mmHg). Resuscitative measures were initiated. A large mass was felt occupying most of his abdomen, along with fullness in both flanks. The patient was known to have tuberous sclerosis with mental retardation and epilepsy. Hematological investigations revealed anemia (Hb 97 g/l) and renal impairment (serum creatinine 219 μmol/l). There was further rapid drop in Hb to 67g/l and worsening of renal impairment with serum creatinine rising to 314 μmol/l. An urgent non-enhanced CT-scan of the abdomen and pelvis was done which showed bilateral huge heterogeneous masses with fat and soft tissue attenuation in the retroperitoneum occupying the renal areas and replacing the normal renal parenchyma (Fig. 1a, 1b). There was high attenuation suggestive of hemorrhage, fluid level and extensive fat-stranding in the right side mass (Fig. 1a). Prominent linear structures suggestive of extensive abnormal vasculature were seen (Fig. 1b, 1c). The masses displaced the bowel anteriorly (Fig. 2). The mass on the right side measured 24.3 cm x 20.9 cm x 16.6 cm (Fig. 3a, 3b) and on the left measured 32.6 cm x 19.6 cm x 13.8 cm (Fig. 3c, 3d). The findings were diagnostic of bilateral massive angiomyolipomas with Address correspondence to: Farah Jassem A.Aziz Sadeq, FFR-RCSI, Department of Radiology, Mubarak Al-Kabeer Hospital, PO Box 43787, Hawally-32052, Kuwait. Tel: +96566777411, Fax: + 96525618866, E-mail: 67farah@live.com
June 2012 KUWAIT MEDICAL JOURNAL 150 Fig. 1a: Non-enhanced axial CT scan showing bilateral huge heterogeneous masses with fat and soft tissue attenuation in the retroperitoneum occupying the renal areas and replacing the normal renal parenchyma; along with high attenuation suggestive of hemorrhage, fluid level and extensive fat-stranding in the right side mass hemorrhage on the right. The patient was stabilized by giving blood transfusion and IV fluids and was posted for selective arterial embolization, and if needed nephrectomy. Unfortunately the patient had cardiac arrest most probably due to hypovolemic shock as a result of continuing hemorrhage and died in spite of attempted resuscitation. Fig. 1c: Coronal reconstruction of non-enhanced CT scan showing prominent linear structures suggestive of extensive abnormal vasculature DISCUSSION Tuberous sclerosis is a rare autosomal dominant disorder with variable penetrance The incidence is approximately 1 in 100,000 with equal distribution in both sexes [8, 9] . Classically, the disease is described as a clinical triad of adenoma sebaceum, mental retardation and seizures. However, due to incomplete Fig. 1b: Coronal reconstruction of non-enhanced CT scan showing bilateral huge heterogeneous masses with fat and soft tissue attenuation; along with prominent linear structures suggestive of extensive abnormal vasculature on the left Fig. 2: Non-enhanced axial CT scan showing anterior displacement of the bowel loops by the mass
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