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CASE REPORTS
MASSIVE BILATERAL RENAL ANGIOMYOLIPOMATOSIS IN TUBEROUS SCLEROSIS
ARSHAD S KHAN*, GIRISH D BAKHSHI**, ATA Q SIDDIQUI+, SUNILA JAGGI***, VAIBHAV A THAKARE****,
SUNDERRAJ ELLUR****, DEEPA R NAIR****
Tuberous sclerosis is an inherited disorder characterized by seizures, mental retardation, cutaneous lesions, and visceral hamartomas. 1 The disease occurs in 1:100,000 persons in all races with nearly equal distribution between the sexes.2 Tuberous sclerosis is often associated with renal angiomyolipomas. Angiomyolipoma (AML) is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. It has an incidence of about 0.3-3%. Two types are described: isolated AML and AML associated with tuberous sclerosis. AML associated with tuberous sclerosis accounts for 20% of the tumours; these lesions are typically larger than isolated AMLs, and they are often bilateral and multiple. AML occurs in 80% patients with tuberous sclerosis. We present a patient of tuberous sclerosis with massive bilateral renal angiomyolipomas who presented with anaemia and abdominal
distension.
INTRODUCTION
Tuberous Sclerosis or Bournville-Pringle disease (or just Bournville’s disease) is a relatively rare clinical condition. The disease occurs in 1:100,000 persons in all races with nearly equal distribution between the sexes.2 The name of the disease is derived from the calcified hamartoma in the brain.
Hamartomas in tuberous sclerosis have also been described in other organs and sometimes other types of benign tumours are also reported.3 Up to 80% of patients with tuberous sclerosis will have angiomyolipomas, but most of these tumours are found in patients without tuberous sclerosis. Renal angiomyolipoma is a rare finding, comprising only 0.3% of all renal neoplasms.4 Angiomyolipomas (hamartomatous tumours in the kidney) are usually bilateral and multiple, and contain variable amounts of fatty, muscular and vascular components.5 For this reason, the term angiomyolipoma is widely used. In 1911, Fischer initially described histologic appearance of angiomyolipoma, and in 1951, Morgan et al defined the name of the lesion.5,6 Two variant forms exist: 1) Unilateral, solitary, symptomatic, moderate-sized occurring in middle age women is the predominant type (M : F=4:11), 2) Bilateral, multiple of various sizes and associated with tuberous sclerosis. Previous series reveal that 20-50% of angiomyolipomas are associated with tuberous sclerosis and 40-80 % of tuberous sclerosis patients have angiomyolipoma. Histological aspects of these two types are similar and possibly two variant forms of the same disease.5,7 Herein, we describe a case of tuberous sclerosis with massive bilateral renal angiomyolipoma who was diagnosed late due to delayed presentation to a tertiary medical centre.
CASE REPORT
We present a case of 29 years female who presented with distension of abdomen and dull aching pain since 3 months along with altered bowel habits and weakness since 10 days. Clinical examination revealed her to be alert but sometimes she had difficulty in understanding what doctors were asking. Her skin and palpebral conjunctivae were pale and face showed wart-like lesions especially around the nasolabial folds, which were diagnosed histologically as adenoma sebaceum (Fig. 1).She had tachycardia along with tachypnoea. Her abdominal examination revealed firm masses in bilateral lumbar region right more than left in size and occupying almost the whole of abdomen. On probing further her mother revealed that patient had altered mental behaviour, skin lesions and episodes of convulsions since childhood for which she was taking some medication from a local village doctor.
Ultrasonography of the abdomen showed bilateral huge predominantly hyperechoic masses occupying the renal fossae and extending and occupying the whole abdomen. Kidneys were not seen and bowel was displaced in the midline anteriorly. Her brain (Computed Tomographic)CT scan revealed several calcified spots which were thought to be calcified subependymal nodules in the bilateral lateral ventricles (Fig. 2). Skull bone manifested thickening and no bone marrow space was found in the skull in CT. Abdominal CT scan showed bilateral huge masses predominantly of fat attenuation occupying almost the entire abdomen. They were replacing the kidneys entirely. The normal renal tissue was not seen. The masses had completely displaced the bowel which was sandwitched in a small area anteriorly (Fig. 3). The right mass measured 40 x 25 x 14 cms whereas the left mass measured 28 x 16 x 14 cms. No intratumoral aneurysm or calcification was seen. On contrast scans there was patchy but strong enhancement in the lesion in the areas where soft tissue streaks were seen in the masses. However there was prompt excretion of the contrast into the pelvis and the ureters which were visualized well. the findings were diagnostic of bilateral massive angiomyolipomas.
Based on the presence of mental retardation, epilepsy, adenoma sebaceum, renal angiomyolipomas, subependymal nodules it was diagnosed as a case of tuberous sclerosis with bilateral renal angiomyolipomas
Her haematological investigations showed haemoglobin of 7.0 gm/dl with all other parameters including renal profile (blood urea nitrogen, serum creatinine and electrolytes) within normal range.Patient was stabilized haemodynamically by giving blood transfusion and fluids. Patient was planned for nephron sparing renal surgery, however, relatives and patient were not willing for surgery or for selective arterial embolisation and patient got discharged against medical advice inspite of informing the associated risks. Patient came back to us after 14 days in shock. Inspite of all the resuscitative measures patient could not be saved. Postmortem revealed bleed in the renal AML which is one of the documented cause of death in these patients. The combined weight of both AMLs was 3190 grams which is one of the largest. Our patient though was suffering since childhood, however, she was diagnosed late due to delayed presentation to a tertiary institute. This case emphasizes the fact that awareness at the initial stage of this disease is essential for getting good results.
DISCUSSION
Tuberous sclerosis, a rare autosomal dominant disorder with variable penetrance, affects approximately 1 in 100,000 people with equal distribution in both sexes.2,8 Classically, the disease is described as a clinical triad of adenoma sebaceum, mental retardation, and seizures. However, due to incomplete penetrance, symptomatology may range from isolated organ involvement, present in mild incomplete disease to involvement of multiple organs. The pathophysiology of tuberous sclerosis can include glial tumours of the brain, adenoma sebaceum of the skin, rhabdomyoma of the heart, and hamartomatous tumours of the thyroid, retina, liver, pancreas, lung, kidney, adrenals and ovaries.9,10 Angiomyolipoma (AML) is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. The most important association of this tumour is with tuberous sclerosis. This tumour is one of the major diagnostic criterias of the disease. Overall, however, there are 4 times as many sporadic angiomyolipomas as there are cases associated with tuberous sclerosis
Histologically, angiomyolipoma is composed of a mixture of three tissue types: smooth muscle, thick-walled blood vessels, and mature fat. The smooth muscle cells are benign in appearance and are arranged in sheets and bundles. The blood vessels in angiomyolipoma are characterized by thick, muscular walls, which lack elastic lamellae. The fat cells are mature and normally developed.
Typically renal lesions remain silent and are usually incidental findings at autopsy.11 However, they may present with gross haematuria, flank pain, abdominal pain, nausea, vomiting, fever, abdominal distension or simply as a mass.8 Our patient presented late with abdominal distension and anaemia.
Shock due to massive retroperitoneal haemorrhage most commonly occurs in white females with a sporadic unilateral tumour and aged 40-50 years. In younger patients with AML and in those with associated tuberous sclerosis, tumour size and symptoms are significantly correlated. In our patient retroperitoneal haemorrhage was the cause of death.
With advances in cross-sectional imaging, the diagnosis of renal AML can usually be established without surgery. The adipose component of AML helps make the diagnosis radiologically, since it is easily identified on CT. The demonstration of fat on renal ultrasound and CT can accurately diagnose angiomyolipoma in 95 % of the cases.5 The radiographic features of angiomyolipomas on ultrasound examination (echogenic areas) or CT scanning (areas of fatty tissue; -20 to -60 Hounsfield units) are athognomonic.12 In our case diagnosis of AML was made on the basis of CT findings
Most tumours can be managed conservatively, particularly if they are asymptomatic. In suitable patients in whom the diagnosis is not established with imaging findings, partial nephrectomy enables pathologic diagnosis with a minimal loss of function. Nephron conservation is of even greater importance in tuberous sclerosis, in which tumours 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 abut the hilum. Renal arterial embolization can be used to control haemorrhage.
Most surgeons agree that these tumours are multicentric with rare local invasion rather than metastatic spread.5 Generally, growth and metastasis of these lesions are very rare; but especially for lesions greater than 3.5-4 cm-in size and during pregnancy periods, the risk of haemorrhage and hypovolaemic shock is critical.
Lesions greater than 3.5-4 cm size are at great risk of serious spontaneous haemorrhage and need to be explored. Especially, when the lesions are greater than 10 cm, preferred route of treatment is partial nephrectomy or selective arterial embolisation.5,6 Our patient required bilateral nephron sparing surgery or selective arterial embolisation because of the massive size of angiomyolipomas. However in our case both relatives and patient were not willing for either of the treatment modalities.
Our patient was diagnosed late because of delayed presentation to a tertiary centre. We will conclude that early recognition of the disease in childhood can prevent fatal complication at adult stage.
ACKNOWLEDGEMENT
We would like to thank Dean and Dr.GB Daver Head of the Department of Surgery, Grant Medical College and J.J. Group of Hospitals for granting us permission to publish this case report. We would like to thank Dr. Ashish V Chintakuntlawar for helping us in reference search.
REFERENCES1 Kalra OP, Verma PP, Kochhar S, Jha V, Sakhuja V. Bilateral renal angiomyolipomatosis in tuberous sclerosis presenting with chronic renal failure: Case report and review of the literature. Nephron 1994; 68 : 256-258.
2. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference : revised clinical diagnostic criteria. J Child Neurol 1998; 13 : 624-8.
3. Van Herdeen JA, Longo MF. The abdominal mass in the patient with tuberous sclerosis. Arch Surg 1967; 95 : 317-9.
4. Hajdu SI, Foote FW Jr. Angiomyolipoma of the kidney: report of 27 cases and review of the literature. J Urol 1969; 102 : 396-401.
5. Kennelly MJ, Grossman HB, Cho KJ. Outcome analysis of 42 cases of renal angiomyolipoma. J Urol 1994; 152 :1988-91.
6. Steiner MS, Stanford MG, Fishman EK, Marshall FF. The natural history of renal angiomyolipoma. J Urol 1993; 150: 1782-1786.
7. Munjal AK, Schultz S. Adult onset of renal angiomyolipoma in a patient with tuberous sclerosis. Urol Radiol 1992; 14: 144-147.
8. Stillwell TJ, Gomez M, Kelalis PP. Renal lesions in tuberous sclerosis. J Urol 1987; 138 : 477.
9. Okada R, Platt M, Fleishman J. Chronic renal failure in patients with tuberous sclerosis: association with renal cysts. Nephron 1982; 30 : 85-88.
10. Roach IS, Smith M, Huttenlocher P. Diagnostic criteria:tuberous sclerosis complex. J Child Neurol 1992; 7 : 221-4.
11. Farrow GM, Harrison EG Jr., Utz DC, Jones DR. Renal Angiomyolipoma: Clinicopathologic Study of 32 Cases.Cancer 1968; 22 : 564.
12. Neumann HPH. Case 18-1994: Tuberous sclerosis. NEJM 1994; 331 : 813.
KNEE TAPING REDUCES SYMPTOMS ASSOCIATED WITH OSTEOARTHRITIS
Therapeutic tape appled to the knee significantly reduces pain caused by osteoarthritis.
BMJ, 2003; 327 : 135.
