| Abstract|| |
Angiomyolipomas (AMLs) are rare renal tumors, occur in majority of cases of tuberous sclerosis which are usually multiple, larger, bilateral, affecting younger age group and have tendency to bleed. Pulmonary lymphangioleiomyomatosis (LAM) is a rare, idiopathic disease, exclusively affects women of childbearing age. This entity is rarely associated with tuberous sclerosis (TS). We present a case of young female with bilateral massive renal AMLs with bleeding on the right side, pulmonary LAM with typical features of TS. Associations between renal AMLs, pulmonary LAM and TS have been discussed.
Keywords: angiomyolipoma, tuberous sclerosis, lymphangioleiomyomatosis.
|How to cite this article:|
Pancholi A, Vaidya V, Gopinath T N, Prajapati A, Kothari K, Patel V. Bilateral massive bleeding in renal angiomyolipomas with pulmonary lymphangioleiomyomatosis in tuberous sclerosis: A rare presentation. Indian J Radiol Imaging 2006;16:897-900
|How to cite this URL:|
Pancholi A, Vaidya V, Gopinath T N, Prajapati A, Kothari K, Patel V. Bilateral massive bleeding in renal angiomyolipomas with pulmonary lymphangioleiomyomatosis in tuberous sclerosis: A rare presentation. Indian J Radiol Imaging [serial online] 2006 [cited 2020 Dec 3];16:897-900. Available from: https://www.ijri.org/text.asp?2006/16/4/897/32378
| Introduction|| |
Angiomyolipoma (AML) is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. AMLs occur as isolated, sporadic entities (80%) and in association with tuberous sclerosis (20%). AMLs in tuberous sclerosis (TS) occur in 80% of cases, are larger than isolated variety and often multiple, bilateral affecting the early age group ,. Lymphangioleiomyomatosis (LAM) is a rare, idiopathic disorder that exclusively affects the lung parenchyma of women of childbearing age. Although LAM is classified as a distinct clinical entity, the same pathological process can be seen in approximately 1% of patients with TS . We present a patient of TS with massive bleeding bilateral renal AML and features of pulmonary LAM, which is a rare presentation in a case of TS.
| Case report|| |
A 30 year old female presented in the emergency department for acute abdominal pain and vomiting for last 2 days. Abdominal examination revealed bilateral tender flank masses extending up to both iliac fossae. General examination revealed plaque like lesions in the forehead and nasolabial folds consistent with adenoma sebaceum and shagreen patches over lower back. Detailed history elicited from her husband revealed that she had low intelligence level and history of epilepsy since birth. Her systemic examination revealed no abnormality.
Ultrasonography of the abdomen showed bilateral huge heterogeneous predominantly echogenic masses occupying the renal fossae and extending up to both iliac fossae. Kidneys were not seen separately. Mass on the right was larger than the left. Bowel loops were displaced anteriorly and to the left.
Abdominal CT scan showed bilateral huge masses predominantly of fat attenuation replacing both the kidneys entirely [Fig-1]. The right mass measured 18 x 17 x 8 cm whereas the left mass measured 15 x 8 x 8 cm. The mass on the right was seen to cross the midline, compressing and displacing IVC, celiac axis, pancreas and bowel loops anteriorly and to the left. There was a large 9 x 9 x 5 cm sized posterior perinephric hematoma seen on the right side displacing the mass antero-laterally. Intratumoral hyperdense lesions suggestive of bleeding were also evident on the right side [Fig-1]. On contrast scans there was patchy but strong enhancement seen in the areas of the soft tissue of the mass [Fig-2]. There was excretion of the contrast and pelvis & ureters were visualized bilaterally. Bilateral renal veins were dilated. Liver, gall bladder, pancreas, spleen were normal. No ascites or lymphadenopathy was present. These typical CT findings were suggestive of bilateral massive AMLs with bleeding on the right side. CT-Head revealed multiple calcified cortical tubers and calcified subependymal nodules [Fig-3]. High Resolution CT Chest revealed bilateral, symmetrical, diffusely scattered small air cysts with thin and regular walls with normal lung parenchyma in between, consistent with the diagnosis of LAM [Fig-4].
Radiographs of both hand and feet showed presence of undulating periosteal reaction involving metacarpals, metatarsals & phalanges with cystic changes in the terminal phalanges [Fig-5]. Echocardiography revealed no abnormality. Her laboratory investigations revealed mild anemia. Renal profile was normal.
In the presence of history of epilepsy, low intelligence, typical skin lesions, bilateral massive renal AMLs, pulmonary LAM, calcified cortical tubers and subependymal nodules with undulating periosteal reaction and cystic changes in both feet and hands, the diagnosis of TS was made.
| Discussion|| |
TS is a neurocutaneous disease characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. It is a rare autosomal dominant disease affects approximately 1 in 100,000 people with equal distribution in both sexes ; however spontaneous mutation occurs in 56%-80% of individuals with TS . The disease is classically described as the triad of adenoma sebaceum, seizures, and mental retardation. However, this classical triad is present in less than 50% of cases. Thus the radiological hallmarks of this neurocutaneous syndrome are universally accepted as sufficient for diagnosis.
Hamartomas are the hallmark of TS. The hamartomas of TS include adenoma sebaceum of the skin, AML of the kidney, cortical and subependymal tubers of the brain, rhabdomyomas of the heart and pulmonary LAM, among others.
AMLs are uncommon benign renal neoplasms composed of fat, vascular, and smooth muscle elements. They occur as isolated, sporadic entities in 80% of cases, most commonly involve middle-aged women. The remaining 20% develops in association with TS. The occurrence of AMLs in the TS complex can be up to 80% ,. This tumor is one of the major diagnostic criteria of the disease . Renal AMLs with TS are distinctly different from those without TS. AMLs in association with TS manifest at a younger age and are likely to be larger and bilateral, and are prone to grow and need surgical treatment . In the series by Steiner et al. , the average size of AML in patients with TS is 9.6 ± 4.8 cm, and in those without TS is 4.1 ± 3.4 cm.
AMLs remain silent and are commonly incidental findings, but they may manifest with symptoms of abdominal and flank pain, gross hematuria, nausea, vomiting, fever, abdominal distension or simply as a mass ,. Common findings include a palpable mass, abdominal tenderness, hematuria, anemia, shock, hypertension, urinary tract infections, and renal failure. These signs and symptoms are usually a result of mass effect and hemorrhage . Our patient presented late with abdominal pain, lump and anemia.
With advances in cross-sectional imaging, the diagnosis of renal AML can usually be made confidently without surgery. The demonstration of fat on renal ultrasound and CT can accurately diagnose angiomyolipoma in 95 % of the cases . AMLs are well-defined hyperechoic masses at ultrasonography (US) regardless of the relative fat component. The fat component of AML easily identified on CT, thus helps to make the diagnosis radiologically. Demonstration of intratumoral fat attenuation is almost pathognomonic for this lesion ,. Single or multiple well-circumscribed renal cortical tumors containing tissue with fat attenuation of less than -20 HU are characteristic findings of AML on nonenhanced CT . In present case, diagnosis of AML was made on the basis of typical CT findings.
AMLs are at risk for spontaneous hemorrhage. Lesions greater than 4 cm size are at great risk of serious spontaneous hemorrhage 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 ,.
LAM is a rare, idiopathic disorder that predominantly affects the lung parenchyma of women of childbearing age. It is characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. Although LAM is classified as a distinct clinical entity, the same pathological process can be seen in approximately 1% of patients with TS . The high resolution CT of chest shows diffuse thin-walled cysts of variable size scattered throughout both lungs; these findings are relatively pathognomonic and accepted as diagnostic of LAM . As described previously, renal AMLs have been found in 80% of TS patients. However, renal AMLs are being found increasingly in patients with LAM in 15-30% of cases . Pulmonary involvement in TS is nearly exclusive in women. One study revealed that the prevalence of LAM in women with TS was 34% . According to some studies  the asymptomatic female patient of TS also need chest CT for the risk of developing LAM. The majority of the literature proposes that renal AMLs in association with pulmonary LAM is a forme fruste of TS and LAM & TS represent a spectrum of a similar disease process .
To the best of our knowledge, only five published case reports of massive bilateral renal AMLs in TS have been presented in the literature ,,,, among them only one case of bleeding AML has been presented . This case demonstrates the associations of massive bilateral renal AMLs and pulmonary LAM in a patient with TS.
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Source of Support: None, Conflict of Interest: None
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]