case report
Wien Klin Wochenschr (2011) 123: 674–676 DOI 10.1007/s00508-011-0073-1 © Springer-Verlag 2011 Printed in Austria
Wiener klinische Wochenschrift The Central European Journal of Medicine
Massive bilateral renal angiomyolipomatosis and multifocal micronodular pneumocytes hyperplasia associated with tuberous sclerosis: A case report Mehmet Incedayi, Guner Sonmez, Cinar Basekim Radiology Department, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey
Received April 17, 2011, accepted after revision August 5, 2011, published online November 4, 2011
Mikronoduläre Hyperplasie der Pneumocyten bei tuberöser Sklerose: ein Fallbericht Zusammenfassung. Die tuberöse Sklerose ist eine autosomal dominant vererbte Erkrankung, die durch verschiedene hamartomatöse Veränderungen in verschiedenen Organen gekennzeichnet ist. Der Befall der verschiedenen Organe (neurologische (subependymale und corticale Veränderungen), renale (Angiomyolipome) und pulmonale (mikronoduläre Hyperplasie der Pneumozyten) Beteiligung) kann durch bildgebende Verfahren der Radiologie entdeckt werden. Wir berichten über eine 49jährige Patientin mit tuberöser Sklerose mit multiplen Organbefall und massiven bilateralen Angiomyolipomen. Summary. Tuberous sclerosis (TS) is an autosomal-dominant disorder characterized by a variety of hamartomatous lesions in various organs. Various organ involvements can be detected with radiology: neurologic involvement (cortical tubers, subependymal nodules and white matter abnormalities), renal involvement (angiomyolipoma) and pulmonary involvement (pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia). Here, we are reporting a case of tuberous sclerosis with multiple organ involvement and massive bilateral AMLs in a 49-year-old female patient. Keywords: Tuberous sclerosis, multifocal micronodular pneumocyte hyperplasia (MMPH), massive angiomyolipomas (AML), CT, MRI.
Introduction Tuberous sclerosis (TS) is an uncommon autosomal-dominant disorder which is characterized by seizures, cutane-
Correspondence: Mehmet Incedayi, MD, GATA Haydarpasa Teaching Hospital, 34668, Uskudar, Istanbul, Turkey, E-mail:
[email protected]
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ous lesions and hamartomatous lesions in various organs [1, 2]. The most common renal lesions in the patients with TS are the angiomyolipomas; these are rarely seen benign neoplasms which are composed of varying amounts of mature adipose tissue, smooth muscles, and blood vessels [3, 4]. MMPH is a hamartomatous process of the lung that exhibits multiple tiny pulmonary nodules [5]. In this article, we are reporting the case of a female patient with massive bilateral renal angiomyolipomas (AML), multifocal micronodular pneumocyte hyperplasia (MMPH), and tuberous sclerosis (TS). Concurrent renal and pulmonary involvement is extremely rare in patients with TS.
Case report A 49-year-old woman was diagnosed with tuberous sclerosis following a retroperitoneal bleeding which occurred five years ago. Intravascular embolization was performed to her right kidney. Abdominal US demonstrated multiple hyperechoic renal masses in both kidneys. Non-contrast enhanced CT of the abdomen revealed massive bilateral fat-containing masses which replaced both kidneys and occupied almost the entire abdomen (Fig. 1). Fluid accumulation and high-density areas in the right kidney, which were developed as a result of the previous bleeding, were also detected. Magnetic Resonance Imaging (MRI) was carried out with the intention of evaluating the extent and nature of the lesions and eliminating the possibility of RCC. Sagittal and coronal images of the entire abdomen confirmed the replacement of both kidneys. HRCT did not manifest any pulmonary cysts suggestive of LAM, but demonstrated multiple small nodules which were scattered throughout the entire lung (Fig. 2). Cranial MRI was performed with the aim of investigating other components of the TS. T2-weighted and fluid-attenuated inversion recovery MR images displayed hyperintense cortical tubers and white matter abnormalities (Fig. 3A). Calcified subependymal nodules were dem© Springer-Verlag 21–22/2011 wkw
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A
A
B
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Fig. 1. (A) Axial un-enhanced CT image demonstrates bilateral renal angiomyolipoma replacing both kidneys. Fluid accumulation and high-density areas in the right kidney, which have occurred in consequence of the previous bleeding, can be observed. (B) T2 W Coronal GRE Abdominal MRI confirmed the replacement of both kidneys in the entire abdomen. Previous bleeding of the right kidney caused heterogeneous signal intensity on the upper pole
Fig. 3. (A) Axial fluid-attenuation inversion-recovery MR image demonstrates linear radial white matter bands (arrow) extending from the cortex to the lateral ventricles and cortical tubers as hyperintense focus (arrowhead). (B) Axial un-enhanced CT scan shows calcified subependymal nodules (arrow)
onstrated on the axial CT images along the walls of the lateral ventricles (Fig. 3B). The patient is under follow-up for possible complications. Symptoms of the disease are treated with medical therapy.
Discussion
Fig. 2. CT scan demonstrates multiple tiny nodules with random distribution in both lungs (arrows)
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We are reporting the case of a TS patient with multiple radiologic manifestations and massive bilateral renal angiomyolipomatozis. Anatomical distortion was observed in the kidneys due to the renal AMLs which replaced the retroperitoneal areas on both sides. Approximately 80% of patients with tuberous sclerosis complex (TSC) develop renal angiomyolipoma [6]. Its histopathological appearance is characterized by an admixture of mature adipose tissue, sheets of smooth muscle, and thick-walled blood vessels of various proportions Massive bilateral renal angiomyolipomatosis
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[7, 8]. Angiomyolipomas may increase in size and become bulky, and may extend into the perirenal space. The majority of the renal angiomyolipomas are clinically silent, with sporadic cases most often detected as incidental findings during the US or CT examinations which are performed for unrelated causes. When symptoms do occur, the most common complaints include acute flank pain and hematuria [8, 9]. Our patient, who had a renal hemorrhage five years ago, was successfully managed with selective arterial embolization. Pulmonary involvement is observed in approximately 0.1–1% of the cases with TSC, and it is associated with LAM in the majority of the cases [10]. MMPH is reported in the literature with multiple small nodules in the bilateral lung fields in TS patients. Since our patient did not have any granulomatous or metastatic disease, diagnosis of MMPH was considered [5, 10, 11]. It is characterized by multicentric, well-demarcated nodular proliferation of type II pneumocytes along alveolar septa [11]. The prevalence of pulmonary nodules in TSC patients is much higher than previously recognized. In the radiological literature only few MMPH cases are reported [10]; however, despite the insufficiency of information about MMPH, in some studies it is reported that MMPH cases are not very uncommon [12, 13]. Since MMPH does not appear to be fatal and progressive, unlike the pulmonary LAM, treatment is not necessary in most cases [11]. To our knowledge, in the literature this is the only case which is characterized by bilateral massive renal angiomyolipomatosis and multifocal micronodular pneumocyte hyperplasia associated with TS. Moreover, the advanced age of the patient and her minor health problems despite the extensive organ involvement renders this a very uncommon case. Conflict of interest The authors declare that there is no conflict of interest.
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Massive bilateral renal angiomyolipomatosis
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