A Mitra

A Polizzi

D Kelberman

G Albi

G de Morsier

JE Oesterling

M Dickinson

ML Blute

MS Steiner

TS Lendvay

European Journal of Medical Research

Marcin Cichocki

Marek Sosnowski

Zbigniew Jablonowski

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EUROPEAN JOURNAL OF MEDICAL RESEARCHCichocki et al. European Journal of Medical Research 2014, 19:46http://www.eurjmedres.com/content/19/1/46CASE REPORT Open AccessA giant renal angiomyolipoma (AML) in a patientwith septo-optic dysplasia (SOD)Marcin Cichocki*, Marek Sosnowski and Zbigniew JablonowskiAbstractAngiomyolipoma (AML) is a rare benign renal tumor occurring in about 0.3 to 3% of the general population. Mostfrequently it takes the form of small single tumors occurring sporadically or accompanying tuberous sclerosis(Bourneville-Pringle disease). In some cases the tumor may reach a very large size and be a cause of various seriouscomplications. This case description concerns a 26-year-old female patient, suffering from hypopituitarism,hypothyroidism and binocular blindness during the course of septo-optic dysplasia, in whom a giant, left renal AMLwas diagnosed and treated surgically. According to the authors’ knowledge this was the first reported case of ahuge size AML in a patient with de Morsier syndrome.Keywords: Angiomyolipoma, Hypopituitarism, Septo-optic dysplasiaBackgroundAngiomyolipoma (AML) is a rare benign renal tumorhistologically containing elements of smooth muscle,adipose tissue and blood vessels in various proportions.It occurs in 0.3 to 3% of the general population, four-foldmore frequently in women and the peak of incidence fallsbetween the 30th and 50th years of life [1]. Most fre-quently (80%) these are small, singular tumors whichoccur unilaterally and occasionally. In the remaining casesthey coexist with tuberous sclerosis (Bourneville-Pringledisease) and they may be bilateral and multiple andachieve significant sizes [2,3]. A tumor which is biggerthan 10 cm and affects a whole organ is considered a‘giant’ AML [4]. Septo-optic dysplasia (de Morsier syn-drome) is a very rare syndrome of congenital defects con-sisting of optic nerve hypoplasia, hypopituitarism, andagenesis of the septum pellucidum [5,6].Case presentationThe patient, a 26-year-old woman with a diagnosis ofhypopituitarism, hypothyroidism and binocular blind-ness in the course of septo-ocular dysplasia was admit-ted to the Clinic of Urology because of a large tumor ofthe left kidney. The patient was 139 cm tall, weighed* Correspondence: chilawert@gmail.comClinic of Urology at Medical University, Military Medical Academy UniversityTeaching Hospital-Central Veterans Hospital, Żeromskiego 113, 90-549 Lodz,Poland© 2014 Cichocki et al.; licensee BioMed CentraCommons Attribution License (http://creativecreproduction in any medium, provided the orDedication waiver (http://creativecommons.orunless otherwise stated.52 kg and her BMI amounted to 27 kg/m2. Her bloodpressure was 120/70 mmHg, heart rate 70/minute, cre-atinine levels 66 μmol/l, and her electrolytes, bloodcount and urinalysis were normal. The lesion had beendiagnosed incidentally in another medical centre duringinvestigation of persistent stomach ache with a suspicionof pyelonephritis. During case examination a perceptiblemobile pathological resistance was reported on the leftside of the stomach from the costal arch up to the iliacfossa. On abdominal ultrasonography (USG) examin-ation, a large, intra-abdominal and left flank heteroge-neous tumor with dimensions 170 × 78 mm, mostlyhyperechogenic (consisting probably of adipose tissuewith little vascularization observed in Doppler color)and probably coming out of the left kidney, was re-ported. The right kidney was 108 mm long, with nourinary retention and no deposits. The diagnostics wereextended by computer tomography (CT) angiography ofthe abdomen with contrast, in which the following wasstated: numerous AMLs in the left kidney, the biggestcoming out from its lower part and affecting the wholeparanephric space and going down to the level of iliacfossa with dimensions of about 226 × 95 × 104 mm. Ex-cept for this the other intra-abdominal organs revealedno abnormalities (Figures 1, 2). The patient qualified forsurgical treatment. The whole kidney with the entiretumor was removed (Figure 3 and Figure 4) by perform-ing a median transperitoneal incision. Due to the risk ofl Ltd. This is an Open Access article distributed under the terms of the Creativeommons.org/licenses/by/4.0), which permits unrestricted use, distribution, andiginal work is properly credited. The Creative Commons Public Domaing/publicdomain/zero/1.0/) applies to the data made available in this article,Figure 1 Computer tomography (CT) angiography - visible tumor and pathological vessel.Cichocki et al. European Journal of Medical Research 2014, 19:46 Page 2 of 4http://www.eurjmedres.com/content/19/1/46serious bleeding, the priority was to reach the renal ves-sels. The procedure was performed without any complica-tions with the loss of 100 ml of blood. Further recoveryproceeded without any complications. Histopathologicalexamination confirmed the diagnosis of AML.DiscussionAML is one of the rarely occurring solid tumors of thekidney (2 to 6%). Most frequently they are diagnosed byFigure 2 A different scan with a visible tumor.chance during imaging examinations and they do notreach large sizes. They occur multifocally in about 1/3and bilaterally in about 15% of all cases. They coexistwith tuberous sclerosis (Bourneville-Pringle disease) witha frequency of about 20%. In such patients AML is diag-nosed in 40 to 80% with a 2 to 3% risk of coexistence ofrenal cell carcinoma (RCC). AML has a mild nature andit does not produce metastases. Most frequently it pro-ceeds asymptomatically. It may induce hematuria andFigure 3 A post-surgical specimen with a visible fragment of ureter and healthy renal parenchyma.Cichocki et al. European Journal of Medical Research 2014, 19:46 Page 3 of 4http://www.eurjmedres.com/content/19/1/46uncharacteristic pain [1-3]. The most serious and danger-ous complication for health from AML is spontaneousbleeding into the retroperitoneal space from pathologicalvessels, referred to as Wünderlich syndrome [7]. Diagnosisis based mainly on imaging examinations: USG and CT(presence of adipose tissue within the tumor mass ofdensity of 10 Hounsfield units is a characteristic feature),magnetic resonance imaging (MRI), angiography. Tumorslarger than 4 cm are usually symptomatic and these arethe tumors which require control every six months [8].The incidence of AML larger than 10 cm in individualsFigure 4 A post-surgical specimen with a visible fragment of healthywithout a diagnosis of tuberous sclerosis is extremely rare.The commonly applied methods of treatment include:cryoablation, embolization, tumorectomy, partial resectionof the kidney, or nephrectomy. The choice and scope oftreatment is determined by: tumor size, its vascularization,symptoms and comorbidities [9]. Septo-optic dysplasia (deMorsier syndrome) is a syndrome of congenital defectswhich occurs at a frequency of 1:50,000 and which con-sists of: optic nerve hypoplasia, hypopituitarism, and agen-esis of the septum pellucidum. Its etiology is multivariateand still not fully known. Recent reports claim a possiblerenal parenchyma.Cichocki et al. European Journal of Medical Research 2014, 19:46 Page 4 of 4http://www.eurjmedres.com/content/19/1/46role of the HESX1 gene which is responsible for the devel-opment of the pituitary and central parts of the brain.Boys fall ill from this syndrome just as often as girls [10].So far, an increased frequency of coexistence of renal car-cinomas, including AML, has not been described. Herein,we have presented the first case of a large AML in a pa-tient with de Morsier syndrome.ConclusionsWe have presented an extremely rare case of the coexist-ence of congenital defects in the form of septo-opticdysplasia associated with a giant renal AML. The patientrequired a precise diagnostic work-up and radical surgi-cal treatment.ConsentWritten informed consent was obtained from the patientfor publication of this case report and any accompanyingimages. A copy of the written consent is available for re-view by the Editor-in-Chief of this journal.AbbreviationsAML: angiomyolipoma; BMI: body mass index; CT: computer tomography;MRI: magnetic resonance imaging; RCC: renal cell carcinoma; SOD: septo-opticdysplasia; USG: ultrasonography.Competing interestsThe authors declare that they have no competing interests.Authors’ contributionsMC was a major contributor in writing the manuscript. MS critically revisedthe manuscript. ZJ reviewed the literature and gave final approval of thesubmitted version. All authors read and approved the final manuscript.Authors’ informationMC is the first author.AcknowledgementsWe thank the editor and reviewers for providing medical writing services.Received: 13 May 2014 Accepted: 7 August 2014References1. Steiner MS, Goldman SM, Fishman EK, Marshall FF: The natural history ofrenal angiomyolipoma. J Urol 1993, 150:1782–1786.2. Blute ML, Malek RS, Segura JW: Angiomyolipoma: clinical metamorphosisand concerns. J Urol 1988, 139(1):20–24.3. Lendvay TS, Marshall FF: The tuberous sclerosis complex and its highlyvariable manifestations. J Urol 2003, 169(5):1635–1642.4. Mitra A, Jain SK, Gupta D, Kaza RCM: Giant angiomyolipoma of the kidneypresenting as anaemia - a rare presentation. Open J Urol 2012, 2(No. 2):3.Article ID: 19128.5. de Morsier G: Études sur les dysraphies, crânioencéphaliques. III.Agénésie du septum palludicum avec malformation du tractus optique.La dysplasie septo-optique. Schweizer Archiv für Neurologie und Psychiatrie,Zurich 1956, 77:267–292.6. Kelberman D, Dattani MT: Genetics of septo-optic dysplasia. Pituitary 2007,10(4):393–407. Review.7. Albi G, Del Campo L, Tagarro D: Wünderlich’s syndrome: causes, diagnosisand radiological management. Clin Radiol 2002, 57(9):840–845.8. Oesterling JE, Fishman EK, Goldman M, Marshall FF: The management ofrenal angiomyolipoma. J Urol 1986, 135:1121–1124.9. Dickinson M, Ruckle H, Beaghler M, Hadley HR: Renal angiomyolipoma:optimal treatment based on size and symptoms. Clin Nephrol 1998,49(5):281–286.10. Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M: Septo-optic dysplasiacomplex: a heterogeneous malformation syndrome. Pediatr Neurol 2006,34:66–71.doi:10.1186/s40001-014-0046-8Cite this article as: Cichocki et al.: A giant renal angiomyolipoma (AML)in a patient with septo-optic dysplasia (SOD). European Journal of MedicalResearch 2014 19:46.Submit your next manuscript to BioMed Centraland take full advantage of: • Convenient online submission• Thorough peer review• No space constraints or color ﬁgure charges• Immediate publication on acceptance• Inclusion in PubMed, CAS, Scopus and Google Scholar• Research which is freely available for redistributionSubmit your manuscript at www.biomedcentral.com/submit

A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD)

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A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD)

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