RADIOLOGICAL ROAD MAP TO TUBEROUS SCLEROSIS COMPLEX (TSC)

Khurram Bhinder

Abstract


ABSTRACT:

Objective: The objective of this article is to present imaging findings in tuberous sclerosis complex, which will eventually help in imaging based diagnosis.

Study Design: Retrospective study

Place and Duration of Study: Radiology Department, Shifa International Hospital, from 2010 to 2021.

Methodology: Total of 20 patients were selected from the radiology database retrospectively from 2010 to 2021. These patients were diagnosed with Tuberous Sclerosis by radiology department and their scans were performed and reviewed at CT and MRI machines of Shifa International Hospital. CT scan was performed on Toshiba 640 slices, Siemens 128 slices and Siemens 16 slices, and MRI was performed on Siemens 3 tesla, Toshiba-titan 1.5 tesla and Hitachi 0.4 tesla. The literature review was also done to identify different organ system involvement of this disease.

Result: Different organ system involvement by this disease and imaging features of them are reported.

Conclusion: TSC has wide range of radiological imaging findings. Recognition of various organ manifestations on imaging is necessary for making the accurate diagnosis and is helpful in the treatment plan.

Key Words: Tuberous sclerosis, Cortical tubers, Subependymal nodule, Rhabdomyoma, Lymphangioleiomyomatosis, Renal angiomyolipoma, Radiology.


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References


REFERENCES:

Portocarrero LK, Quental KN, Samorano LP, Oliveira ZN, Rivitti-Machado MC. Tuberous sclerosis complex: review based on new diagnostic criteria. Anais brasileiros de dermatologia. 2018 May;93:323-31.

Annear NM, Appleton RE, Bassi Z, Bhatt R, Bolton PF, Crawford P, Crowe A, Tossi M, Elmslie F, Finlay E, Gale DP. Tuberous Sclerosis Complex (TSC): expert recommendations for provision of coordinated care. Frontiers in neurology. 2019 Nov 6;10:1116.

Von Ranke FM, Faria IM, Zanetti G, Hochhegger B, Souza AS, Marchiori E. Imaging of tuberous sclerosis complex: a pictorial review. Radiologia brasileira. 2017 Jan;50:48-54.

Leung AK, Robson WL. Tuberous sclerosis complex: a review. Journal of Pediatric Health Care. 2007 Mar 1;21(2):108-14.

Russo C, Nastro A, Cicala D, De Liso M, Covelli EM, Cinalli G. Neuroimaging in tuberous sclerosis complex. Child's Nervous System. 2020 Oct;36:2497-509.v

Kukreja R, Mital M, Gupta PK, Rathee N. A case series of tuberous sclerosis complex: Clinico-radiological study and review of the literature. West African Journal of Radiology. 2017 Jan 1;24(1):109.

Kalantari BN, Salamon N, et al. Neuroimaging of tuberous sclerosis spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 2008;190:W304–W309.

J. C. Evans and J. Curtis, “The radiological appearances of tuberous sclerosis,” British Journal of Radiology, vol. 73, no. 865, pp. 91–98, 2000.

Lu DS, Karas PJ, Krueger DA, Weiner HL. Central nervous system manifestations of tuberous sclerosis complex. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2018 Sep (Vol. 178, No. 3, pp. 291-298). Hoboken, USA: John Wiley & Sons, Inc.

Stein JR, Reidman DA. Imaging manifestations of a subependymal giant cell astrocytoma in tuberous sclerosis. Case reports in radiology. 2016 Jan 31;2016.

Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomura N, Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: Recent advances in manifestations and therapy. International Journal of Urology. 2017

Atalar MH, Salk I, Egilmez H. Classical signs and appearances in pediatric neuroradiology: a pictorial review. Polish journal of radiology. 2014;79:479.

De Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, Hook D, King BH, Sahin M, Jansen A. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatric neurology. 2015 Jan 1;52(1):25-35.Sep;24(9):681-91.

Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. Journal of the American Heart Association. 2014 Nov 25;3(6):e001493.

Holley DG, Martin GR, Brenner JI, Fyfe DA, Huhta JC, Kleinman CS, Ritter SB, Silverman NH. Diagnosis and management of fetal cardiac tumors: a multicenter experience and review of published reports. Journal of the American College of Cardiology. 1995 Aug 1;26(2):516-20.

Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. American journal of medical genetics. 1990 Dec;37(4):443-6.

Tresoldi S, Munari A, Di Leo G, Pompili G, Magistrelli P, Secchi F, La Briola F, Canevini MP, Cornalba G, Sardanelli F. Myocardial fatty foci in adult patients with tuberous sclerosis complex: association with gene mutation and multiorgan involvement. Radiology. 2015 Nov;277(2):398-405.

Gupta N, Henske EP. Pulmonary manifestations in tuberous sclerosis complex. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2018 Sep (Vol. 178, No. 3, pp. 326-337). Hoboken, USA: John Wiley & Sons, Inc..

Cooley J, Lee YG, Gupta N. Spontaneous pneumothorax in diffuse cystic lung diseases. Current opinion in pulmonary medicine. 2017 Jul;23(4):323.

Moua T, Olson EJ, Jean HC, Ryu JH. Resolution of chylous pulmonary congestion and respiratory failure in lymphangioleiomyomatosis with sirolimus therapy. American journal of respiratory and critical care medicine. 2012 Aug 15;186(4):389-90.

Gupta R, Kitaichi M, Inoue Y, Kotloff R, McCormack FX. Lymphatic manifestations of lymphangioleiomyomatosis. Lymphology. 2014 Jan 14;47(3):106-17.

Muzykewicz DA, Black ME, Muse V, Numis AL, Rajagopal J, Thiele EA, Sharma A. Multifocal micronodular pneumocyte hyperplasia: computed tomographic appearance and follow-up in tuberous sclerosis complex. Journal of computer assisted tomography. 2012 Sep 1;36(5):518-22.

Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA. Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney international. 2006 Nov 2;70(10):1777-82.

Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008 Nov;28(7):e32.

Faiz BY, Malik Z, Bhinder KK. Imaging Features of Sinusitis and its Complications.

Pallisa E, Sanz P, Roman A, Majó J, Andreu J, Cáceres J. Lymphangioleiomyomatosis: pulmonary and abdominal findings with pathologic correlation. Radiographics. 2002 Oct;22(suppl_1):S185-98.


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