MULTIDISCIPLINARY ASPECTS OF THE DIAGNOSIS OF TUBEROUS SCLEROSIS (TWO CLINICAL OBSERVATION)
https://doi.org/10.24835/1607-0763-2018-4-96-107
Abstract
The article describes two cases of quite rare genetic disease, tuberous sclerosis, one of which was diagnosed as early as in adulthood in a patient with a history of episindrom, the other was diagnosed at the age of eleven in a patient with newly diagnosed seizures, having a history of heart rhabdomyoma. Complex use of radiological methods in the conditions of our clinic allowed to establish in short terms the diagnosis, to estimate a condition of internal organs and also to decide on further tactics of treatment and supervision of patients.
About the Authors
G. A. Stashuk
Moscow Regional Research and Clinical Institute.
Russian Federation
Russian Federation
Galina A. Stashuk – doct. of med. sci., the Chief Researcher, X-ray Department.
Moscow.
M. Yu. Ignatovic
Moscow Regional Research and Clinical Institute.
Russian Federation
Russian Federation
Mariya Yu. Ignatovic – radiologist of CT and MRI department of X-ray department.
Moscow.
O. S. Shpak
Moscow Regional Research and Clinical Institute.
Russian Federation
Russian Federation
Olga S. Shpak – radiologist of CT and MRI department of X-ray department.
Moscow.
L. B. Denisova
Moscow Regional Research and Clinical Institute.
Russian Federation
Russian Federation
Lydia B. Denisova – Head of CT and MRI department of X-ray department.
Moscow.
References
1. Tuberosis Sclerosis; Under the editorship of М.YU. Dorofeeva. М.: Prakticheskaya medicina, 2012. 240 p. (In Russian)
2. Fryer А.E., Chalmers А.H., Osborne J.P. The value of investigation for genetic counselling in tuberous sclerosis. J. Med. Genet. 1990; 27; 217–223. DOI: 10.1136/jmg.27.4.217
3. Houser O.W., Gomez M.R. CT and MR imaging of intracranial tuberous sclerosis. J. Dermatol. 1992; 19: 904–908.
4. Hu S., Hu D.Y., Zhu W.Z., Wang L., Wang Z. Tuberous sclerosis complex: Imaging characteristics in 11 cases and review of the literature. Journal of Huazhong University of Science and Technology Medical Sciences. 2016; 36 (4): 601–606. DOI: 10.1007/s11596-016-1632-5
5. DiMario F.J. Brain abnormalities in Tuberous Sclerosis Complex. J. Child Neurol. 2004; 19 (9): 650–657. DOI: 0.1177/08830738040190090401.
6. Christophe C., Sékhara T., Rypens F., Ziereisen F., Christiaens F., Dan B. MRI spectrum of cortical malformations in tuberous sclerosis complex. Brain & Development. 2000; 22: 487–493. DOI: https://doi.org/10.1016/S0387-7604(00)00186-8
7. Jozwiak S., Domanka-Pakiela D., Kwiatkowski D., Korutska K. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex a case report with molecular confirmation. J. Child Neurol. 2005; 20: 988–989. DOI: 10.1177/08830738050200121101.
8. Chao A.S., Chao A., Wang T.H., Chang Y.C., Chang Y.L., Hsieh C.C., Lien R., Su W.J. Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet. Gynecol. 2008; 31 (3): 289–295. DOI: 10.1002/uog.5264.
9. Sciacca P., Giacchi V., Mattia C., Greco F., Smilari P., Betta P., Distefano G. Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc. Disord. 2014; 14: 66. DOI: 10.1186/1471-2261-14-66.
10. Das B.B., Sharma J. Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow-up. Indian J. Pediatr. 2003; 70 (1): 87–89.
11. Korula S., Ekbote A., Kumar N., Danda S., Agarwal I., Chaturvedi S. Renal manifestations of tuberous sclerosis among children: the experience of India and literature review. J. Clin. Kidneys. 2014; 7 (2): 134–137. DOI: 10.1093/ckj/sft162.
12. Rakowski S.K., Winterkorn E.B., Paul E., Steele D.J., Halpern E.F., Thiele E.A. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 2006; 70 (10): 1777–1782. DOI: 10.1038/sj.ki.5001853.
13. De Waele L., Lagae L., Mekahli D. Tuberous sclerosis complex: the past and the future. Pediatr Nephrol. 2015; 30 (10): 1771–1780. DOI: 10.1007/s00467-014-3027-9.
14. Northrup H., Krueger D.A. International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr. Neurol. 2013; 49 (4): 243–254. DOI: 10.1016/j.pediatrneurol.2013.08.001.
15. Debska J., Malczyk K., Borkowska J., Jurkiewicz E. Cerebral manifestations of ttuberous sclerosis (TS) inmagnetic resonance imaging (MRI) in pediatric population-what a resident should know. Eur. Soc. Radiol. 2017. 1–18. DOI: 10.1594/ecr2017/C-1842.
16. Altman N.R., Purser R.K., Post M.JD. Tuberous sclerosis: characteristics at CT and MR imaging. Radiology. 1988; 167: 527–532.
17. Lopes M. TSC and subependimal giant cell astrocytoma. In: WHO Classification of Tumors of the Central Nervous System. Eds Louis. D. et al. IARC Lyon. 218–221.
18. Cuccia V., Zuccaro G., Sosa F., Monges J., Lubienieky F., Taratuto A.L. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Child. Nerv. Syst. 2003, 19: 232–243. DOI: 10.1007/s00381-002-0700-2.
19. DeRibaupierre S., Dorfmuiler G., Bulteau C., Fohlen M., Pinard J.M., Chiron C., Delalande O. Subependymal Guant Cell Astrocytomas in Pediatric Tuberous Sclerosis Disease. When Should We Operate? Neurosurgery. 2007, 60: 83–90. DOI: 10.1227/01.NEU.0000249216.19591.5D.
20. Roach E.S., Sparagana S.P. Diagnostic Criteria for Tuberous Sclerosis Complex. In: Tuberous sclerosis complex. Genes, Clinical features and therapeutics. Eds D.J. Kwiatkovski, V.H. Whittemore, E.A. Thiele. Wiley–Blackwell, 2010: 21–25.
Review
For citations:
Stashuk G.A., Ignatovic M.Yu., Shpak O.S., Denisova L.B. MULTIDISCIPLINARY ASPECTS OF THE DIAGNOSIS OF TUBEROUS SCLEROSIS (TWO CLINICAL OBSERVATION). Medical Visualization. 2018;(4):96-107. (In Russ.) https://doi.org/10.24835/1607-0763-2018-4-96-107
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