Medvedeva N.А.1, Khalilov V.S.1,2, Kislyakov A.N.3, Kopachev D.N.4, Serova N.S.5


1 - Federal Research and Clinical Center for Children and Adolescents.

2 - Pirogov Russian National Research Medical University.

3 - Morozov Children Clinical Hospital.

4 - Research Center of Neurology.

5 - I.M. Sechenov First Moscow State Medical University (Sechenov University). Russia, Moscow.



Purpose. Presentation of a case with typical radiological patterns of tuberous sclerosis (TS) that has not been confirmed in the study of somatic status and genetic DNA sequencing.

Materials and methods. A 5-year-old child with focal epileptic seizures, frequency up to several times a day, to exclude the structural basis of epileptogenesis, a clinical, interdisciplinary examina-tion was conducted. The work used a superconductive MR system (3 T), routine scanning on a 5 mm slice with the inclusion in the protocol of pulse sequences T1, T2 (PROPELLER), FLAIR, DWI, three-dimensional 3D sequences with a slice thickness of 1.0 mm in T1 — FSPGR and FLAIR - CUBE. Modi-fication of the scanning protocol to the individual characteristics of the patient with the inclusion of pulse sequences ASL, SWAN and contrast enhancement.

Results. MRI revealed areas of a pathological signal in the cortical/subcortical parts of the right hemisphere in combination with a contrast-positive subependimal formation in the wall of the homo-lateral lateral ventricle. The transmantic focus in the right frontal lobe correlated with focal epilepti-form signs on the EEG curves. Thus, the radiological picture corresponded to the manifestations of TC with an active tuber in the right frontal lobe, the differential diagnosis was carried out with FCD in combination with an independent SEU. The patient underwent the procedure of epileptic surgery, his-tologically verified FCD IIb. At the same time, during clinical and instrumental examination of the in-ternal organs and skin of the patient, pathological changes characteristic of the manifestations of TS were not noted. Additionally, a genetic study was conducted, the purpose of which was to search for pathogenic mutations associated with TS. Genetic tests did not confirm the presence of TS in the pa-tient.

Discussion. The absence of identified genetic mutations in specific genes does not exclude the diagnosis of TS when detecting the pathognomonic complex of tuberous sclerosis of the central nerv-ous system according to MRI data. The presence of cortical dysplasia and a sub-perpendicular node is attributed to the main ("large") signs of TS and this diagnosis is not excluded even with negative ge-netic tests for the search for mutations in TSC1, TSC2.

Conclusion. The presented case of the discrepancy of the pathognomonic MR-picture of tuber-ous sclerosis with the results of clinical, instrumental examination and genetic test for the presence of mutations associated with TS once again proves the importance of interdisciplinary interaction of spe-cialists in making a reliable diagnosis.


Keywords: tuberous sclerosis, phacomatoses, neuroimaging, mutation in the TSC1 and TSC2 genes in tuberous sclerosis, MRI.



Corresponding author: Medvedeva N.А., e-mail: Этот e-mail адрес защищен от спам-ботов, для его просмотра у Вас должен быть включен Javascript





For citation: Medvedeva N.А., Khalilov V.S., Kislyakov A.N., Kopachev D.N., Serova N.S. A case of de-tection of pathognomonic MR-pattern of tuberous sclerosis complex of the central nervous system in a pa-tient without identified mutations in specific genes. REJR 2023; 13(1):78-86. DOI: 10.21569/2222-7415-2023-13-1-78-86.


Received: 02.02.23

Accepted: 07.03.23