Tuberous sclerosis complex

Syndrome description
Tuberous sclerosis syndrome is a multisystem disorder characterized by a wide clinical spectrum, from simple skin signs (facial angiofibromas, fibrous facial plaques, hypomelanotic macules, shagreen patches, ungual fibromas) to severe neurological pathologies (epilepsy, developmental delay, mental retardation, and autism) and with hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung.
Prevalence
0.91 children out of 10.000
Tuberous sclerosis complex affects boys and girls equally. Rhabdomyomas are the most common tumors, accounting for two-thirds of the cardiac masses detected in the fetus and neonate.
Codification
Orpha: 805
OMIM: 191100 613254
UMLS: C0041341
MeSH: D014402
GARD: 7830 946
MedDRA: 10045138
A little story
Credit is usually given to D. Bourneville, who recognized it in 1880. Hamartomatous lesions develop in many tissues, especially the skin and brain.
Diagnostic criteria were set forth by the National Tuberous Sclerosis Association in 1992 and modified in 2004. Two major features or one major feature plus two minor features make the diagnostic of tuberous sclerosis complex (TSC).
Anomalies detectable by ultrasound
Anomalies: very frequent – 80% or more
1st trimester
2nd and 3rd trimester
- Cortical tubers (most often supratentorial)
- Subependymal nodules
- Abnormality of the kidney (hyperechogenicity)
Anomalies: frequent 30 – 80%
1st trimester
- Abnormal cerebral ventricle morphology
- Abnormality of the nervous system
2nd and 3rd trimester
- Cardiac rhabdomyoma (often multiple and increase in size up to 32-35 weeks)
- Tachyarrhythmias
- Hydrops
- Renal cyst
Anomalies : occasional < 30%
1st trimester
2nd and 3rd trimester
- Subependymal giant-cell astrocytoma
- Hydrocephalus (by obstruction of the foramen of Monro)
Abnormalities detectable by MRI
Cortical tubers, subependymal nodules, subependymal giant cell astrocytoma.
Genetic / chromosomal Diagnosis
TSC is inherited as an autosomal dominant trait.
Mutations in the TSC1 or TSC2 genes (chromosomes 9q34.13 and 16p13)
De novo mutations are responsible for two-thirds of cases.
Only 10%–20% of the cases do not have a specific mutation, and these are deemed to be due to mosaicism.
In case of family history or on detection of cardiac rhabdomyomata, prenatal diagnosis of TSC is therefore possible by searching for the TSC1 and TSC2 mutations.
Differential diagnosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis is seen in up to 5% of patients presenting with TSC and should be excluded. Other differential diagnoses include vitiligo, Ito hypomelanosis, acne, skin rash, cardiac myxoma, isolated brain tumors, pulmonary emphysema, and kidney cysts.
Découvrez Sonio Diagnostics
Logiciel d’aide à la décision pour le diagnostic prénatal issu de 5 années de recherche et de collaboration entre des experts reconnus de la médecine fœtale et de l’intelligence artificielle, vous pouvez combiner plusieurs types de facteurs de risque et signes visibles à l’échographie pour optimiser votre performance diagnostique et réduire le risque d’erreurs sur plus de 300 syndromes diagnosticables en anténatal, et en temps réel.
Sonio Diagnostics est marqué CE et réservé aux professionnels de l’échographie fœtale, et intervient en complément de leur expertise.


Rejouez votre diagnostic avec Sonio Diagnostics
Lors d’un rapide RDV, partagez avec nous les signes que vous avez repérés à l’échographie, nous rejouerons l’examen dans Sonio Diagnostics. Ces rendez-vous sont réservés aux professionnels de santé.
References
- N Zhang, Q Zeng, C Chen, J Yu, X Zhang. Distribution, diagnosis, and treatment of pulmonary sequestration: Report of 208 cases. J Pediatr Surg. 2019 Jul;54(7):1286-1292.
- J-H Hung, S-H Shen, W-Y Guo, C-Y Chen, K-C Chao, M-J Yang, C-Y S Hung. Prenatal diagnosis of pulmonary sequestration by ultrasound and magnetic resonance imaging. J Chin Med Assoc. 2008 Jan;71(1):53-7.
- R Ruano, A Benachi, M-C Aubry, Y Revillon, S Emond, Y Dumez, M Dommergues. Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound. Ultrasound Obstet Gynecol. 2005 Feb;25(2):128-33.
- M R Curtis, D P Mooney, T J Vaccaro, J C Williams, M Cendron, N A Shorter, S K Sargent
- Prenatal ultrasound characterization of the suprarenal mass: distinction between neuroblastoma and subdiaphragmatic extralobar pulmonary sequestration. J Ultrasound Med. 1997 Feb;16(2):75-83.
- Min Kyong Cho, Mi-Young Lee, Jisik Kang, Juhee Kim, Hye-Sung Won, Pil-Ryang Lee, Euiseok Jeong, Byong Sop Lee, Ellen Ai-Rhan Kim, Heemang Yoon, Jin Seoung Lee, Minkyu Han. Prenatal sonographic markers of the outcome in fetuses with bronchopulmonary sequestration. J Clin Ultrasound. 2020 Feb;48(2):89-96.
- G Xu, J Zhou, S Zeng, M Zhang, Z Ouyang, Y Zhao, H Yuan, L Tong, C Yin, Q Zhou. Prenatal diagnosis of fetal intraabdominal extralobar pulmonary sequestration: a 12-year 3-center experience in China Sci Rep. 2019 Jan 30;9(1):943.
- Z A D L-Ureña, S Sadowinski-Pine, L Jamaica-Balderas, [Pulmonary sequestration associated with congenital pulmonary airway malformation]. J Penchyna-Grub.. Bol Med Hosp Infant Mex. 2018;75(2):119-126.
- A Bhide, D Murphy, B Thilaganathan, J S Carvalho. Prenatal findings and differential diagnosis of scimitar syndrome and pulmonary sequestration. Ultrasound Obstet Gynecol. 2010 Apr;35(4):398-404.
- E. Ben Jemia Ben Zekri, S. Zairi, M. Abdenadher et H. Zribi, « Séquestration pulmonaire diagnostiquée à l’âge adulte : à propos de 25 cas », Revue des Maladies Respiratoires, 23e Congrès de Pneumologie de Langue Française, vol. 36, 1er janvier 2019, A205–A206
- Harriet J Corbett et Gillian M.E Humphrey, « Pulmonary sequestration », Paediatric Respiratory Reviews, vol. 5, no 1, mars 2004, p. 59–68.
- Monni G, Paladini D, Ibba RM, et al. Prenatal ultrasound diagnosis of congenital cystic malformation of the lung: a report of 26 cases and review of the literature. Ultrasound Obstet Gynecol 2000; 16: 159–62
- Adzick NS, Harrison MR, Crombleholme TM, et al. Fetal lung lesions: management and outcome. Am J Obstet Gynecol 1998;179: 884–9
- Lopoo JB, Goldstein RB, Lipshultz GS, et al. Fetal pulmonary sequestration: a favourable congenital lung lesion. Obstet Gynecol 1999; 94: 567–71
- Pumbergera W, Hörmann M, Deutingerc J, et al. Longitudinal observation of antenatally detected congenital lung malformations (CLM): natural history, clinical outcome and long-term follow-up. Eur J Cardiothorac Surg 2003; 24: 703–11
- Avni EF, Vanderelst A, Van Gansbeke D, et al. Antenatal diagnosis of pulmonary tumors: report of two cases. Pediatr Radiol 1986; 16: 190–2