Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 May;89(6):1447-1451.
doi: 10.1038/s41390-020-1002-7. Epub 2020 Jun 9.

Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome

Denise L Chan  1   2 , Sean E Kennedy  3   4 , Vanessa E Sarkozy  3   4 , Clara W T Chung  3   4 , Danny Flanagan  3   4 , David Mowat  3   4 , Michelle A Farrar  3   4 , John A Lawson  3   4
Affiliations

Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome

Denise L Chan et al. Pediatr Res. 2021 May.

Abstract

Background: Literature regarding congenital subependymal giant cell astrocytomas (SEGA) is limited, and suggests they are at risk of rapid growth and complications. We sought to characterise the growth patterns of congenital SEGA. The second part of the study was an exploratory analysis of congenital SEGA as a possible biomarker for poor neurological outcome.

Methods: This single-centre case series describes ten patients with TSC who had SEGA diagnosed before 12 months. SEGA diameter and volumetric growth were analysed using serial MRIs. Neurological outcomes were compared to a genotype-matched group.

Results: All children with congenital SEGA had a TSC2 mutation. Patients were followed for 1-8.7 years, during which median SEGA growth rate was 1.1 mm/yr in diameter or 150 mm3/yr volumetrically. SEGA with volume > 500 mm3 had a significantly higher growth rate compared with smaller SEGA (462 mm3/yr vs. 42 mm3/yr, p = 0.0095). Children with congenital SEGA had a high prevalence of severe epilepsy, developmental disability and autism spectrum disorder.

Conclusion: Congenital SEGA can follow a relatively benign course with a lower growth rate compared with published literature. Frequent neuroimaging surveillance is recommended for congenital SEGA with volumes exceeding 500 mm3.

Impact: Congenital SEGA occur in 9.2% of paediatric patients with tuberous sclerosis complex. There are few published cases of congenital SEGA to date. This case series of ten patients adds our experience seen in a tertiary referral hospital over 10 years. Congenital SEGA can follow a relatively benign course with a lower growth rate compared with published literature. Congenital SEGA with volume exceeding 500 mm3 had a significantly higher growth rate compared with smaller SEGA and should have more frequent neuroimaging surveillance.

PubMed Disclaimer

References

    1. Ebrahimi-Fakhari, D. et al. Incidence of tuberous sclerosis and age at first diagnosis: New data and emerging trends from a national, prospective surveillance study. Orphanet J. Rare Dis. 13, 117 (2018). - DOI
    1. Peron, A., Au, K. S. & Northrup, H. Genetics, genomics, and genotype–phenotype correlations of TSC: insights for clinical practice. Am. J. Med. Genet. Part C Semin. Med. Genet. 178, 281–290 (2018). - DOI
    1. Adriaensen, M. et al. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur. J. Neurol. 16, 691–696 (2009). - DOI
    1. Roth, J. et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr. Neurol. 49, 439–444 (2013). - DOI
    1. Chan, D. L., Calder, T., Lawson, J. A., Mowat, D. & Kennedy, S. E. The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review. Rev. Neurosci. 29, 295–301 (2018). - DOI

Publication types

LinkOut - more resources