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
Case Reports
. 2021 Nov;85(6):249-252.
doi: 10.1111/ahg.12436. Epub 2021 Jun 2.

External hydrocephalus as a prenatal feature of noonan syndrome

Gioia Mastromoro  1 , Alessandro De Luca  2 , Enrica Marchionni  1 , Antonella Spagnuolo  3 , Flavia Ventriglia  4 , Lucia Manganaro  5 , Antonio Pizzuti  1   2
Affiliations
Case Reports

External hydrocephalus as a prenatal feature of noonan syndrome

Gioia Mastromoro et al. Ann Hum Genet. 2021 Nov.

Abstract

Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructive form of cerebrospinal fluid accumulation around the brain. It was described in a few patients with mutations of other genes than PTPN11, such as SOS1 and SHOC2 and never in prenatal diagnosis. The aim of this case report is to describe the prenatal presentation of a fetus with Noonan syndrome (NS) and external hydrocephalus. We report on a Noonan syndrome fetus with a de novo pathogenic PTPN11 c.923A>G p.Asn308Ser mutation, showing external hydrocephalus, an extremely rare fetal finding, corpus callosum, and cerebellar vermis under the 10th centile, plus a typical NS cardiopathy. This is the first case of Noonan syndrome prenatal diagnosis in a fetus presenting with external hydrocephalus. Following pathophysiological considerations, we suggest to consider NS in the differential diagnosis of external hydrocephalus, investigating other evocative findings and considering molecular screening for mutations in NS-related genes.

Keywords: External hydrocephalus; Noonan syndrome; PTPN11; fetal MRI; prenatal diagnosis.

PubMed Disclaimer

References

REFERENCES

    1. Barlow, C. F. (1984). CSF dynamics in hydrocephalus-With special attention to external hydrocephalus. Brain and Development, 6, 119-127. https://doi.org/10.1016/s0387-7604(84)80060-1.
    1. Cizmeci, M. N., Lequin, M., Lichtenbelt, K. D., Chitayat, D., Kannu, P., James, A. G., Groenendaal, F., Chakkarapani, E., Blaser, S., & de Vries, L. S., (2018). Characteristic MR Imaging findings of the neonatal brain in RASopathies. Am J Neuroradiol, 39, 1146-1152. https://doi.org/10.3174/ajnr.A5611.
    1. Ehrman, L. A., Nardini, D., Ehrman, S., Rizvi, T. A., Gulick, J., Krenz, M., Dasgupta, B., Robbins, J., Ratner, N., Nakafuku, M., & Waclaw, R. R., (2014). The protein tyrosine phosphatase Shp2 is required for the generation of oligodendrocyte progenitor cells and myelination in the mouse telencephalon. J Neurosci, 34, 3767-3778. https://doi.org/10.1523/JNEUROSCI.3515-13.2014.
    1. Fryns, J. P. (1997). Progressive hydrocephalus in Noonan syndrome. Clin Dysmorphol, 6, 379. https://doi.org/10.1097/00019605-199710000-00014.
    1. Gripp, K. W., Zand, D. J., Demmer, L., Anderson, C. E., Dobyns, W. B., Zackai, E. H., Denenberg, E., Jenny, K., Stabley, D. L., & Sol-Church, K. (2013). Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Am J Medl Genet Part A, 161A, 2420-2430. https://doi.org/10.1002/ajmg.a.36098.

Publication types

Substances

LinkOut - more resources