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.

External hydrocephalus as a prenatal feature of Noonan Syndrome / Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A.. - In: ANNALS OF HUMAN GENETICS. - ISSN 0003-4800. - 85:6(2021), pp. 249-252. [10.1111/ahg.12436]

External hydrocephalus as a prenatal feature of Noonan Syndrome

Mastromoro G.
Primo
;
Marchionni E.;Ventriglia F.;Manganaro L.
Penultimo
;
Pizzuti A.
Ultimo
2021

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.
external hydrocephalus; fetal MRI; Noonan syndrome; prenatal diagnosis; PTPN11; female; humans; hydrocephalus; mutation; noonan syndrome; pregnancy; protein tyrosine phosphatase; non-receptor type 11
01 Pubblicazione su rivista::01i Case report
External hydrocephalus as a prenatal feature of Noonan Syndrome / Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A.. - In: ANNALS OF HUMAN GENETICS. - ISSN 0003-4800. - 85:6(2021), pp. 249-252. [10.1111/ahg.12436]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1619691
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