External hydrocephalus as a prenatal feature of Noonan Syndrome
| Autor: | Alessandro De Luca, Enrica Marchionni, Gioia Mastromoro, Antonio Pizzuti, Antonella Spagnuolo, Lucia Manganaro, Flavia Ventriglia |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Protein Tyrosine Phosphatase Non-Receptor Type 11 Prenatal diagnosis Fetal Finding 03 medical and health sciences Cerebrospinal fluid Pregnancy Prenatal Diagnosis Genetics medicine Humans external hydrocephalus fetal MRI Noonan syndrome prenatal diagnosis PTPN11 female humans hydrocephalus mutation noonan syndrome pregnancy protein tyrosine phosphatase non-receptor type 11 Genetics (clinical) 030304 developmental biology 0303 health sciences Fetus business.industry Noonan Syndrome 030305 genetics & heredity medicine.disease Mutation Cerebellar vermis Female Differential diagnosis business Hydrocephalus |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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