ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2021
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Signal Abnormalities in Noonan Syndrome are Probably Consistent with Focal Areas of Signal Intensity (FASI).Clinical neuroradiology · 2024Article
- Neurosurgical aspects of Noonan syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- MRI and MR neurography features of a patient with Noonan syndrome associated with diffuse thickening of peripheral and cranial nerves.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome (NS) is an autosomal dominant disease caused by aberrant up-regulated signaling through RAS GTPase. It is characterized by facial dysmorphisms, short stature, congenital heart defects, malformations of rib cage bones, bleeding problems, learning difficulties, or mild intellectual disability. Additional intracranial findings in NS patients include tumors, midline anomalies, and malformations of cortical development. In this report, we present the case of a young female patient, with a known diagnosis of Noonan syndrome that in complete well being developed two brain lesions, in the right nucleus pallidus and in the left cerebellar hemisphere respectively, whose location and signal on MRI looked similar to neurofibromatosis type 1 unidentified bright objects (UBOs), and whose spectroscopic characteristics excluded neoplasms.
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