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Case Reports
. 2021 Dec;37(12):3963-3966.
doi: 10.1007/s00381-021-05149-0. Epub 2021 Apr 3.

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome

Alessandra D'Amico  1 , Maria Brunella Cipullo  2 , Mariateresa Falco  3 , Lorenzo Ugga  1 , Daniela Melis  3
Affiliations
Case Reports

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome

Alessandra D'Amico et al. Childs Nerv Syst. 2021 Dec.

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.

Keywords: DSC-PWI; MRI; Noonan syndrome; RASopathy; UBO.

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References

    1. Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013) Noonan syndrome. Lancet Elsevier Ltd 381(9863):333–342. https://doi.org/10.1016/S0140-6736(12)61023-X - DOI
    1. de Jong M, Schieving J, Goraj B (2011) Remarkable intra-cerebral lesions on MRI in a patient with Noonan syndrome. Eur J Radiol Extra 78(1):e17–e19 https://linkinghub.elsevier.com/retrieve/pii/S157146751100006X - DOI
    1. Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K (2013) Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Am J Med Genet Part A 161A(10):2420–2430 http://doi.wiley.com/10.1002/ajmg.a.36098 - PubMed
    1. Hartill VL, Dillon MW, Warren DJ, Blyth M (2017) RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations. Clin Dysmorphol 26(2):101–106 http://journals.lww.com/00019605-201704000-00009 - DOI
    1. Hung P-C, Wang H-S, Wong AM-C (2011) Moyamoya syndrome in a child with Noonan syndrome. Pediatr Neurol 45(2):129–131 https://linkinghub.elsevier.com/retrieve/pii/S0887899411001925 - DOI

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