Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report
Author
dc.contributor.author
Rodríguez, Fernando Adrián
Author
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Castellón, Loreto
Author
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Moreno, Regina
Author
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Páez, Eduardo
Author
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Aracena Álvarez, María Inés
Admission date
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2020-05-08T14:11:33Z
Available date
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2020-05-08T14:11:33Z
Publication date
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2020
Cita de ítem
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Birth Defects Research. 2020;1–8.
es_ES
Identifier
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10.1002/bdr2.1659
Identifier
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https://repositorio.uchile.cl/handle/2250/174578
Abstract
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We report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha-2a to avoid recurrence. She has remained in treatment with successful results during her follow up. Considerable reduction of both maxilla and mandible lesions and bone fill have been documented. In addition, her clinical history and phenotype were suggestive of Noonan syndrome. She has short stature, broad and short neck; hypertelorism (increased distance between the eyes); downslanting palpebral fissures; sparse eyebrows and eyelashes; posteriorly rotated ears with fleshy lobes; follicular keratosis over the face, and developmental delay. Her karyotype was 46, XX. Molecular analysis of RAS/MAPK pathway genes showed a SOS1 amino acid substitution of arginine to lysine at position 552 (p.R552K). This case presents the infrequent condition of Noonan syndrome with multiple giant cell lesions (NS/MGCL) that would be the first patient as far as we know treated with surgery and interferon alpha-2a for her giant cell lesions.