PHACES syndrome associated with carcinoid endobronchial tumor

Pediatric Radiology
Nadia MamaKalthoum Tlili-Graiess

Abstract

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT. This is a unique case of PHACES syndrome associated with carcinoid tumor. Review of the literature revealed 3 cases of PHACES syndrome with glial tumor. The authors tried to find the relationship between PHACES syndrome and carcinoid tumors or gliomas, which all derive from the neural crest cells.

References

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Jan 19, 2008·AJNR. American Journal of Neuroradiology·Mauricio Castillo
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Citations

May 8, 2015·Indian Journal of Pediatrics·B Dakshayani, Asha Benakappa
Jun 22, 2017·Journal of Child Neurology·Emelina StambolliuAntonis A Kousoulis
Dec 6, 2018·Topics in Magnetic Resonance Imaging : TMRI·Felipe S BarrosBruno P Soares
Nov 20, 2015·Journal of Pediatric Hematology/oncology·Priyakumari ThankamonyVenugopal Muraleedharan
Oct 27, 2020·Frontiers in Genetics·Chiara PapulinoLucia Altucci

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