PHACE syndrome - our experience (CROSBI ID 578999)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Saftić, Vanja ; Mejaški-Bošnjak, Vlatka ; Rešić, Arnes
engleski
PHACE syndrome - our experience
Introduction: Aim of this paper is to present four female patients with confirmed PHACE syndrome. PHACE Syndrome (OMIM 606519) was presented by Pascual-Castroviejo in 1978. PlIACE is an acronym for a neurocutaneous disorder with a wide spectrum of anomalies including posterior cranial fossa malformations (P), segmental haemangiomas (H), arterial anomalies (A), aortic coarctation and other cardiac defects (C), eye abnormalities (E) and sternal malformation or stenotic arterial diseases. The underlying cause is still unknown. Cases are sporadic, predominantly in females. Methods: We prospectively followed our 4 patients, with PHACE syndrome, according to the new diagnostic criteria. All of our four, female patients, have a large segmental facial hemangioma >5 cm. Three of them have magnetic resonance imaging features of hypoplastic cerebellum. One patient has intraorbital hemangioma, Tetralogia Fallot, hipoplastic optic disc, dysgenesis of intracranial part of a. vertebralis, and absence of left carotic artery. Two patients have liver hemangioma. Diagnosis was confirmed by clinical features as well as imaging findings. Results and Conclusions: We systematically evaluated our four female patients for manifestations of PHACE syndrome and established diagnosis of PHACE syndrome within the first 3-8 weeks of life. According to the new diagnostic criteria all our patients have full expression of PHACE syndrome symptoms. The presence of a facial hemangioma larger than 5 cm, necessitates further evaluation for the extracutaneous features of PHACE syndrome.
PHACE syndrome
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Podaci o prilogu
71-72.
2011.
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objavljeno
Podaci o matičnoj publikaciji
European journal of paediatric neurology
Lagae, Lieven
1090-3798
Podaci o skupu
9th Congress of the European Paediatric Neurology Society
poster
11.05.2011-14.05.2011
Cavtat, Hrvatska