Naslov
PHACE syndrome - our experience

Autori
Saftić, Vanja ; Mejaški-Bošnjak, Vlatka ; Rešić, Arnes

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
European Journal of Paediatric Neurology, Volume 15, Supplement 1, May 2011. Programme and Abstracts of EPNS 2011, 9th Congress of the European Paediatric Neurology Society, Cavtat, Croatia, May 11- 14, 2011 / Lagae, Lieven - , 2011, 71-72

Skup
9th Congress of the European Paediatric Neurology Society

Mjesto i datum
Cavtat, Hrvatska, 11.05.2011. - 14.05.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
PHACE syndrome

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA