PHACE(S) SYNDROME - EARLY DIAGNOSTICS IN THE MAXILLOFACIAL AREA.

OBJECTIVE

The aim: To determine the minimum criteria for early diagnosing PHACE(S) syndrome in neonates and infants with infantile hemangioma (IH) in the max¬illofacial area.

PATIENTS AND

METHODS

Materials and methods: A total of 26 asymptomatic children from 20 days to six months of aged with IH of more than 5 cm² in the maxillofacial area were included in this study. A medical record of patients clinical examination, Holter monitoring, echocardiographic ultrasound and magnetic resonance imaging (MRI) were analysed. The IH treatment with β-blockers was carried out.

RESULTS

Results

IH localization was diagnosed: 62% with a lesion of a part facial segment, 23% in one segment, 15% in several segments (p=0.018), and 12% with other parts of the body lesion (p=1.000). The patent foramen ovale was diagnosed in 35% of children. Central nervous system disorders were observed in 12% over two years of age. The indices of Holter monitoring and blood glucose changed in age norm range during treatment. Cardiovascular (the aortic coarctation (p=0.003) and brain (the Dandy-Walker malformation) (p=0.031) abnormalities were determined in two cases (8%) according to the MRI only. We diagnosed PHACE(S) syndrome in both these cases of children, only aged 12 months and 2.5 years old.

CONCLUSION

Conclusions

Early diagnosis of PHACE(S) syndrome is possible on a contrast-enhanced MRI performed in asymptomatic neonates and infants with the facial several segmental IH with / without ulceration (p=0.018, p=0.046; p < 0.05) for recognition of presymptomatic cardiovascular and brain abnormalities.