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PHACE(S) SYNDROME - EARLY DIAGNOSTICS IN THE MAXILLOFACIAL AREA
Natalia Kiseilyova1, Lyudmila Yakovenko2, Larisa Tyshko2
1BOGOMOLETS NATIONAL MEDICAL UNIVERSITY, KYIV, UKRAINE.
Insights
Early diagnosis of PHACE(S) syndrome in infants with infantile hemangioma is possible using MRI. This can identify presymptomatic cardiovascular and brain abnormalities, enabling timely intervention.
Area of Science:
- Pediatric Dermatology
- Medical Imaging
- Genetics and Rare Diseases
Background:
- Infantile hemangioma (IH) is a common vascular tumor in infants.
- PHACE(S) syndrome is a complex disorder associated with IH, affecting multiple organ systems.
- Early diagnosis of PHACE(S) syndrome is crucial for effective management and improved outcomes.
Purpose of the Study:
- To establish minimum criteria for the early diagnosis of PHACE(S) syndrome in neonates and infants.
- To identify key diagnostic indicators in infants presenting with maxillofacial infantile hemangioma.
Main Methods:
- Retrospective analysis of 26 asymptomatic infants with maxillofacial IH (>5 cm²).
- Evaluation of clinical data, Holter monitoring, echocardiography, and MRI.
- Assessment of cardiovascular and central nervous system abnormalities.
Main Results:
- PHACE(S) syndrome was diagnosed in two cases (8%) presenting with cardiovascular (aortic coarctation) and brain (Dandy-Walker malformation) abnormalities identified by MRI.
- These cases involved infants aged 12 months and 2.5 years with facial IH affecting several segments.
- Patent foramen ovale was noted in 35% of children; CNS disorders in 12%.
Conclusions:
- Contrast-enhanced MRI can facilitate early diagnosis of PHACE(S) syndrome in asymptomatic infants with facial IH.
- MRI is essential for detecting presymptomatic cardiovascular and brain abnormalities.
- Early identification enables timely intervention for PHACE(S) syndrome.
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.
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