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  • Title: Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.
    Author: Sepulveda W, Sepulveda F.
    Journal: J Matern Fetal Neonatal Med; 2022 Jul; 35(14):2751-2758. PubMed ID: 32723018.
    Abstract:
    OBJECTIVE: To describe the main prenatal sonographic and magnetic resonance imaging (MRI) features leading to the diagnosis of Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities (PHACE) syndrome. The literature was also reviewed in order to determine the main neuroimaging features of fetuses with this condition. RESULTS: The index case was referred at 24 weeks' gestation with the probable diagnosis of Dandy-Walker malformation. Prenatal sonographic examination revealed hypoplasia of the left cerebellar hemisphere, hypoplasia of the cerebellar vermis, and enlarged cisterna magna (the "tilted telephone receiver sign"). Fetal MRI at 30 weeks confirmed the findings and also revealed an ipsilateral retrocerebellar cyst communicating with the asymmetrical dilated fourth ventricle, upward displacement of the left cerebellar hemisphere, and elevation of the ipsilateral tentorium. Postnatally, a large left facial segmental hemangioma as well as ipsilateral vascular intracranial malformations were identified, confirming the diagnosis of PHACE syndrome. A review of the literature revealed 11 reports describing 22 fetuses with prenatal imaging studies, including ours, confirming the high prevalence of specific posterior fossa abnormalities associated with PHACE syndrome. CONCLUSION: Our case and those reported in the literature support the observation that PHACE syndrome presents with characteristic features affecting the posterior fossa, which can be identified through prenatal sonography and fetal MRI.
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