Abstract
Pallister − Hall syndrome is a rare malformation that involves the presence of a suprasellar hamartoma and associated malformations. Prenatal diagnosis is also rare, and few cases have been reported using magnetic resonance imaging (MRI). A 35-year-old G5P2A2 woman at the 35th week of gestation was referred to our service. Fetal MRI showed an isointense image in the suprasellar region, pushing the brainstem up and backward, and compressing the vermis and cerebellum on T2-weighted images. On T1-weighted images, the hypointense signal of the tumor was similar to that of the brain parenchyma. Ultrasound images showed a suprasellar mass, which was more echogenic than the normal cerebral parenchyma, posteriorly pushing the brain stem, with involvement of the vermis of the tumor and compression of the posterior fossa. Three-dimensional reconstruction using MRI scan data showed a space view of the tumor and its relationships with the other brain tissues allowing better understanding by parents and multidisciplinary team.
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All authors contributed to the study conception and design. Material preparation, and were performed by PTC and FMP-F. Analysis was performed by GR and JL. The first draft of the manuscript was written by EA. Supervision was performed by HW. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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Video S1: Three-dimensional reconstruction of magnetic resonance imaging of a fetus at the 35th gestational week who presented with hamartoma. The suprasellar tumor (lilac) pushes posteriorly to the structures of the brainstem and posterior fossa (yellow). The proportion of tumor volume and the fetal head was also visible. (MP4 6554 KB)
Video S2: Ultrasound images of the head of a fetus in the 35th gestational week presenting a supracellar tumor (hamartoma). The tumor presents an important vascularization in the power Doppler image. The tumor and vermis are contiguous and more echogenic than the normal cerebral parenchyma. Axial and sagittal images. (MP4 9821 KB)
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Castro, P.T., Lopes, J., Ribeiro, G. et al. Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings. J Ultrasound (2023). https://doi.org/10.1007/s40477-023-00782-8
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DOI: https://doi.org/10.1007/s40477-023-00782-8