{"title":"PHACE诊断具有挑战性:我们是否应该扩大表型?","authors":"Stacy K Goergen, LuFee Wong, Michael C Fahey","doi":"10.1111/1754-9485.13804","DOIUrl":null,"url":null,"abstract":"<p><p>PHACE syndrome is a challenging but important prenatal diagnosis due to its protean clinical consequences. The 'tilted telephone receiver' sign (TTRS), consisting of asymmetric cerebellar volume reduction and marked counterclockwise, Dandy-Walker-like upward vermis rotation on prenatal MRI and ultrasound has high specificity for PHACE. Recently, a case report of the prenatal imaging findings in an infant with PHACE described more mild upward vermis rotation and cerebellar clefting. It recommended consideration of expansion of the currently accepted phenotype to improve prenatal detection of the condition. We describe a case with imaging features essentially indistinguishable from the recently published case of PHACE with mild upward vermis rotation, asymmetric cerebellar hemispheric volume loss and a cerebellar hemispheric cleft. Our patient did not have PHACE postnatally at 1 year of follow up. Neurodevelopmental testing in infancy demonstrated mildly atypical development. Fetuses with asymmetric cerebellar hemispheric volume loss, a cleft in the smaller hemisphere and only mild upward vermis rotation, consistent with the proposed 'expanded PHACE phenotype' do not always have PHACE. Erroneously adverse prenatal prognostic counselling may result from such prenatal phenotypic expansion.</p>","PeriodicalId":16218,"journal":{"name":"Journal of Medical Imaging and Radiation Oncology","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PHACEing a challenging diagnosis: Should we expand the phenotype?\",\"authors\":\"Stacy K Goergen, LuFee Wong, Michael C Fahey\",\"doi\":\"10.1111/1754-9485.13804\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>PHACE syndrome is a challenging but important prenatal diagnosis due to its protean clinical consequences. The 'tilted telephone receiver' sign (TTRS), consisting of asymmetric cerebellar volume reduction and marked counterclockwise, Dandy-Walker-like upward vermis rotation on prenatal MRI and ultrasound has high specificity for PHACE. Recently, a case report of the prenatal imaging findings in an infant with PHACE described more mild upward vermis rotation and cerebellar clefting. It recommended consideration of expansion of the currently accepted phenotype to improve prenatal detection of the condition. We describe a case with imaging features essentially indistinguishable from the recently published case of PHACE with mild upward vermis rotation, asymmetric cerebellar hemispheric volume loss and a cerebellar hemispheric cleft. Our patient did not have PHACE postnatally at 1 year of follow up. Neurodevelopmental testing in infancy demonstrated mildly atypical development. Fetuses with asymmetric cerebellar hemispheric volume loss, a cleft in the smaller hemisphere and only mild upward vermis rotation, consistent with the proposed 'expanded PHACE phenotype' do not always have PHACE. Erroneously adverse prenatal prognostic counselling may result from such prenatal phenotypic expansion.</p>\",\"PeriodicalId\":16218,\"journal\":{\"name\":\"Journal of Medical Imaging and Radiation Oncology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-10-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Imaging and Radiation Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/1754-9485.13804\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Imaging and Radiation Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/1754-9485.13804","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
PHACEing a challenging diagnosis: Should we expand the phenotype?
PHACE syndrome is a challenging but important prenatal diagnosis due to its protean clinical consequences. The 'tilted telephone receiver' sign (TTRS), consisting of asymmetric cerebellar volume reduction and marked counterclockwise, Dandy-Walker-like upward vermis rotation on prenatal MRI and ultrasound has high specificity for PHACE. Recently, a case report of the prenatal imaging findings in an infant with PHACE described more mild upward vermis rotation and cerebellar clefting. It recommended consideration of expansion of the currently accepted phenotype to improve prenatal detection of the condition. We describe a case with imaging features essentially indistinguishable from the recently published case of PHACE with mild upward vermis rotation, asymmetric cerebellar hemispheric volume loss and a cerebellar hemispheric cleft. Our patient did not have PHACE postnatally at 1 year of follow up. Neurodevelopmental testing in infancy demonstrated mildly atypical development. Fetuses with asymmetric cerebellar hemispheric volume loss, a cleft in the smaller hemisphere and only mild upward vermis rotation, consistent with the proposed 'expanded PHACE phenotype' do not always have PHACE. Erroneously adverse prenatal prognostic counselling may result from such prenatal phenotypic expansion.
期刊介绍:
Journal of Medical Imaging and Radiation Oncology (formerly Australasian Radiology) is the official journal of The Royal Australian and New Zealand College of Radiologists, publishing articles of scientific excellence in radiology and radiation oncology. Manuscripts are judged on the basis of their contribution of original data and ideas or interpretation. All articles are peer reviewed.