Rhombencephalosynapsis: prenatal imaging and autopsy findings

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
F McAuliffeS Blaser

Abstract

Rhombencephalosynapsis is a rare, but increasingly recognized, brain malformation characterized by congenital fusion of the cerebellar hemispheres and absence of the vermis. Rhombencephalosynapsis is associated with significant developmental delay, seizures and involuntary head movements. We report four cases, with correlation of prenatal and postnatal imaging and autopsy findings. Over a 2-year period, four cases of rhombencephalosynapsis were diagnosed in the perinatal period, three in one center and one in another center. The clinical cases were reviewed, and correlation was made between the prenatal and postnatal imaging and autopsy findings where available. All cases presented initially with ventriculomegaly on prenatal ultrasound examination. Subsequent magnetic resonance imaging (MRI) established the diagnosis in two cases and postnatal MRI established the diagnosis in a further two cases. Autopsy was available and confirmed the diagnosis in two cases. In one case the pregnancy was terminated, two infants died in the neonatal period and one died in infancy. The cases in this perinatal series of rhombencephalosynapsis showed a very poor prognosis. The presence of ventriculomegaly on prenatal ultrasound imaging should aler...Continue Reading

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Citations

Nov 28, 2008·Journal of Neurosurgery. Pediatrics·Robert Elliott, David H Harter
Dec 6, 2008·Acta Neuropathologica·Laurent PasquierAnnie Laquerrière
Jan 23, 2009·Journal of Neuroradiology. Journal De Neuroradiologie·P DillT A G M Huisman
Mar 26, 2016·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Resul ArisoyCuma Yorganci
Oct 24, 2014·Neuroradiology·Patrice Jissendi-TchofoAnthony James Barkovich
Aug 8, 2015·The Neuroradiology Journal·Claudia CotesRoy Riascos
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Catherine Fallet-Bianco
May 5, 2021·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K Krajden HaratzG Malinger
Dec 27, 2021·World Neurosurgery·Mohammed A FoudaAlan R Cohen

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