Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly

Haratz, K.K.; Szejnfeld, Patricia Oliveira; Govindaswamy, M.; Leibovitz, Z.; Gindes, L.; Severino, Mariasavina; Rossi, Andrea; Paladini, D.; Rodríguez, R. García; Ben-Sira, Liat; Tillman, T. Borkowski; Gupta, Rachna; Lotem, G.; Raz, Nili; Hamamoto, Tatiana Emy Nishimoto Kawanami; Kidron, Debora; Arad, Ayala; Birnbaum, R.; Brussilov, M.; Pomar, Léo; Vial, Yvan; Leventer, Richard J.; McGillivray, George; Fink, Anne; Krzeszowski, Waldemar; Moron, Antônio Fernandes; Lev, Dina; Tamarkin, Mordechai; Shalev, Josef; Toov, J. H.; Lerman‐Sagie, Tally; Malinger, G.

doi:10.1002/uog.23660

Cited by 10 publications

(10 citation statements)

References 52 publications

(85 reference statements)

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“…RES should be suspected and ruled out in every fetus with a reduction of the transverse cerebellar diameter (TCD below the third centile). In the axial plane, an abrupt change in orientation between the lateral and posterior aspects of the cerebellum is visualized; its combination with vallecular flattening or absence results in a specific bell‐like (or round) shape of the single‐lobed cerebellum 4 (Figìures 1 and 2).…”

Section: Rhombencephalosynapsismentioning

confidence: 99%

“…Rhombencephalosynapsis (RES) is a rare malformation characterized by fusion of the cerebellar hemispheres with vermian aplasia and hypoplasia (total or partial). The genetic basis is still unknown, and the majority of cases are presumed to be sporadic and related to de novo dominant mutations 4 . Cerebellar development begins around the 6th gestational week with the proliferation of neuroblasts at the rhombomere 1 (R1 segment) of the anterior hindbrain; RES is presumed to be consistent with a defect arising early thereafter 5,6 .…”

Section: Rhombencephalosynapsismentioning

confidence: 99%

“…Cerebellar development begins around the 6th gestational week with the proliferation of neuroblasts at the rhombomere 1 (R1 segment) of the anterior hindbrain; RES is presumed to be consistent with a defect arising early thereafter 5,6 . Patients with RES can present with a variety of clinical symptoms and neurodevelopmental outcomes; while the malformation can rarely be an incidental finding in otherwise normal individuals, more frequently it is part of complex syndromes (VACTERL‐RES, Gomez‐Lopez‐Hernandez, and others) with severe neurological impairment 4 …”

Section: Rhombencephalosynapsismentioning

confidence: 99%

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Second trimester fetal MRI of the brain: Through the ground glass

Fileva

Severino

Tortora

et al. 2023

J of Clinical Ultrasound

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Fetal MRI is an important tool for the prenatal diagnosis of brain malformations and is often requested after second-trimester ultrasonography reveals a possible abnormality. Despite the immature state of the fetal brain at this early stage, early suggestive signs of the presence of brain malformations can be recognized. To differentiate between the normal dynamics of the growing brain and the developing pathological conditions can be challenging and requires extensive knowledge of normal central nervous system developmental stages and their neuroradiological counterparts at those different stages. This article reviews the second-trimester appearances of some commonly encountered brain malformations, focusing on helpful tricks and subtle signs to aid in the diagnosis of such conditions as rhombencephalosynapsis, various causes of vermian rotation, molar tooth spectrum anomalies, diencephalicmesencephalic junction dysplasia, ganglionic eminence anomalies, and the most common malformations of cortical development.

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Section: Rhombencephalosynapsismentioning

confidence: 99%

Section: Rhombencephalosynapsismentioning

confidence: 99%

Section: Rhombencephalosynapsismentioning

confidence: 99%

See 1 more Smart Citation

Second trimester fetal MRI of the brain: Through the ground glass

Fileva

Severino

Tortora

et al. 2023

J of Clinical Ultrasound

Self Cite

View full text Add to dashboard Cite

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“…The genes responsible for this malformation are unknown. RES is usually a sporadic malformation, but it may be part of Gomez–Lopez–Hernandez syndrome, VACTERL, or holoprosencephaly [ 124 ].…”

Section: Malformations Of the Posterior Fossamentioning

confidence: 99%

“…RES may be complicated by hydrocephalus. Cases with partial RES associated with other CNS or systemic anomalies may have abnormal neurodevelopment [ 124 ].…”

Section: Malformations Of the Posterior Fossamentioning

confidence: 99%

Fetal Brain Development: Regulating Processes and Related Malformations

Leibovitz

Lerman‐Sagie

Haddad

2022

Life

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This paper describes the contemporary state of knowledge regarding processes that regulate normal development of the embryonic–fetal central nervous system (CNS). The processes are described according to the developmental timetable: dorsal induction, ventral induction, neurogenesis, neuronal migration, post-migration neuronal development, and cortical organization. We review the current literature on CNS malformations associated with these regulating processes. We specifically address neural tube defects, holoprosencephaly, malformations of cortical development (including microcephaly, megalencephaly, lissencephaly, cobblestone malformations, gray matter heterotopia, and polymicrogyria), disorders of the corpus callosum, and posterior fossa malformations. Fetal ventriculomegaly, which frequently accompanies these disorders, is also reviewed. Each malformation is described with reference to the etiology, genetic causes, prenatal sonographic imaging, associated anomalies, differential diagnosis, complimentary diagnostic studies, clinical interventions, neurodevelopmental outcome, and life quality.

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Associations and outcomes of prenatally detected rhombencephalosynapsis

Kunpalin,

Miller,

Raghuram

et al. 2024

Prenatal Diagnosis

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ObjectiveTo describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES).Study designThirty‐four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered. In cases of termination of pregnancy, we studied the association between prenatal imaging and neuropathologic findings. For those who opted for expectant management, comprehensive developmental assessments and postnatal MRI imaging were evaluated.ResultsOver one third of fetuses in our cohort had complete RES. Common intracranial anomalies identified were mesencephalosynapsis, aqueduct stenosis and diencephalosynapsis. The degree of RES was not associated with the frequency of additional central nervous system anomalies. MRI had a good correlation with neuropathologic findings with regard to the degree of RES, aqueduct stenosis and mesencephalosynapsis. Postmortem autopsy showed that one third of our cases had VACTERL‐H and almost all of those had complete RES. All liveborn neonates(n = 6) had aqueduct stenosis requiring ventriculoperitoneal shunting within days of delivery (median 5 days). While a large proportion of prenatally suspected complete RES were found to have partial RES on postnatal imaging, prenatal diagnosis of aqueduct stenosis remained unchanged. All children that were at least 2 years old (n = 3) had global developmental delay.ConclusionPrenatal assessment of the RES severity is challenging and may be unreliable. Nevertheless, postnatal prognosis is poor for both complete and partial RES. Associated aqueductal stenosis, can be reliably assessed prenatally and this may contribute to worse postnatal prognosis than the degree of RES.

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Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly

Cited by 10 publications

References 52 publications

Second trimester fetal MRI of the brain: Through the ground glass

Second trimester fetal MRI of the brain: Through the ground glass

Fetal Brain Development: Regulating Processes and Related Malformations

Associations and outcomes of prenatally detected rhombencephalosynapsis

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