Prenatal diagnosis of brainstem anomalies

Haratz, K.K.; Lerman‐Sagie, Tally

doi:10.1016/j.ejpn.2018.06.011

Cited by 11 publications

(14 citation statements)

References 65 publications

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“…These dimensions were best assessed between 19th and 29th weeks of gestation; however, they did note that features of pontocerebellar hypoplasia sometimes will not present until the third trimester. 7 All infants born with cerebellar agenesis are symptomatic often immediately postpartum even though some amount of remnant cerebellar tissue can still be present, 3 as was the case with our patient. These infants will have developmental delays and extreme difficulty with coordination and gait.…”

Section: Discussionsupporting

confidence: 62%

Cerebellar Agenesis: A Case to Remember

Dennison

Tailor

2019

J Pediatr Neurol

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There is a wide range of congenital anomalies of the posterior fossa. Of these, absence of cerebellar components seems to exist on a spectrum, much like anomalies seen with the more frequently encountered Dandy–Walker malformation. Here, we present a rare case of cerebellar agenesis, as seen at our institution, which falls on the extreme side of the spectrum. We also discuss normal and aberrant posterior fossa development, established or hypothesized genetic causes of such development, and implications on cerebellar function.

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Section: Discussionsupporting

confidence: 62%

Cerebellar Agenesis: A Case to Remember

Dennison

Tailor

2019

J Pediatr Neurol

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“…Examples of those cases include PCH caused by mutations in the CASK gene or lissencephaly syndromes (mutations in RELN, VLDLR, and ARX). 41,50,68…”

Section: F I G U R E 1mentioning

confidence: 99%

“…The posterior fossa is usually normal in size (Figure 11). Brainstem involvement includes pontine hypoplasia (up to 25% of cases), absence or dysmorphic cerebellar peduncles (usually superior and middle), and midbrain anomalies (50%) with aqueductal stenosis and fusion of the colliculi 41 . Partial RES types have been described in only two case series and identified solely by MRI in midgestation 42…”

Section: Rhombencephalosynapsismentioning

confidence: 99%

Fetal MRI assessment of posterior fossa anomalies: A review

Miller

Orman

Huisman

2021

Journal of Neuroimaging

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Prenatal ultrasound (US) is the first prenatal imaging tool for screening and evaluation of posterior fossa malformations since it is noninvasive, widely available, and safe for both mother and child. Fetal MRI is a widely used secondary technique to confirm, correct, or complement questionable US findings and plays an essential role in evaluating fetuses with suspected US findings and /or positive family history. The main sequences of fetal MRI consist of T2-weighted (T2w) ultrafast, single-shot sequences. Axial, coronal, and sagittal images are typically acquired allowing for a detailed evaluation of the posterior fossa contents. Also, various complimentary sequences, such as T1w, T2*w gradient sequences, or advanced techniques, including diffusion-weighted imaging, diffusion tensor imaging, and magnetic resonance spectroscopy, may provide additional information based on the studied malformation. Inclusion of these techniques should be done with careful risk-benefit analysis. The use of fetal MRI also aims to evaluate for associated anomalies. In addition, prenatal diagnosis of posterior fossa malformations is still a challenge but advances in knowledge in human developmental anatomy, genetic, and imaging recognition patterns have enabled us to shed some light on prognostic information that will help with the counseling of families. Finally, high-resolution late third trimester fetal MRI offers a safe alternative to early postnatal MR imaging, basically taking advantage of the uterine environment as a kind of "maternal incubator." Our goal is to discuss the spectrum of prenatal posterior fossa pathologies that can be studied by fetal MRI and their key neuroimaging features.

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“…Diencephalic-mesencephalic junction (DMJ) dysplasia is a rare malformation characterized by an ill-defined junction between the diencephalon and mesencephalon and clinical features of spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy and developmental delay 1 . It is a potential cause of developmental hydrocephalus and results from the altered anteroposterior and dorsoventral patterning and positioning processes [2][3][4] . The types of DMJ dysplasia are (1) Type A, which is characterized by hypothalamic-mesencephalic fusion in an axial plane, with midbrain ventral cleft, and (2) Type B, which is characterized by incomplete thalamic-mesencephalic cleavage in a sagittal plane, with parenchymal bands connecting the interthalamic adhesion to the midbrain 1 .…”

Section: Prenatal Ultrasound Signs Of Diencephalicmesencephalic Junction Dysplasiamentioning

confidence: 99%

Prenatal ultrasound signs of diencephalic–mesencephalic junction dysplasia

Shah¹

2019

Ultrasound in Obstet & Gyne

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Prenatal diagnosis of brainstem anomalies

Cited by 11 publications

References 65 publications

Cerebellar Agenesis: A Case to Remember

Cerebellar Agenesis: A Case to Remember

Fetal MRI assessment of posterior fossa anomalies: A review

Prenatal ultrasound signs of diencephalic–mesencephalic junction dysplasia

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