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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis

K.J. Heaphy-Henault, C.V. Guimaraes, A.R. Mehollin-Ray, C.I. Cassady, W. Zhang, N.K. Desai and M.J. Paldino
American Journal of Neuroradiology May 2018, 39 (5) 942-948; DOI: https://doi.org/10.3174/ajnr.A5590
K.J. Heaphy-Henault
aFrom the Department of Radiology (K.J.H.-H.), Hartford Hospital, Hartford, Connecticut
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C.V. Guimaraes
bDepartment of Radiology (C.V.G., A.R.M.-R., C.I.C., N.K.D., M.J.P.)
dDepartment of Radiology (C.V.G.), Stanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, California.
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A.R. Mehollin-Ray
bDepartment of Radiology (C.V.G., A.R.M.-R., C.I.C., N.K.D., M.J.P.)
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C.I. Cassady
bDepartment of Radiology (C.V.G., A.R.M.-R., C.I.C., N.K.D., M.J.P.)
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W. Zhang
cOutcomes and Impact Service (W.Z.), Texas Children's Hospital, Houston, Texas
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N.K. Desai
bDepartment of Radiology (C.V.G., A.R.M.-R., C.I.C., N.K.D., M.J.P.)
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M.J. Paldino
bDepartment of Radiology (C.V.G., A.R.M.-R., C.I.C., N.K.D., M.J.P.)
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    Fig 1.

    Sagittal single-shot fast spin-echo sequence of a 32-week fetus demonstrating normal midline anatomy. Note the fully formed corpus callosum (white arrows), normal tectum (black arrow), a patent cerebral aqueduct with normal intraluminal proportions (white arrowhead), and a normal fourth ventricle (asterisk). Note also the normal expected midline morphology of the third ventricle (light gray shaded area) with normal supraoptic and infundibular third ventricular recesses (black arrowheads).

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    Fig 2.

    Sagittal balanced steady-state free precession sequence from fetal MR imaging (A) of a 33-week fetus and a postnatal sagittal T1-weighted sequence (B) of the same patient demonstrating stenosis of the inferior cerebral aqueduct with associated aqueductal funneling (arrow). As a result, there is marked enlarged of the lateral and third ventricles with dilation of the inferior third ventricular recesses (white arrowheads) depicted by bowing of the lamina terminalis and inferior third ventricular floor. The corpus callosum is thin and superiorly bowed (black arrowheads). Note also the normal size of the fourth ventricle.

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    Fig 3.

    Fetal MR imaging of a 30-week fetus (A) and postnatal MR imaging correlation (B) of prenatally diagnosed aqueductal stenosis with tectal thickening and loss of intercollicular sulcus (arrows). There is subtle early prominence of the supraoptic recess of the third ventricle on fetal MR imaging (white arrowhead), which progressed to more obvious dilation of both supraoptic and infundibular recesses on postnatal imaging (white arrowheads). Note also the presence of a superiorly bowed and thinned corpus callosum (black arrowheads).

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    Fig 4.

    A single-shot fast spin-echo sequence in the axial planes (A and B) through the fetal head in a 23-week fetus and postnatal axial T2-weighted sequence (C and D) demonstrate asymmetric lateral ventriculomegaly with focal parenchymal disruption resulting in a posterior ventricular diverticulum (black arrowheads). Note also perforation of the septum pellucidum in A and C (arrow). Within the posterior fossa (B and D), there are a small transverse cerebellar diameter, absence of the cerebellar vermis, midline fusion of cerebellar folia, and a convex posterior cerebellar contour (white arrowheads), compatible with rhombencephalosynapsis.

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    Fig 5.

    T2-weighted EPI sequences of 2 different fetuses with aqueductal stenosis demonstrating T2-hypointense hemorrhage within the cerebral aqueduct (A) in a 21-week fetus (white arrow) and within the lateral ventricles (B) in a 23-week fetus (black arrows).

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    Fig 6.

    Single-shot fast spin-echo sagittal midline (A) and axial posterior fossa (B) images in a 34-week fetus with multiple findings of dystroglycanopathy suggesting Walker-Warburg syndrome. Postnatal correlation includes a sagittal T1-weighted sequence (C) and an axial T2-weighted sequence (D). Sagittal views of both pre- and postnatal MR imaging demonstrate a hypoplastic kinked brain stem (white arrowheads) and a markedly hypoplastic cerebellar vermis. Note also the dysplastic midbrain with thickening of the tectum causing stenosis of the cerebral aqueduct (arrows). Lateral and third ventricles are markedly enlarged. Incidentally noted was a small occipital cephalocele (asterisk). Axial views show cerebellar dysplasia with irregular cerebellar margins (black arrowheads) and multiple small cerebellar cysts, which account for the increased white matter T2 signal on fetal MR imaging (asterisk). Note also a midline pontine cleft (white arrowheads in B and D), another common finding in Walker-Warburg syndrome.

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    Fig 7.

    Random forest variable importance plot. This graphic shows the importance (x-axis) of each evaluated prenatal MR imaging finding (y-axis) with respect to the diagnosis of CAS. The independent contribution of each prenatal finding was estimated as the error of CAS classification by the machine-learning algorithm compared with the error that results when that finding is negated. The most important imaging findings associated with an accurate diagnosis of CAS are highlighted in red. Dominant findings include enlargement of the third ventricle inferior recesses, size of the lateral and third ventricles (especially enlargement of the smaller lateral ventricle), and an abnormally thin and/or dysgenetic corpus callosum. AS indicates aqueductal stenosis.

Tables

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    Table 1:

    Imaging findings associated with AS

    Direct FindingsFindings Secondary to Obstructive HydrocephalusFindings of Associated Malformations
    Aqueduct funnelingEnlarged third ventricular recessesAbnormal sulcation
    Blood in the aqueductEnlarged ventricular temporal hornsBrain stem abnormality
    Tectal thickeningPerforated septum pellucidumCerebellar hypoplasia
    Lateral ventricular diverticulumCerebellar dysplasia
    Callosal thinning and/or dysgenesisRhombencephalosynapsis
    MacrocephalyFourth ventricular dilation
    Vermian hypoplasia
    • Note:—AS indicates aqueductal stenosis.

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    Table 2:

    Univariate analysis of categorical variables on prenatal MRI

    Categorical VariableControl (n = 32)AS (n = 43)Adjusted P ValueSensitivity (95% CI)Specificity (95% CI)PPV (95% CI)NPV (95% CI)
    Enlarged inferior 3rd ventricular recesses1 (3.1%)31 (72%)<.0023a72 (56–85)97 (84–100)97 (84–100)72 (56–85)
    Lateral ventricular diverticulum1 (3.1%)15 (35%).0276a35 (21–51)97 (84–100)94 (70–100)53 (39–66)
    Callosal thinning and/or dysgenesis16 (50%)40 (93%)<.0023a93 (81–99)50 (32–68)71 (58–83)84 (60–97)
    Aqueductal funneling0 (0%)9 (21%).190921 (10–36)100 (89–100)100 (60–100)48 (36–61)
    Blood in the aqueduct0 (0%)3 (7%)17.0 (1.5–19)100 (89–100)100 (29–100)44 (33–57)
    Rhombencephalosynapsis0 (0%)4 (9.3%)19.3 (2.6–22.1)100 (89–100)100 (40–100)45 (33–57)
    Cerebellar dysplasia0 (0%)7 (16%).411716 (6.8–31)100 (89–100)100 (59–100)47 (35–60)
    Tectal plate thickening2 (6.3%)12 (28%).43728 (15–44)94 (79–99)86 (57–98)49 (36–62)
    Intracranial hemorrhage2 (6.3%)15 (35%).103535 (21–51)94 (79–99)88 (64–99)52 (38–65)
    Enlarged ventricular temporal horns20 (63%)40 (93%).057593 (81–99)38 (21–56)67 (53–78)80 (52–96)
    Macrocephaly4 (13%)17 (40%).248440 (25–56)88 (71–96)81 (58–95)52 (38–66)
    Cerebellar hypoplasia12 (38%)5 (12%).271412 (3.9–25)63 (44–79)29 (10–56)34 (22–48)
    Vermian hypoplasia4 (13%)9 (21%)121 (10–36)88 (71–96)69 (39–91)45 (32–58)
    Brain stem abnormality4 (13%)10 (23%)123 (12–39)88 (71–96)71 (42–92)46 (33–59)
    Fourth ventricle dilation3 (9.4%)4 (9.3%)19.3 (2.6–22)91 (75–98)57 (18–90)43 (31–55)
    Abnormal sulcation8 (25%)10 (23%)123 (12–39)75 (57–89)56 (31–78)42 (29–56)
    Perforated septum pellucidum14 (44%)29 (67%)167 (51–81)56 (38–74)67 (51–81)56 (38–74)
    • Note:—NPV indicates negative predictive value; PPV, positive predictive value; AS, aqueductal stenosis.

    • ↵a Significant.

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American Journal of Neuroradiology: 39 (5)
American Journal of Neuroradiology
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Cite this article
K.J. Heaphy-Henault, C.V. Guimaraes, A.R. Mehollin-Ray, C.I. Cassady, W. Zhang, N.K. Desai, M.J. Paldino
Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis
American Journal of Neuroradiology May 2018, 39 (5) 942-948; DOI: 10.3174/ajnr.A5590

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Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis
K.J. Heaphy-Henault, C.V. Guimaraes, A.R. Mehollin-Ray, C.I. Cassady, W. Zhang, N.K. Desai, M.J. Paldino
American Journal of Neuroradiology May 2018, 39 (5) 942-948; DOI: 10.3174/ajnr.A5590
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