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Research ArticlePediatrics

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

M. Gafner, C. Garel, Z. Leibovitz, S. Valence, K. Krajden Haratz, R. Oegema, G.M.S. Mancini, D. Heron, E. Bueltmann, L. Burglen, D. Rodriguez, T.A.G.M. Huisman, M.H. Lequin, A. Arad, D. Kidron, M. Muqary, L. Gindes, D. Lev, E. Boltshauser and T. Lerman-Sagie
American Journal of Neuroradiology March 2023, 44 (3) 334-340; DOI: https://doi.org/10.3174/ajnr.A7805
M. Gafner
aFrom the Department of Pediatrics B (M.G.), Schneider Children’s Medical Center of Israel, Petach Tikva, Israel
bSackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel
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C. Garel
cDepartment of Radiology (C.G.)
dReference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d’Enfants Armand-Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
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Z. Leibovitz
eObstetrics and Gynecology Ultrasound Unit (Z.L.), Bnai-Zion Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
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S. Valence
dReference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d’Enfants Armand-Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
fService de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
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K. Krajden Haratz
bSackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel
gDivision of Ultrasound in ObGyn (K.K.H.), Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
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R. Oegema
hDepartments of Genetics (R.O.)
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G.M.S. Mancini
jDepartment of Clinical Genetics (G.M.S.M.), Erasmus MC University Medical Center, GD Rotterdam, the Netherlands
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D. Heron
dReference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d’Enfants Armand-Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
kService de Génétique Clinique (D.H.), Hôpital de la Pitié-Salpêtrière, Assistance Publique–Hôpitaux de Paris, Paris, France
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E. Bueltmann
lInstitute of Diagnostic und Interventional Neuroradiology (E. Bueltmann), Hannover Medical School, Hannover, Germany
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L. Burglen
dReference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d’Enfants Armand-Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
fService de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
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D. Rodriguez
dReference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d’Enfants Armand-Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
fService de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique–Hôpitaux de Paris, Paris, France
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T.A.G.M. Huisman
mEdward B. Singleton Department of Radiology (T.A.G.M.H.), Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas
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M.H. Lequin
iRadiology (M.H.L.), University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands
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A. Arad
nDepartment of Pathology (A.A.), Bnai-Zion Medical Center, Haifa, Israel
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D. Kidron
oDepartment of Pathology (D.K.), Meir Medical Center, Kfar Saba, Israel
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M. Muqary
pDepartment of Obstetrics and Gynecology (M.M.), Poriya Medical Center, Tiberias, Galilee, Israel
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L. Gindes
bSackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel
qDepartment of Obstetrics and Gynecology (L.G.)
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D. Lev
bSackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel
rThe Rina Mor Institute of Medical Genetics (D.L.)
sFetal Neurology Clinic (D.L., T.L.-S.)
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E. Boltshauser
vPediatric Neurology (Emeritus) (E. Boltshauser), Children’s University Hospital, Zürich, Switzerland
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T. Lerman-Sagie
bSackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel
sFetal Neurology Clinic (D.L., T.L.-S.)
tMagen Center for Rare Diseases (T.L.-S.)
uPediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon, Israel
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    FIG 1.

    Illustration of the medullary cap morphologic characteristics: A, Smooth; B, Stick sign; C, Globular; D, Step sign; E, Caterpillar sign.

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    FIG 2.

    MR imaging and ultrasound showing the medullary cap in 12 patients, midsagittal view. A, Patient 1; B, Patient 2; C, Patient 3; D, Patient 4; E, Patient 5; F, Patient 6; G, Patient 7; H, Patient 8; I, Patient 9; J, Patient 11; K, Patient 12; L, Patient 13. Of note, patient 10’s MR imaging is separately shown in the Online Supplemental Data.

  • FIG 3.
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    FIG 3.

    A, Axial microscopy photograph of the medulla oblongata of patient 2 at 35 gestational weeks. The right-posterior bulge of the medulla oblongata (RMO) contains many mature neurons, consistent with a hamartoma, connected to the cerebellum. The inferior olivary nuclei (ON) are well-developed, and the pyramidal tracts (PT) are intact. B, Postmortem photograph of patient 3 depicts the fetal posterior fossa after removal of the occipital bone, performed at 17 gestational weeks. Note the thickening and internal rotation of the RMO, producing the medullary cap shape. Cbl indicates cerebellum; FM, opening of the foramen of Magendi.

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American Journal of Neuroradiology: 44 (3)
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Cite this article
M. Gafner, C. Garel, Z. Leibovitz, S. Valence, K. Krajden Haratz, R. Oegema, G.M.S. Mancini, D. Heron, E. Bueltmann, L. Burglen, D. Rodriguez, T.A.G.M. Huisman, M.H. Lequin, A. Arad, D. Kidron, M. Muqary, L. Gindes, D. Lev, E. Boltshauser, T. Lerman-Sagie
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
American Journal of Neuroradiology Mar 2023, 44 (3) 334-340; DOI: 10.3174/ajnr.A7805

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Medullary Tegmental Cap Dysplasia Presentations
M. Gafner, C. Garel, Z. Leibovitz, S. Valence, K. Krajden Haratz, R. Oegema, G.M.S. Mancini, D. Heron, E. Bueltmann, L. Burglen, D. Rodriguez, T.A.G.M. Huisman, M.H. Lequin, A. Arad, D. Kidron, M. Muqary, L. Gindes, D. Lev, E. Boltshauser, T. Lerman-Sagie
American Journal of Neuroradiology Mar 2023, 44 (3) 334-340; DOI: 10.3174/ajnr.A7805
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