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

References

1. 1.↵
   1. Barkovich AJ

   . Pediatric Neuroimaging. 5th ed. Lippincott Williams & Wilkins; 2005:932
2. 2.↵
   1. Jissendi-Tchofo P,
   2. Doherty D,
   3. McGillivray G, et al

   . Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol 2009;30:113–19 doi:10.3174/ajnr.A1305 pmid:18842761

   Abstract/FREE Full Text
3. 3.↵
   1. Arrigoni F,
   2. Romaniello R,
   3. Peruzzo D, et al

   . Anterior mesencephalic cap dysplasia: novel brain stem malformative features associated with Joubert syndrome. AJNR Am J Neuroradiol 2017;38:2385–90 doi:10.3174/ajnr.A5360 pmid:28838911

   Abstract/FREE Full Text
4. 4.↵
   1. Blondiaux E,
   2. Valence S,
   3. Friszer S, et al

   . Prenatal imaging findings of pontine tegmental cap dysplasia: report of four cases. Fetal Diagn Ther 2019;45:197–204 doi:10.1159/000475989 pmid:28675887

   CrossRefPubMed
5. 5.↵
   1. Barth PG,
   2. Majoie CB,
   3. Caan MW, et al

   . Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007;130:2258–66 doi:10.1093/brain/awm188 pmid:17690130

   CrossRefPubMedWeb of Science
6. 6.↵
   1. Jurkiewicz E,
   2. Nowak K

   . Medullary cap dysplasia. Neurology 2015;84:102–03 doi:10.1212/WNL.0000000000001092 pmid:25548237

   Abstract/FREE Full Text
7. 7.↵
   1. Yagel S,
   2. Valsky DV

   . Re: ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system, Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet Gynecol 2021;57:173–74 doi:10.1002/uog.23559 pmid:33387414

   CrossRefPubMed
8. 8.↵
   1. Paladini D,
   2. Malinger G,
   3. Birnbaum R, et al

   . ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system, Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol 2021;57:661–71 doi:10.1002/uog.23616 pmid:33734522

   CrossRefPubMed
9. 9.↵
   1. Kidron D,
   2. Shapira D,
   3. Ben Sira L, et al

   . Agenesis of the corpus callosum: an autopsy study in fetuses. Virchows Arch 2016;468:219–30 doi:10.1007/s00428-015-1872-y pmid:26573426

   CrossRefPubMed
10. 10.↵
    1. Poretti A,
    2. Huisman TA,
    3. Scheer I, et al

    . Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32:1459–63 doi:10.3174/ajnr.A2517 pmid:21680654

    Abstract/FREE Full Text
11. 11.↵
    1. Poretti A,
    2. Snow J,
    3. Summers AC, et al

    . Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet 2017;54:521–29 doi:10.1136/jmedgenet-2016-104425pmid:28087721

    Abstract/FREE Full Text
12. 12.↵
    1. Poretti A,
    2. Vitiello G,
    3. Hennekam RC, et al

    . Delineation and diagnostic criteria of oral-facial-digital syndrome type VI. Orphanet J Rare Dis 2012;7:4 doi:10.1186/1750-1172-7-4 pmid:22236771

    CrossRefPubMed
13. 13.↵
    1. Tuz K,
    2. Bachmann-Gagescu R,
    3. O’Day DR, et al

    . Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet 2014;94:62–72 doi:10.1016/j.ajhg.2013.11.019 pmid:24360808

    CrossRefPubMed
14. 14.↵
    1. Severino M,
    2. Bertamino M,
    3. Tortora D, et al

    . Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva. J Med Genet 2016;53:859–64 doi:10.1136/jmedgenet-2016-104076 pmid:27565519

    Abstract/FREE Full Text
15. 15.↵
    1. Kan L,
    2. Kitterman JA,
    3. Procissi D, et al

    . CNS demyelination in fibrodysplasia ossificans progressiva. J Neurol 2012;259:2644–55 doi:10.1007/s00415-012-6563-x pmid:22736080

    CrossRefPubMed
16. 16.↵
    1. Barkovich AJ,
    2. Millen KJ,
    3. Dobyns WB

    . A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009;132:3199–230 doi:10.1093/brain/awp247 pmid:19933510

    CrossRefPubMedWeb of Science
17. 17.↵
    1. Akyuz G,
    2. Gencer-Atalay K,
    3. Ata P

    . Fibrodysplasia ossificans progressiva: lessons learned from a rare disease. Curr Opin Pediatr 2019;31:716–22 doi:10.1097/MOP.0000000000000802 pmid:31693578

    CrossRefPubMed
18. 18.↵
    1. Abdelhamed ZA,
    2. Natarajan S,
    3. Wheway G, et al

    . The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech 2015;8:527–41 doi:10.1242/dmm.019083 pmid:26035863

    Abstract/FREE Full Text
19. 19.↵
    1. Harbert MJ,
    2. Gleeson JG

    . Classifying a novel brain malformation. Brain 2007;130:2242–44 doi:10.1093/brain/awm194 pmid:17711979

    CrossRefPubMed
20. 20.↵
    1. Briguglio M,
    2. Pinelli L,
    3. Giordano L, et al

    ; CBCD Study Group, Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis 2011;6:36 doi:10.1186/1750-1172-6-36 pmid:21651769

    CrossRefPubMed
21. 21.↵
    1. Illingworth MA,
    2. Meyer E,
    3. Chong WK, et al

    . PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Mol Genet Metab 2014;112:183–89 doi:10.1016/j.ymgme.2014.03.008 pmid:24745848

    CrossRefPubMed
22. 22.↵
    1. Al-Maawali A,
    2. Yoon G,
    3. Feigenbaum AS, et al

    . Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology 2016;58:1035–42 doi:10.1007/s00234-016-1726-6 pmid:27516098

    CrossRefPubMed
23. 23.↵
    1. Papandreou A,
    2. Soo AKS,
    3. Spaull R, et al

    . Expanding the spectrum of early neuroradiologic findings in β propeller protein-associated neurodegeneration. AJNR Am J Neuroradiol 2022;43:1810–14 doi:10.3174/ajnr.A7693 pmid:36328404

    Abstract/FREE Full Text
24. 24.↵
    1. Boltshauser E,
    2. Isler W

    . Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 1977;8:57–66 doi:10.1055/s-0028-1091505 pmid:576733

    CrossRefPubMedWeb of Science
25. 25.↵
    1. Adam MP,
    2. Everman DB,
    3. Mirzaa GM, et al

    1. Gregory A,
    2. Kurian MA,
    3. Haack T, et al

    . Beta-propeller protein-associated neurodegeneration. In: Adam MP, Everman DB, Mirzaa GM, et al. eds. GeneReviews University of Washington; Seattle; 1993–2023
26. 26.↵
    1. Ferland RJ,
    2. Eyaid W,
    3. Collura RV, et al

    . Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004;36:1008–13 doi:10.1038/ng1419 pmid:15322546

    CrossRefPubMedWeb of Science
27. 27.↵
    1. Yachnis AT,
    2. Rorke LB

    . Neuropathology of Joubert syndrome. J Child Neurol 1999;14:655–59 doi:10.1177/088307389901401006 pmid:10511338

    CrossRefPubMedWeb of Science
28. 28.↵
    1. Poretti A,
    2. Boltshauser E,
    3. Loenneker T, et al

    . Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007;28:1929–33 doi:10.3174/ajnr.A0703 pmid:17898198

    Abstract/FREE Full Text
29. 29.↵
    1. Cadman CJ,
    2. Fraser L,
    3. McArthur C

    . Case 266: pontine tegmental cap dysplasia. Radiology 2019;291:814–18 doi:10.1148/radiol.2018162304 pmid:31116692

    CrossRefPubMed
30. 30.↵
    1. Guo J,
    2. Otis JM,
    3. Suciu SK, et al

    . Primary cilia signaling promotes axonal tract development and is disrupted in Joubert syndrome-related disorders models. Dev Cell 2019;51:759–74.e5 doi:10.1016/j.devcel.2019.11.005 pmid:31846650

    CrossRefPubMed
31. 31.↵
    1. Doherty D

    . Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 2009;16:143–54 doi:10.1016/j.spen.2009.06.002 pmid:19778711

    CrossRefPubMed
32. 32.↵
    1. Komatsu Y,
    2. Kaartinen V,
    3. Mishina Y

    . Cell cycle arrest in node cells governs ciliogenesis at the node to break left-right symmetry. Development 2011;138:3915–20 doi:10.1242/dev.068833 pmid:21831921

    Abstract/FREE Full Text
33. 33.↵
    1. Mori S,
    2. Suzuki SO,
    3. Honda H, et al

    . Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva. Neuropathology 2021;41:146–51 doi:10.1111/neup.12715 pmid:33404144

    CrossRefPubMed
34. 34.↵
    1. Yong Y,
    2. Hunter-Chang S,
    3. Stepanova E, et al

    . Axonal spheroids in neurodegeneration. Mol Cell Neurosci 2021;117:103679 doi:10.1016/j.mcn.2021.103679 pmid:34678457

    CrossRefPubMed
35. 35.↵
    1. Liu Z,
    2. He Y,
    3. Li S, et al

    . Brainstem tethering with Ondine’s curse. World Neurosurg 2011;76:592.e11–14 doi:10.1016/j.wneu.2011.03.020 pmid:22251510

    CrossRefPubMed
36. 36.↵
    1. Buyse GG,
    2. Caekebeke J,
    3. Demaerel P, et al

    . Primary brain stem tethering: a rare cause of geniculate neuralgia. J Laryngol Otol 1999;113:945–47 doi:10.1017/s0022215100145670 pmid:10664718

    CrossRefPubMed