nach oben

Erschienen in:

11.09.2024 | Review

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging

verfasst von: Gustavo Dalul Gomez, Diogo Goulart Corrêa, Bárbara Trapp, Izabela Rodrigues Figueiredo, Henrique Bortot Zuppani, Sara Kingston, Ivan Caznok Lima, Tomás de Andrade Lourenção Freddi

Erschienen in: Japanese Journal of Radiology | Ausgabe 1/2025

Einloggen, um Zugang zu erhalten

Abstract

Holoprosencephaly (HPE) is a complex forebrain congenital malformation with widely variable outcomes. It represents a disorder of ventral induction, which begins in the fifth gestational week. Its main feature is forebrain cleavage failure, which prevents the brain complete division into right and left hemispheres, the normal development of midline structures, and the deep brain structure. Based on the severity of prosencephalic cleavage failure, three classic forms (lobar, semilobar, and alobar) were described, and subsequently, interhemispheric variant (syntelencephaly) and septopreoptic variants were proposed. This review proposes a practical imaging approach to diagnosing HPE spectrum disorders, allowing an easier recognition and earlier diagnosis, which is essential for prenatal care and adequate parental counseling. In addition, we intend to simplify the understanding of HPE through a didactic discussion, schematic illustrations, and descriptions of each entity’s current classification and critical neuroimaging features, as well as the main differential diagnosis of HPE.

Calloni SF, Caschera L, Triulzi FM. Disorders of ventral induction/spectrum of holoprosencephaly. Neuroimaging Clin N Am. 2019;29:411–21. https://doi.org/10.1016/j.nic.2019.03.003.CrossRefPubMed

Winter TC, Kennedy AM, Woodward PJ. Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 2015;35:275–90. https://doi.org/10.1148/rg.351140040.CrossRefPubMed

Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview. 2000 Dec 27 [Updated 2020 Mar 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1530/

Demyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964;34:256–63.CrossRefPubMed

Levey EB, Stashinko E, Clegg NJ, Delgado MR. Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010;154C(1):183–90. https://doi.org/10.1002/ajmg.c.30254.CrossRefPubMed

Cohen MM Jr. Holoprosencephaly: a mythologic and teratologic distillate. Am J Med Genet C Semin Med Genet. 2010;154C(1):8–12. https://doi.org/10.1002/ajmg.c.30252.CrossRefPubMed

Yi L, Liu Z, Deng C, Li X, Wang K, Deng K, et al. Epidemiological characteristics of holoprosencephaly in China, 2007–2014: a retrospective study based on the national birth defects surveillance system. PLoS ONE. 2019;14: e0217835. https://doi.org/10.1371/journal.pone.0217835.CrossRefPubMedPubMedCentral

Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010;154C:13–21. https://doi.org/10.1002/ajmg.c.30233.CrossRefPubMed

Blaas HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Møllerløkken G, et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002;19(1):24–38. https://doi.org/10.1046/j.0960-7692.2001.00154.x.CrossRefPubMed

10.

Blaas H-GK. Holoprosencephaly. In: Copel JA, D’Alton ME, Feltovich H, Gratacós E, Krakow D, Odibo AO, Platt LD, Tutschek B, editors. Obstetric imaging: fetal diagnosis and care. New York: Elsevier; 2018. p. 190–204. https://doi.org/10.1016/B978-0-323-44548-1.00039-5.CrossRef

11.

Müller F, O’rahilly R. Embryonic development of the central nervous system. In: The human nervous system. New York: Elsevier; 2004. p. 22–48.CrossRef

12.

Fotos J, Olson R, Kanekar S. Embryology of the brain and molecular genetics of central nervous system malformation. Semin Ultrasound CT MR. 2011;32:159–66. https://doi.org/10.1053/j.sult.2011.02.011.CrossRefPubMed

13.

Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, et al. Atelencephalic aprosencephaly. J Child Neurol. 1994;9:412–6. https://doi.org/10.1177/088307389400900416.CrossRefPubMed

14.

Volpe P, Campobasso G, De Robertis V, Rembouskos G. Disorders of prosencephalic development. Prenat Diagn. 2009;29:340–54. https://doi.org/10.1002/pd.2208.CrossRefPubMed

15.

Monuki ES. Forebrain development: holoprosencephaly (HPE). In: Lemke G, editor. Developmental neurobiology. 1st ed. London: Elselvier; 2009. p. 105–15.

16.

Monuki ES. The morphogen signaling network in forebrain development and holoprosencephaly. J Neuropathol Exp Neurol. 2007;66(7):566–75. https://doi.org/10.1097/nen.0b013e3180986e1b.CrossRefPubMed

17.

Jansen AC, Keymolen K. Fetal and neonatal neurogenetics. In: Handbook of clinical neurology. New York: Elsevier; 2019. p. 105–32.

18.

du Plessis Volpe JJ. Prosencephalic development. In: Volpe JJ, Inder TE, Darras BT, de Vries LS, du Plessis AJ, Neil J, Perlman JM, editors. Volpe’s Neurology of the Newborn. 6th ed. New York: Elsevier; 2018. p. 34–56.CrossRef

19.

Barkovich JA, Raybaud C. Anomalies of ventral prosencephalon development. In: Barkovich AJ, Raybaud C, editors. Pediatric neuroimaging. 6th ed. New York: Lippincott Williams & Wilkins; 2018. p. 494–500.

20.

Cheng X, Hsu CM, Currle DS, Hu JS, Barkovich AJ, Monuki ES. Central roles of the roof plate in telencephalic development and holoprosencephaly. J Neurosci. 2006;26(29):7640–9. https://doi.org/10.1523/JNEUROSCI.0714-06.2006.CrossRefPubMedPubMedCentral

21.

Kurokawa R, Kurokawa M, Mitsutake A, Nakaya M, Baba A, Nakata Y, et al. Clinical and neuroimaging review of triplet repeat diseases. Jpn J Radiol. 2023;41:115–30. https://doi.org/10.1007/s11604-022-01343-5.CrossRefPubMed

22.

Abramyan J. Hedgehog signaling and embryonic craniofacial disorders. J Dev Biol. 2019;7:9. https://doi.org/10.3390/jdb7020009.CrossRefPubMedPubMedCentral

23.

Demyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963;23:1–36. https://doi.org/10.1159/000104278.CrossRefPubMed

24.

Demyer W, Zeman W, Palmer CD. Familial Alobar Holoprosencephaly (Arhinencephaly) with median cleft lip and palate. report of patient with 46 chromosomes. Neurology. 1963;13:913–8. https://doi.org/10.1212/Wnl.13.11.913.CrossRefPubMed

25.

Hahn JS, Barnes PD. Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 2010;154C:120–32. https://doi.org/10.1002/ajmg.c.30238.CrossRefPubMed

26.

Raam MS, Solomon BD, Muenke M. Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr. 2011;48:457–66. https://doi.org/10.1007/s13312-011-0078-x.CrossRefPubMedPubMedCentral

27.

Golden JA. Holoprosencephaly. In: Encyclopedia of neuroscience. New York: Elsevier; 2009. p. 1181–7.CrossRef

28.

Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993;14:431–40.PubMedPubMedCentral

29.

Monuki ES. Forebrain development: holoprosencephaly (HPE). In: Encyclopedia of neuroscience. New York: Elsevier; 2009. p. 303–13.CrossRef

30.

Tortori-Donati P, Rossi A, Biancheri R. Brain malformations. In: Pediatric neuroradiology: head, neck and spine. Berlin: Springer; 2004. p. 86–99.

31.

Fallet-Bianco C. Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 2018;178:214–28. https://doi.org/10.1002/ajmg.c.31623.CrossRefPubMed

32.

Osaka K, Matsumoto S. Holoprosencephaly in neurosurgical practice. J Neurosurg. 1978;48:787–803. https://doi.org/10.3171/jns.1978.48.5.0787.CrossRefPubMed

33.

Albayram S, Melhem ER, Mori S, Zinreich SJ, Barkovich AJ, Kinsman SL. Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem–initial experience. Radiology. 2002;223:645–51. https://doi.org/10.1148/radiol.2233011197.CrossRefPubMed

34.

Kaliaperumal C, Ndoro S, Mandiwanza T, Reidy F, McAuliffe F, Caird J, et al. Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 2016;32:801–9. https://doi.org/10.1007/s00381-016-3015-4.CrossRefPubMed

35.

Griffiths PD, Jarvis D. In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 2016;37:536–43. https://doi.org/10.3174/ajnr.A4572.CrossRefPubMedPubMedCentral

36.

Rollins N. Semilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking. AJNR Am J Neuroradiol. 2005;26:2148–52.PubMedPubMedCentral

37.

Ortiz B, Herrera DA, Vargas S. Aplicación clínica de las imágenes de resonancia magnética potenciadas en difusión y tractografía en un niño con holoprosencefalia [Clinical application of diffusion tensor imaging and tractography in a child with holoprosencephaly]. Biomedica. 2011;31:164–7. https://doi.org/10.1590/S0120-41572011000200002.CrossRefPubMed

38.

Weiss K, Kruszka PS, Levey E, Muenke M. Holoprosencephaly from conception to adulthood. Am J Med Genet C Semin Med Genet. 2018;178:122–7. https://doi.org/10.1002/ajmg.c.31624.CrossRefPubMed

39.

Kousa YA, du Plessis AJ, Vezina G. Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. 2018;178(2):206–13. https://doi.org/10.1002/ajmg.c.31618.CrossRefPubMed

40.

FieldStrength. Publication for the Philips MRI Community, Issue 43 May 2011, http://incenter.medical.philips.com/doclib/enc/fetch/2000/4504/577242/577256/588821/5050628/5314862/8033608/fs43.pdf%3fnodeid%3d9006795%26vernum%3d-2 [accessed 12 March 2021].

41.

Verschuuren S, Poretti A, Meoded A, Izbudak I, Huisman TAGM. Diffusion tensor imaging and fiber tractography in syntelencephaly. Neurographics. 2013;3:164–8. https://doi.org/10.3174/ng.4130066.CrossRef

42.

Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, et al. Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 2002;59:1860–5. https://doi.org/10.1212/01.wnl.0000037483.31989.b9.CrossRefPubMed

43.

Rajalakshmi PP, Gadodia A, Priyatharshini P. Middle interhemispheric variant of holoprosencephaly: a rare midline malformation. J Pediatr Neurosci. 2015;10:244–6. https://doi.org/10.4103/1817-1745.165678.CrossRefPubMedPubMedCentral

44.

Kalayci TO, Tekes A, Huisman TA, Poretti A. Chiari II malformation and syntelencephaly in a young woman: coincidence or pathogenetic association? Clin Neuroradiol. 2013;23:319–21. https://doi.org/10.1007/s00062-012-0191-9.CrossRefPubMed

45.

Yahyavi-Firouz-Abadi N, Poretti A, Idowu OR, Hoon AH Jr, Huisman TA, Izbudak I. Case 236: middle interhemispheric variant of holoprosencephaly. Radiology. 2016;281(3):969–74. https://doi.org/10.1148/radiol.2016150503.CrossRefPubMed

46.

Khan S, Vasung L, Marami B, Rollins CK, Afacan O, Ortinau CM, et al. Fetal brain growth portrayed by a spatiotemporal diffusion tensor MRI atlas computed from in utero images. Neuroimage. 2019;185:593–608. https://doi.org/10.1016/j.neuroimage.2018.08.030.CrossRefPubMed

47.

Lockwood Estrin G, Wu Z, Deprez M, Bertelsen Á, Rutherford MA, Counsell SJ, et al. White and grey matter development in utero assessed using motion-corrected diffusion tensor imaging and its comparison to ex utero measures. MAGMA. 2019;32:473–85. https://doi.org/10.1007/s10334-019-00743-5.CrossRefPubMedPubMedCentral

48.

Özdemir M, Turan A, Kavak RP. Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult. BJR Case Rep. 2019;5:20190035. https://doi.org/10.1259/bjrcr.20190035.CrossRefPubMedPubMedCentral

49.

Hahn JS, Barnes PD, Clegg NJ, Stashinko EE. Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol. 2010;31:1596–601. https://doi.org/10.3174/ajnr.A2123.CrossRefPubMedPubMedCentral

50.

Pascoe HM, Fink AM, Kumbla S. Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. Pediatr Radiol. 2020;50:863–8. https://doi.org/10.1007/s00247-020-04634-z.CrossRefPubMed

51.

Koob M, Weingertner AS, Gasser B, Oubel E, Dietemann JL. Thick corpus callosum: a clue to the diagnosis of fetal septopreoptic holoprosencephaly? Pediatr Radiol. 2012;42:886–90. https://doi.org/10.1007/s00247-011-2260-7.CrossRefPubMed

52.

Ghosh PS, Reid JR, Patno D, Friedman NR. Fetal magnetic resonance imaging in hydranencephaly. J Paediatr Child Health. 2013;49:335–6. https://doi.org/10.1111/jpc.12142.CrossRefPubMed

53.

Gezmu AM, Shifa JZ, Kgwarae C, Siamisang A. Hydranencephaly in a neonate: a literature review. Neurol India. 2020;68:199–201. https://doi.org/10.4103/0028-3886.279698.CrossRefPubMed

54.

Pavone P, Praticò AD, Vitaliti G, Ruggieri M, Rizzo R, Parano E, et al. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr. 2014;40:79. https://doi.org/10.1186/s13052-014-0079-1.CrossRefPubMedPubMedCentral

55.

Kuwashima S. Fetal MRI of the supratentorial brain abnormalities: what we should know about ventriculomegaly? Jpn J Radiol. 2023;41:1323–30. https://doi.org/10.1007/s11604-023-01462-7.CrossRefPubMedPubMedCentral

56.

Zmistowski HM, Fox T, Baxter JK. Differential diagnosis of intracranial anomalies. J Diagn Med Sonogr. 2010;26:153–6. https://doi.org/10.1177/8756479310361376.CrossRef

57.

Sarwar M. The septum pellucidum: normal and abnormal. AJNR Am J Neuroradiol. 1989;10(5):989–1005.PubMedPubMedCentral

58.

Hakimi T, Mohammad QK. Bilateral open lip schizencephaly. Ann Med Surg (Lond). 2021;73: 103204. https://doi.org/10.1016/j.amsu.2021.103204.CrossRefPubMed

59.

Rege SV, Patil H. Bilateral giant open-lip schizencephaly: a rare case report. J Pediatr Neurosci. 2016;11:128–30. https://doi.org/10.4103/1817-1745.187638.CrossRefPubMedPubMedCentral

60.

Nabavizadeh SA, Zarnow D, Bilaniuk LT, Schwartz ES, Zimmerman RA, Vossough A. Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 2014;35(7):1418–24. https://doi.org/10.3174/ajnr.A3872.CrossRefPubMedPubMedCentral

Titel: Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging
verfasst von: Gustavo Dalul Gomez
Diogo Goulart Corrêa
Bárbara Trapp
Izabela Rodrigues Figueiredo
Henrique Bortot Zuppani
Sara Kingston
Ivan Caznok Lima
Tomás de Andrade Lourenção Freddi
Publikationsdatum: 11.09.2024
Verlag: Springer Nature Singapore
Erschienen in: Japanese Journal of Radiology / Ausgabe 1/2025
Print ISSN: 1867-1071
Elektronische ISSN: 1867-108X
DOI: https://doi.org/10.1007/s11604-024-01655-8

Claude 3.5 Sonnet indicated improved TNM classification on radiology report of pancreatic cancer

Letter to the Editor

Preliminary assessment of TNM classification performance for pancreatic cancer in Japanese radiology reports using GPT-4

Open Access
Original Article

A cross-national investigation of CT, MRI, PET, mammography, and radiation therapy resources and utilization

Original Article

PRMT1 promotes radiotherapy resistance in glioma stem cells by inhibiting ferroptosis

Original Article

Efficacy and safety of inflator-monitored balloon-occluded retrograde transvenous obliteration for gastric varices

Original Article

Prevalence of CT-detected extramural vascular invasion in gastric adenocarcinoma and its correlation with other known prognostic factors

Original Article

Neu im Fachgebiet Radiologie

KI-gestütztes Mammografiescreening überzeugt im Praxistest

16.01.2025
Künstliche Intelligenz im Gesundheitswesen
Nachrichten

Mit dem Einsatz künstlicher Intelligenz lässt sich die Detektionsrate im Mammografiescreening offenbar deutlich steigern. Mehr unnötige Zusatzuntersuchungen sind laut der Studie aus Deutschland nicht zu befürchten.

Stumme Schlaganfälle − ein häufiger Nebenbefund im Kopf-CT?

12.01.2025
Computertomografie
Nachrichten

In 4% der in der Notfallambulanz initiierten zerebralen Bildgebung sind „alte“ Schlaganfälle zu erkennen. Gar nicht so selten handelt es sich laut einer aktuellen Studie dabei um unbemerkte Insulte. Bietet sich hier womöglich die Chance auf ein effektives opportunistisches Screening?

Die elektronische Patientenakte kommt: Das sollten Sie jetzt wissen

12.01.2025
Elektronische Patientenakte
Nachrichten

Am 15. Januar geht die „ePA für alle“ zunächst in den Modellregionen an den Start. Doch schon bald soll sie in allen Praxen zum Einsatz kommen. Was ist jetzt zu tun? Was müssen Sie wissen? Wir geben in einem FAQ Antworten auf 21 Fragen.

Stören weiße Wände und viel Licht die Bildqualitätskontrolle?

09.01.2025
Mammografie
Nachrichten

Wenn es darum geht, die technische Qualität eines Mammogramms zu beurteilen, könnten graue Wandfarbe und reduzierte Beleuchtung im Bildgebungsraum von Vorteil sein. Darauf deuten zumindest Ergebnisse einer kleinen Studie hin.

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging

Abstract

Weitere Artikel der Ausgabe 1/2025

Claude 3.5 Sonnet indicated improved TNM classification on radiology report of pancreatic cancer

Preliminary assessment of TNM classification performance for pancreatic cancer in Japanese radiology reports using GPT-4

A cross-national investigation of CT, MRI, PET, mammography, and radiation therapy resources and utilization

PRMT1 promotes radiotherapy resistance in glioma stem cells by inhibiting ferroptosis

Efficacy and safety of inflator-monitored balloon-occluded retrograde transvenous obliteration for gastric varices

Prevalence of CT-detected extramural vascular invasion in gastric adenocarcinoma and its correlation with other known prognostic factors

Neu im Fachgebiet Radiologie

KI-gestütztes Mammografiescreening überzeugt im Praxistest

Stumme Schlaganfälle − ein häufiger Nebenbefund im Kopf-CT?

Die elektronische Patientenakte kommt: Das sollten Sie jetzt wissen

Stören weiße Wände und viel Licht die Bildqualitätskontrolle?

Update Radiologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten