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A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate

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Abstract

Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral hemicerebral vascular dysgenesis in a neonate. Postnatal neuroimaging was conspicuous for a “bare orbit sign.” A unilateral cranial neurocristopathy was suspected to be an underlying etiopathology for such a diffuse defect.

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References

  1. Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ (2005) Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A 137(1):36–40

    Article  Google Scholar 

  2. Verma AS, Fitzpatrick DR (2007) Anophthalmia and microphthalmia. Orphanet J Rare Dis 2:47

    Article  Google Scholar 

  3. Acharya N, Reddy MS, Paulson CT, Prasanna D (2014) Cranio-orbital-temporal neurofibromatosis: an uncommon subtype of neurofibromatosis type-1. Oman J Ophthalmol 7(1):43–45

    Article  Google Scholar 

  4. Francois J (1961) Heredity in ophthalmology. C.V. Mosby, St Louis

    Google Scholar 

  5. Fargueta JS, Menezo JL, Bordes M (1973) Posterior orbital encephalocele with anopthalamos and other brain malformations. J Neurosurg 38:215–217

    Article  CAS  Google Scholar 

  6. Shen WC, Chen CC, Lee SK, Ho YJ, Lee KR (1993) Magnetic resonance imaging of cerebral hemiatrophy. J Formos Med Assoc 92(11):995–1000

    CAS  PubMed  Google Scholar 

  7. Singh P, Saggar K, Ahluwalia A (2010) Dyke–Davidoff–Masson syndrome: classical imaging findings. J Pediatr Neurosci 5(2):124–125

    Article  Google Scholar 

  8. Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM (2012) Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain 135:2416–2427

    Article  Google Scholar 

  9. Barkovich AJ (2012) Developmental disorders of the midbrain and hindbrain. Front Neuroanat 6:7

    Article  Google Scholar 

  10. Creuzet SE, Martinez S, Le Douarin NM (2006) The cephalic neural crest exerts a critical effect on forebrain and midbrain development. Proc Natl Acad Sci U S A 103(38):14033–14038

    Article  CAS  Google Scholar 

  11. Williams AL, Bohnsack BL (2015) Neural crest derivatives in ocular development: discerning the eye of the storm. Birth Defects Res C Embryo Today 105(2):87–95

    Article  CAS  Google Scholar 

  12. Nelms BL, Labosky PA (2010) Transcriptional control of neural crest development. Morgan & Claypool Life Sciences, San Rafael

    Book  Google Scholar 

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Correspondence to Om Prakash Jha.

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The authors have declared that they have no conflict of interest.

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A portion of the data was presented as a poster presentation at The American Society of Neuroimaging (ASN) meeting 2020, Atlanta, GA, USA.

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Singhapakdi, K., Maertens, P., Gonzalez, J. et al. A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate. Childs Nerv Syst 37, 329–334 (2021). https://doi.org/10.1007/s00381-020-04639-x

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  • DOI: https://doi.org/10.1007/s00381-020-04639-x

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