Abstract

Introduction: Holoprosencephaly occurs due to non cleavage of forebrain into two hemispheres in an embryo. It is a rare congenital disorder of brain which may be associated with facial dysmorphism. Holoprosencephaly is defect of gastrulation. It is mainly divided into three main types viz alobar, semilobar and lobar holoprosencephaly. It may be associated with midline facial defects like cebocephaly, ethmocephaly or cyclopia.

Case Report: 22 year old gravid 2 para 1 young female presented to obstetric clinical unit for general obstetric checkup. A routine sonogram for fetal well being was advised as she has not undergone any sonography during course of this pregnancy. Sonographic biometric parameters suggested gestational age of 30 weeks and 1 day. Fetal brain and face assessment revealed absent interhemispheric fissure, monoventricle, fused thalami and posterior fossa cyst in brain with reduced interorbital distance and mono nostril in face.

Discussion: Holoprosencephaly is a complex brain malformation affecting both forebrain and face. It is estimated to affect 1:16000 live births and 1: 250 conceptuses. Holoprosencephaly may be associated with midline facial anomalies like cebocephaly. Depending on the type of holoprosencephaly severity varies like alobar type are more severe followed by semilobar type.

Conclusion: Alobar holoprosencephaly has poor prognosis and may be associated with facial dysmorphism which further reduces chances of survival of fetus. Thus, early detection by prenatal ultrasound examination is important for proper management which not only help in avoiding additional burden on physical health of pregnant female but also prevents mental constrains if diagnosed early.

Keywords: Hypotelorism; Mono Nostril; Monoventricle; Holoprosencephaly

References

1. Winter TC., et al. “Holoprosencephaly: a survey of entity, with embryology and fetal imaging”. RadioGraphics 1 (2015): 275-290.
2. Demyer W and Zeman W. “Alobar holoprosencephy (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic”. Confinia Neurologica 23 (1963): 1-36.
3. Dubourg C., et al. “Holoprosencephaly”. Orphanet Journal of Rare Diseases 2 (2007): 8.
4. Barkovich AJ and Quint DJ. “Middle interhemispheric fusion: an unusual variant of holoprosencephaly”. American Journal of Neuroradiology 2 (1993): 431-440.
5. Simon EM and Barkovich AJ. “Holoprosencephaly: new concepts”. Magnetic Resonance Imaging Clinics of North America1 (2001): 149-164.
6. Simon EM., et al. “The middle interhemispheric variant of holoprosencephaly”. American Journal of Neuroradiology 1 (2002): 151-155.
7. Takanshi J., et al. “Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria”. American Journal of Neuroradiology 3 (2003): 394-397.
8. Schroeder E and Allen M. “Albobar holoprosencephaly with cyclopia”. Applied Radiology 41 (2012): 45-46.
9. Diawara FM., et al. “Sonographic detection of holoprosencephaly with cyclopia and proboscis”. Journal of Diagnostic Medical Sonography 1 (2010): 28-31.
10. Clegg NJ., et al. “Holoprosencephaly: a review”. American Journal of Electroneurodiagnostic Technology2 (2002): 59-72.
11. Stashinko EE., et al. “A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly”. American Journal of Medical Genetics 2 (2004): 114-119.
12. Barr M and Cohen MM. “Holoprosencephaly survival and performance”. American Journal of Medical Genetics 2 (1999): 116-120.
13. Wenghoefer M., et al. “Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics”. Cleft Palate-Craniofacial Journal 1 (2010): 15-21.

Citation

Citation: Owais A Tantry and Richa Tyagi. “Alobar Holoprosencephaly Associated with Cebocephaly: A Case Report" Acta Scientific Clinical Case Reports 1.7 (2020): 27-30.

Copyright

Copyright: © 2020 Owais A Tantry and Richa Tyagi. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.