A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report

A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report

Alobar holoprosencephaly(HPE) is a rare, severe, complex human brain malformation. We describe a case of cyclopia with alobar HPE identified at 40 weeks of gestation by 2-dimensional (2D) and 3D transabdominal ultrasound (US).A 27-year-old woman, gravida5, para4, abortion0, was referred to our department at 40 weeks of gestation; she was experiencing labor pains and had a nonreactive non-stress test. The mother had received no regular antenatal care, and no sonography was performed during pregnancy. Both 2D and 3D US revealed alobar HPE and cyclopia. The baby was born by vaginal delivery shortly thereafter and then died after birth. On examination, the face had a single, large median eye and no nose.  Alobar HPE and cyclopia can be diagnosed by US early during pregnancy. Early diagnosis is important to allow for early termination of pregnancy and to minimize the physiological and psychological impact of such anomalies on the mother and family.

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  • References: 1. Roach E, Demyer W, Conneally PM, Palmer C, et al. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294-313.
  • 2. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977;16:261–72.
  • 3. Demyer W., Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 1963, 23:1-36
  • 4. Rathod S, Samal SK, Begum J. Holoprosencephaly with cyclopia: a rare case report. Int J Otorhinolaryngol Head Neck Surg 2015;1:37-9
  • 5. Liu DP, Burrowes DM, Qureshi MN. Cyclopia: craniofacial appearance on MR and three-dimensional CT. AJNR Am J Neuroradiol. 1997 Mar;18(3):543-6.
  • 6. Källén B, Castilla EE, Lancaster PA, Mutchinick O, et al. The cyclops and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet. 1992 Jan;29(1):30-5.
  • 7. Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study. Am J Med Genet. 2000;90(4):320-5.8.
  • 8. Salama GS, Kaabneh MA, Al-Raqad MK, Al-Abdallah IM, et al. Cyclopia: a rare condition with unusual presentation - a case report. Clin Med Insights Pediatr. 2015 Feb 9;9:19-23.
  • 9. Ozden S, Fiçicioğlu C, Kara M, Oral O, et al. Agnathia-holoprosencephaly-situs inversus. Am J Med Genet. 2000;91(3):235-6. P10.
  • 10. Tonni G, Ventura A, Centini G, De Felice C. First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. Congenit Anom (Kyoto). 2008;48(1):51-5.