Cyclopia and proboscis - the extreme end of holoprosencephaly

Vol. 58 No. 4, 2017

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Andrei Mihai Malutan, Marina Dudea, Razvan Ciortea, Mihaela Muresan, Carmen Elena Bucuri, Carina Mihu, Dan Mihu

Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide the orbits of the eye in two cavities. We report the case of a 15-year-old pregnant patient, who delivered a 34-week living fetus with alobar HPE, cyclopia and proboscis. The patient did not have any routine scans during pregnancy; her first obstetrical exam was performed at 29 weeks of gestation (WG), when a prenatal ultrasound found a fetus with alobar HPE, cyclopia, proboscis, polydactyly and single umbilical artery. Despite adequate medical and genetic counseling, the patient and her legal representative refused further investigations - magnetic resonance imaging and genetic testing. She was admitted to the hospital at 34 WG for premature rupture of membranes, with clear amniotic fluid. Twenty-four hours later, she delivered vaginally a living male fetus, weighing 1995 g. Macroscopic examination revealed umbilical cord with two vessels, fetal proboscis, cyclopia, low implanted ears, bilateral polydactyly of the upper limbs, spina bifida occulta in the sacral region. The newborn lived for 40 minutes. Microscopy of the eyeball revealed choroid, ciliary body and conjunctiva structures, with no identification of the retina, and no evidence of the optic nerve in the fragments obtained from the optic chiasm region. This case underlines the importance of early obstetrical examinations during pregnancy and raises concerns about the ethics of allowing therapeutic termination of pregnancy after 24 WG in selected cases.

Corresponding author: Marina Dudea, MD, PhD Student; e-mail: marina.dudea@gmail.com

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