Iranian Journal of Neonatology

Iranian Journal of Neonatology

The neonate was born with holoprosencephaly

Document Type : Case Report

Authors
reza saeidi 1
abdolhosein abasi 2
1 associate Professor of neonatology, Neonatal Research Center, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2 fellow ship of neonatology, Neonatal Research Center, Imam Reza Hospital, Mashhad, Iran.
10.22038/ijn.2014.4147
Abstract
holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it
is the most common forebrain
developmental anomaly in humans with
prevalence of 1/16,000 in live borns, an
incidence as high as 1:250 in conceptuses,
and a worldwide distribution6. The
etiology of HPE is very heterogeneous.
First, this pathology can be caused by
environmental or metabolic factors. The
only formally recognized environmental
factors are insulin-dependent diabetes
mellitus (1% risk of HPE) and maternal
alcoholism with a risk that cumulates
with smoking
. Clinical expression is variable, extending in unbroken
sequence from a small brain with a single cerebral ventricle and cyclopia to
clinically unaffected carriers in familial holoprosencephaly.
Here.
we report a boy 39 weeks neonatal case of holoprosencephaly with Antenatal ultrasonographic diagnosis, with
microcephaly, hypotelorism, flat nose, a single
nostril, a midline cleft lip and palate
microcephaly.
Keywords
holoprosencephaly
midline facial anomalies
ultrasonographic diagnosis
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