SEMILOBAR HOLOPROSENCEPHALY CAUSED
BY A NOVEL AND DE NOVO ZIC2 PATHOGENIC VARIANT
Nonkulovski D1, Sofijanova A1, Spasovska T1, Gorjan Milanovski2, Muaremoska-Kanzoska Lj1, Arsov T2,3
*Corresponding Author: Prof Todor Arsov MD MGC PhD, Faculty of Medical Sciences, University
Goce Delcev in Shtip, North Macedonia, E-mail: todor.arsov@ugd.edu.mk
page: 71
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Abstract
Holoprosencephaly (HPE) is the most common embryonic
forebrain developmental anomaly. It involves incomplete
or absent division of the prosencephalon into two
distinct cerebral hemispheres during the early stages of
organogenesis. HPE is etiologically heterogeneous, and its
clinical presentation is very variable. We report a case of a
7 month old female infant, diagnosed with non-syndromic
semilobar holoprosencephaly, caused by a novel, de novo
pathogenic variant in ZIC2 - one of the most commonly
mutated genes in non-syndromic HPE coding for the ZIC2
transcription factor. The patient presented with microcephaly,
mild facial dysmorphic features, central hypotonia and
spasticity on all four extremities. Ultrasound imaging demonstrated
the absence of septum pellucidum, semilobar fusion
of the hemispheres and mega cisterna magna and brain
MRI with confirmed the diagnosis of HPE. Early diagnosis
and management are important for the prevention and tr
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