Holoprosencephaly – Case Reports of A Rare Neurological Malformation
Year: 2024
Type: article
Abstract: Holoprosencephaly (HPE) is a complex structural anomaly of the developing forebrain caused by incomplete division of prosencephalon into two separate hemispheres and ventricles resulting in dysmorphism of brain and face and neurological impairment. HPE has incidence rate of 1:250 in utero and the live birth rate is 1:16,000. It is classified into three types based on the degree of cerebral involvement; lobar, semi-lobar and alobar. There are various etiological factors involved in causation of Holoprosencephaly including environmental, chromosomal and genetic syndromes. Ultrasound (US) is the primary mode of investigation for examination of the foetal brain. Magnetic resonance imaging (MRI) plays an important role in further diagnosis and characterization of the variant of HPE and helps in determining the degree of neurological involvement. There are no treatment options available for HPE and the surviving children with HPE have developmental disabilities correlating with the degree of cerebral involvement. Recent advances in diagnostic methods and improved patient management have increased the survival rate in patients with HPE.
Author: International Journal of Medical Science and Innovative Research (IJMSIR)
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6912085564
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