Academic literature on the topic 'Holoprosencephaly(HPE)'

Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. It occurs between the 18th and the 28th day of gestation and affects both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Alobar HPE, the most common and most severe type of HPE, can be diagnosed in the first trimester of pregnancy using ultrasound. Among survivors, the long-term outcome is poor and depends on the type and severity of the pathology as well as associated anomalies. Keywords : Holoprosencephaly, Alobar, Malformation.

Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation. The closely related development of the mid-face area is frequently disturbed, with coexisting facial phenotypes ranging from cyclopia to normal.

<strong>Abstract</strong> 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.

Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female, detected on level II obstetric ultrasound at 17 weeks of gestation. The objective of this case report is to discuss the etiology, pathogenesis, prenatal sonographic findings, management and prognosis of HPE which can aid in its early antenatal diagnosis and can help formulate an adequate plan for the parents and fetus.