Case Of Alobar Holoprosencephaly Research Articles

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE). Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE. The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases. Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.

Two Cases of Holoprosencephalies

Two pregnant women with around 33-34 weeks of gestation were reported to Gynaecology and Obstetrics OPD of North Bengal Medical College Hospital, Bangladesh for last trimester antenatal checkup. They were primigravida with around 23-25 years of ages without previous antenatal check up. Both of them had normal course of pregnancy. Ultrasounds of pregnancy profile were done. It was observed in first case that septum pellucidum was absent in brain with partially formed falx cerebri, interhemispheric fissure. Occipital horn was rudimentary and thalami and basal ganglia were partially separated. This case was diagnosed as a case of semi lobar holoprocencephaly. In another case, septum pellucidum, falx cerebri and interhemispheric fissure were absent. Ventricle was monoventricular in appearance and thalami were fused. This case was diagnosed as a case of alobar holoprosencephaly. The importances of these classical cases of alobar and semi lobar holoprosencephalies are to make aware the radiologists to the imaging manifestations of holoprosencephalies and come to early diagnosis. If these cases are being diagnosed at an early stage of pregnancy, medical termination of pregnancy can be performed and maternal psychological trauma of bearing a deformed fetus can be avoided.KYAMC Journal Vol. 8, No.-1, Jul 2017, Page 64-68

L’holoprosencéphalie : étiopathogénies et caractéristiques phénotypiques. À propos de quatre observations

Holoprosencephaly is a rare brain abnormality resulting from an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. It includes a series of rare complex and heterogenosis disorders. Alobar form is associated with an extremely poor fetal prognosis. Here we report three cases of alobar holoprosencephaly and one case of semilobar holoprosencephaly diagnosed at the third trimester. Causes, diagnosis and management of holoprosencephaly are discussed referring to literature.

A Case of Holoprosencephaly and 13q Deletion

Holoprosencephaly is a cerebral anomaly associated with a 13q deletion. We present a case of alobar holoprosencephaly which was diagnosed at 20 weeks gestation and where the fetal karyotype showed a 13q deletion.

Prenatal Diagnosis of Alobar Holoprosencephaly Facilitated by the Combined Use of Ultrasound and Magnetic Resonance Imaging

Objective: Alobar holoprosencephaly is the most severe form of holoprosencephaly. The poor prognosis of fetuses with alobar holoprosencephaly makes early diagnosis in utero important. Herein we report on a case of alobar holoprosencephaly diagnosed in the second trimester using both ultrasound (US) and magnetic resonance imaging (MRI). Case Report(s): A pregnant 25-year-old woman underwent an abdominal US examination at 19 weeks 3 days. A detailed US examination using a 3.5-MHz transabdominal probe demonstrated a fused single ventricle, a fused thalami, a cleft lip and palate, and the absence of falx cerebri in her fetus. T2-weighted MRI further revealed the fetal body with all brain cavities outlined by segmentation. After amniocentesis and prenatal counseling, the couple chose to terminate the pregnancy. The fetus was aborted using vaginal prostaglandin. Fetal karyotype showed 46, XY. Histological examination revealed alobar holoprosencephaly with cleft lip and palate. Conclusion(s): MRI does not alter the diagnosis of alobar holoprosencephaly made solely by obstetric US, but it may provide improved visualization of fetal alobar holoprosencephaly.

Holoprosencephaly: prenatal sonographic diagnosis

Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Intracranial and extracranial findings were reviewed to determine the accuracy and spectrum of the sonographic features. All 14 cases were reliably distinguished from other causes of fetal hydrocephalus (n = 58) detected during the same period by demonstrating absence of the midline echo (falx cerebri and interhemispheric fissure), fusion of the thalami, and abnormal ventricular configuration. Four cases of semilobar HP demonstrated incomplete fusion of the thalami and partial separation of the ventricles compared with alobar HP. Eight cases demonstrated a dorsal cyst including five with alobar HP and three with semilobar HP. One case demonstrated an unusual extraaxial fluid collection surrounding the brain, thought to be from rupture of a dorsal cyst. Facial features that were identified included a proboscis (three cases), midline facial cleft (three cases), and hypotelorism (five cases). Extracranial abnormalities that were identified included polydactyly (two cases), renal dysplasia (two cases), omphalocele (one case), and fetal hydrops (one case). We conclude that fetuses with HP can exhibit a spectrum of sonographic findings and that alobar or semilobar HP is reliably distinguished from other causes of fetal hydrocephalus by distinctive intracranial findings.

A case of holoprosencephaly: With possible association of Dandy-Walker cyst

The authors described a case of alobar holoprosencephaly with a huge cyst in the posterior fossa, possible representing a Dandy-Walker cyst, and marked cerebellar agenesis in the absence of median facial dysmorphias that has recently been encountered at our clinic.

Angiographic features of alobar holoprosencephaly.

The purpose of this report is to present two cases of alobar holoprosencephaly and to review reports from the literature dealing especially with angiographic features of this malformation. — From the features of main cerebral arteries in the present cases, alobar holoprosencephaly may be divided into two types: the azygos artery type which has an unpaired anterior cerebral artery with bilateral middle cerebral arteries, and the undifferentiated artery type with a single undulated main trunk supplying the whole cerebrum. These two types represent the different stages of the malformation in embryonal life.