From the Abdominal Imaging Section, Department of Diagnostic Radiology, University of Utah Medical Center, 30 N 1900 E, Room 1A071, University Hospital, Salt Lake City, UT 84132-2140. Win an All-Access Pass! They described a graded series of median facial malformations, from cyclopia to ethmocephaly to cebocephaly to median cleft lip to the median philtrum-premaxilla anlage (Table), that were highly correlated with the type of underlying brain malformation. In the minimal form, the “fusion” is limited to the preoptic or septal/subcallosal region (16), and in the microform type, neuroimaging results are completely normal (9,21,22). (a) Coronal US image shows a monoventricle (*) and partial fusion of the thalami (T). This aneuploidy rate is much lower than those in other reports in the literature (38%–55% of cases), likely reflecting selection bias in that the other studies included intrauterine fetal deaths and pregnancy terminations (39). In SOD, there is hypoplasia of the optic nerves and chiasm; absence of the cavum septum pellucidum is seen, but the cerebral hemispheres are completely separated (Figs 5,6). The choroid plexus is narrow in the middle but thicker at both ends, and when seen side by side the choroids create a butterfly appearance. Findings. 34, No. Causes of Holoprosencephaly. No other abnormality was seen. 9-10, © 2021 Radiological Society of North America, The molecular genetics of holoprosencephaly, Holoprosencephaly: a mythologic and teratologic distillate, Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations, Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: report of patient with 46 chromosomes, The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly), Prosencephalies: morphology, neuroradiological appearance and differential diagnosis, Embryology of the brain and molecular genetics of central nervous system malformation, Sonoembryology and early prenatal diagnosis of neural anomalies, MR imaging of the developing human brain. MR imaging has multiple advantages in fetal neuroimaging: high soft-tissue contrast, visualization of both sides of the brain (no US reverberation artifact), and large field of view. Holoprosencephaly (HPE) sequence is caused by failure of complete forebrain differentiation into two distinct cerebral hemispheres during gastrulation. Hahn and Barnes (16) reported that 20%–33% of imaging studies failed to meet diagnostic criteria for HPE; these cases ultimately were diagnosed as SOD, schizencephaly, and agenesis of the corpus callosum with or without an interhemispheric cyst. Nineteen percent of children referred to the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations (a center of excellence in HPE) did not have HPE at image review (39); another study found that nearly half of all patients referred with HPE had not received an accurate diagnosis on the basis of neuroimaging studies (18). We were not able to demonstrate the cavum septum pellucidum in any plane. When thalamic fusion is present, there may be a dorsal cyst in semilobar HPE and, if large, the cysts may cause macrocephaly. 12, Taiwanese Journal of Obstetrics and Gynecology, Vol. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. 11 years later, the patient has persistent psychomotor impairment (nonverbal, wheelchair-bound, only follows basic commands) and epilepsy. For this journal-based SA-CME activity, the authors, editor, and reviewers have disclosed no relevant relationships. Viewer, Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation, A case of holoprosencephaly and a little review, Abnormalities Associated With the Cavum Septi Pellucidi on Fetal MRI: What Radiologists Need to Know, Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine, Entwicklungsstörungen des zentralen Nervensystems, Post-mortem magnetic resonance (PMMR) imaging of the brain in fetuses and children with histopathological correlation, Agenesis of the Anterior Falx Cerebri in a Patient with Planned Interhemispheric Approach to a Third Ventricle Mass, Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus, Counseling for Fetal Central Nervous System Defects, Alobar Holoprosencephaly With Cebocephaly, Case 236: Middle Interhemispheric Variant of Holoprosencephaly, The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings, Congenital malformations of the brain and spine, Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study, Where are the Lateral Ventricles: How to Diagnose and Distinguish Aventriculi from the Other Holoprosencephaly Variants, Fetal Neuroanatomy on Ultrasound and MRI: Imaging Correlation with Pathology, The Spectrum of Holoprosencephaly and Common Mimics as Evaluated by Prenatal US, Fetal MRI, and Post-natal Imaging, Fetal MR Imaging of CNS Anomalies Associated with Absence of the Cavum Septi Pellucidi, MR Imaging of the Fetal Face: Comprehensive Review. The spectrum of malformations caused by disordered prosencephalic ventral induction starts at aprosencephaly (ie, absence of the prosencephalon) (Fig 3) (4,9,17). Axial (a, b) and coronal (c) T2-weighted MR images in a neonate diagnosed prenatally with MIH show a lack of separation in the posterior frontal lobes (black arrowhead). Figure 11 Alobar HPE. Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username. ... Ng KK, Chang YL, Chao AS, Wai YY. Figure 19a Lobar HPE. HHS Reportedly, cases of alobar holoprosencephaly have been detected as early as 9-14 weeks' gestation (and often detected at 18-20 weeks on routine anatomic scans), semilobar holoprosencephaly has been detected by 13-20 weeks' gestation, and lobar holoprosencephaly has been detected by 21 weeks' gestation with the use of transvaginal ultrasonography. Babylonian tablets describe a one-eyed monster that would bring calamity to the country (2). Also, note the vertically oriented sylvian fissures (arrows), which abnormally connect across the vertex. 5, Egyptian Journal of Radiology and Nuclear Medicine, Vol. Although the prenatal diagnosis of alobar HPE is fairly straightforward, recognition of the semilobar and lobar forms can present a challenge. In the early 1960s, DeMyer and colleagues (5–7) termed the malformation holoprosencephaly and provided the most commonly used classification system of alobar, semilobar, and lobar forms. Postnatal imaging also shows varying degrees of separation of the deep nuclei, but the thalami and hypothalamus may remain unseparated (ie, “fused”). Of those with lobar HPE, about 50% are able to walk (some require assistance), have normal to mildly impaired hand function, and can speak single words (some speak in multiword sentences) (15). The deflated dorsal cyst is reflected onto one-half of the bivalved skull vault. Figure 18b Lobar HPE. Find out more. It is thought that the flow of cerebrospinal fluid out of the third ventricle is obstructed by fusion of the thalami, and, as a result, the third ventricle balloons out posteriorly at the point of least resistance in the suprapineal recess (16).The dorsal cyst of HPE has been confused with an interhemispheric cyst associated with agenesis of the corpus callosum, but the distinction may be made by the presence of normal cleavage of the cerebral hemispheres in the case of agenesis (16). Radiology, prospectively analysis or semilobar abnormalities, 154:143-148, of midline and the outcome January of Radiology, University of WashCenter, Seattle, WA 981 95. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Communication between the frontal horns with an absent cavum septum pellucidum (arrow) is seen. Another author notes that prenatal US can depict the facial and central nervous system abnormalities of severe HPE as early as the first trimester but is much less sensitive for entities toward the less severe end of the spectrum (22). Arrow = proboscis. Only a single orbit was seen (not shown). With semilobar HPE, there is partial separation of the hemispheres posteriorly, and with lobar HPE there are almost fully developed cerebral hemispheres, but with some continuityacross the frontal cortex. Middle interhemispheric variant (MIH) or syntelencephaly is also … Atelencephaly (AT) is a subset of aprosencephaly: In this instance, a rudimentary diencephalon is present, while the telencephalon is absent. HPE is graded as alobar, semilobar, and lobar, and a mild version called… ■ Describe possible causative factors in order to understand recurrence risk in future pregnancies. Figure 26 Bilateral lateral cleft lip in a fetus with alobar HPE. The group at the Harris Birthright Centre (London, England) have shown that in fetuses with HPE, abnormal forebrain development results in early closure of the metopic suture; the height of the frontal bones at the suture was higher, and the gap between the bones was smaller than in comparisons with normal development (54). The etiology of HPE is multifactorial: Chromosomal and genetic abnormalities, teratogen exposure, and/or syndromic association have all been described. Aprosencephaly and atelencephaly occur ear-lier because of failure in the formation of the prosencephalon and telencephalon, respectively. Holoprosencephaly is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. There are myriad other associations, including unusual combinations such as HPE with thanatophoric dysplasia (30) and HPE with ectrodactyly (Hartsfield syndrome) (31,32). 57, No. (a) Axial US image shows a continuous midline echo anteriorly (arrow). The middle interhemispheric variant (MIH), also known as syntelencephaly, is classified as a variant of HPE holoprosencephaly with midline interhemispheric fusion. This is described as the “ball-shaped” brain. This has been described as the “snake under the skull: appearance on sagittal views of the brain when asses with color or power Doppler. Therefore, this work has implications for the evaluation, diagnosis, management, and genetic counseling that families can receive during a pregnancy. Figure 16 Semilobar HPE. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. The parents elected to continue with the pregnancy, and declined any further investigation including ultrasound follow‐up or amniocentesis. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. (b) Postnatal coronal US image shows fusion of the anterior frontal lobes (*) with interdigitation of sulci across the midline (arrows). Figure 12a Alobar HPE. Also note the abnormal appearance of the vertically oriented sylvian fissures (arrows in a and b), which extend more toward the midline than expected, and the cortical dysplasia (white arrowhead in c) and gray matter heterotopia (arrow in c). (b) Sagittal T2-weighted half-Fourier RARE MR image shows a flattened midface (arrow) and the “ball” configuration of the remaining cortex (arrowheads) surrounding the monoventricle (*). With semilobar HPE, there is partial separation of the hemispheres posteriorly, and with lobar HPE there are almost fully developed cerebral hemispheres, but with some continuityacross the frontal cortex. Increases in the reported birth prevalence rate may be because of improvements in prenatal diagnosis. (a) Coronal US image shows a monoventricle (*) and partial fusion of the thalami (T). 3, The British Journal of Radiology, Vol. In lobar holoprosencephaly [Figure - 10], there is no evidence of a mono-ventricular cavity and fusion of thalami; considerable evidence of separated brain hemispheres is present. (b) Axial oblique US scan obtained at a higher level shows the cuplike morphology of the noncleaved hemispheres (arrows) “cupping” the monoventricle (*). Although morphologically not between semilobar and lobar (see text for differences), most authors place it in this region in terms of severity, with MIH perhaps most similar to the lobar subtype according to functional measures (15,18). Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. This is also referred to as premaxillary agenesis. 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. 6, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. Although relatively rare, it is the … Semilobar holoprosencephaly, in which the brain's hemispheres have somewhat divided, is an intermediate form of the disease. The next discrete point on the spectrum is atelencephaly, a subset of aprosencephaly: The prosencephalon develops into two structures, the telencephalon and the diencephalon, and atelencephaly represents absence of only the telencephalon (Fig 4). Holoprosencephaly is a complex abnormality of the forebrain resulted from failure in the diverticulation of the prosencephalon. In this article, the authors will review the recent literature and provide the prenatal imager with a framework for the proper diagnosis and assessment of affected pregnancies. rapid acquisition with relaxation enhancement, 24 July 2020 | RadioGraphics, Vol. Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report. Figure 13 Alobar HPE. Endocrine disorders include central diabetes insipidus and, less commonly, anterior pituitary dysfunction (15). Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. In order of increasing severity, the three main subtypes of HPE are lobar, semilobar, and alobar, ... Department of Radiology; Dr. O’Brien, Dr. Guerin, Dr. Kline-Fath, and Dr. Alexander Towbin while at Cincinnati Children’s Hospital and the University of … Normal cerebella (arrowheads) and brainstem structures (white arrow) are present. Conventional transabdominal … Holoprosencephaly is a congenital Induction disorder of the brain occurring at 3-6 weeks' gestation, with failed segmentation of the neural tube. Some authors consider SOD to be toward the less-affected end of the spectrum (ie, less severe than lobar HPE) (9,17,19), whereas others include it in the category of abnormal midline development (which may be more appropriate embryologically). 7, 28 March 2017 | Journal of Fetal Medicine, Vol. 1. Oct 16, 2017 - Image result for semilobar holoprosencephaly ultrasound .. Fetal karyotyping was performed by amniocentesis, and revealed trisomy 18. The most severe end of the HPE spectrum begins at aprosencephaly (AP), the continuum between anencephaly and more classic HPE (4). Radiology. e thalami and the basal ganglia are separated. Figure 19b Lobar HPE. Orioli and Castilla (27) reviewed 21 epidemiologic studies in which prevalence rates depended on whether the data included live births, stillbirths, or terminations. Available data on outcome in surviving children are summarized. In fetuses with HPE, look for additional anomalies, consider fetal MR imaging, offer karyotype with microarray analysis, and discuss management options, including pregnancy termination and timing and mode of delivery to avoid the maternal morbidity of extended-incision cesarean section for macrocephaly and comfort care versus aggressive resuscitation. Sagittal fetal MR image shows a large “dorsal cyst” (arrowheads) and “cup” morphology of the brain (arrow). Alobar HPE is an abnormality that may be diagnosed with the aid of US in the developing embryo. Rubinstein D(1), Cajade-Law AG, Youngman V, Hise JM, Baganz M. Author information: (1)Department of Radiology, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Campus Box A-034, Denver, CO 80262, USA. Figure 15b Semilobar HPE. HPE has been divided into three subcategories based on the structural malformation: alobar, semilobar, and lobar HPE. Under the signaling influence of the prechordal plate, the eye field in vertebrates splits into separate left and right eyes. The parents opted for pregnancy termination. Weeks estimated gestational age of cortical tissue between the orbits, as in ethmocephaly with only facial. 42 weeks after Induction of labor for prolonged gestation were diagnosed prenatally during forebrain development is the most visual... Is identified on antenatal ultrasound and magnetic resonance imaging in the hypothalamic-pituitary axis ( 16,20.... More posteriorly shows two occipital lobes separated by the abnormal bridge of cortical tissue between the frontal lobes are.! 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