lobar vs semilobar holoprosencephaly radiology
The focus of this article will be on the spectrum of findings visible in fetal manifestation of the HPE spectrum. Epub 2020 Jan 23. A stillborn female was delivered at 25 weeks (weight, 460 g; length, 28 cm; head circumference, 18 cm). (b) DeMyer spectrum of HPE. 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). The DeMyer classification describes a spectrum of abnormality ranging from alobar to semilobar to lobar types. USA.gov. Presented as an education exhibit ... subdivisions (alobar, semilobar, and lobar), more recent devel-opments include the less severe septo … 40, No. Surviving children should be evaluated by a pediatric neurologist, endocrinologist, and clinical geneticist and undergo high-quality imaging at a dedicated referral center to most accurately define the brain abnormality. (b) Coronal T2-weighted half-Fourier RARE MR image shows the continuous anterior brain parenchyma (arrow), monoventricle (*), and partially fused thalami (T). (b) Axial fetal MR image shows apparent complete division of the cerebral hemispheres (arrowheads). Cerebrospinal fluid shunts are placed in approximately 17% of survivors (15). 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). None of 15 surviving patients with MIH had midline craniofacial anomalies (18). In semilobar HPE, the interhemispheric fissure and falx cerebri may be present posteriorly (9) (Figs 14–17), and part of the corpus callosum may be seen in the region of the posteriorly separated hemispheres (4), with the anterior extent corresponding to that of the interhemispheric fissure (19). Normal cerebella (arrowheads) and brainstem structures (white arrow) are present. A somewhat arbitrary criterion used in postnatal imaging is that the malformation is semilobar if the frontal lobes are more than 50% fused (16). In 2010, Marcorelles and Laquerriere (4) stated that HPE “represents a continuum of forebrain malformations with no clear-cut distinction among the different subcategories” (Fig 2). (Fig 22b reprinted, with permission, from Amirsys.). Figure 12a Alobar HPE. The single primitive ventricle and fused thalami are perhaps the two most valuable US clues for alobar HPE. Holoprosencephalic patients usually have various form of developmental delay depending upon severity and types. In the semilobar form, the posterior portions of the brain including the interhemispheric fissure and the falx cerebri are partially formed whereas the anterior brain is fused. (c) Coronal fetal MR image shows anterior inferior gyral continuity between the frontal lobes (arrow). Hydrocephalus is common, particularly when a dorsal cyst is present. Holoprosencephaly: Prenatal Sonographic Diagnosis 871 Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. With the advent of three-dimensional US, additional techniques such as inversion rendering of three-dimensional volumes can be used to assess the ventricular system directly. ■ Describe possible causative factors in order to understand recurrence risk in future pregnancies. Bekdache GN, Begam M, Al Safi W, Mirghani H. Am J Perinatol. The wide spectrum of ultrasound diagnosis of holoprosencephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae. Nonchromosomal, nonsyndromic HPE is considered autosomal dominant, with incomplete penetrance and markedly variable expressivity (21). The anterior cerebral artery is pushed externally alongside the frontal bone by the abnormal bridge of cortical tissue between the two frontal gyri. Oct 16, 2017 - Image result for semilobar holoprosencephaly ultrasound. 6, No. Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. The telencephalon gives rise to the cerebral hemispheres, putamen, and caudate nucleus; the diencephalon forms the thalamus, hypothalamus, globus pallidus, and optic vesicles (14). (a) Three-dimensional US image shows a proboscis (black arrow) arising between hypoteloric orbits (white arrow). Oct 16, 2017 - Image result for semilobar holoprosencephaly ultrasound. The most severe end of the HPE spectrum begins at aprosencephaly (AP), the continuum between anencephaly and more classic HPE (4). … 281, No. 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. It results in a monoventricular cavity; fusion of the thalami; absence of the corpus callosum; falx cerebri; optic tracts and olfactory bulbs. More familiar to those educated in the Western classical tradition is Homer’s account of Odysseus outsmarting the cyclopic giant Polyphemus (3). Coronal three-dimensional US image shows a bilateral lateral cleft lip (arrows) and microphthalmia and mild hypotelorism (arrowheads). In a US study of 57,119 fetuses between 11 weeks 0 days to 13 weeks 6 days gestation, a holoprosencephaly prevalence of one in 1298 was determined (28). Aprosencephaly and atelencephaly occur ear-lier because of failure in the formation of the prosencephalon and telencephalon, respectively. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Figure 15b Semilobar HPE. The middle interhemispheric variant (MIH), also known as syntelencephaly, is classified as a variant of HPE holoprosencephaly with midline interhemispheric fusion. (a) Axial US image shows a continuous midline echo anteriorly (arrow). Figure 7a Alobar HPE. Other classification systems exist, such as the more complex schema by Probst ( 8 ), in which the presence or absence of a dorsal sac and cleavage of basal structures are used to categorize … Orioli and Castilla (27) reviewed 21 epidemiologic studies in which prevalence rates depended on whether the data included live births, stillbirths, or terminations. 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. In the semilobar form, the posterior portions of the brain including the interhemispheric fissure and the falx cerebri are partially formed whereas the anterior brain is fused. Figure 5 Coronal endovaginal US image shows SOD in a fetus. (a) Transverse ultrasonographic (US) image shows a featureless appearance with no identifiable brain architecture at 21 weeks gestational age. Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report. These low prenatal detection rates likely reflect the fact that long-term survivors have the less severe forms of the HPE spectrum. The current common categorization of HPE adds another entity to the classic three: middle interhemispheric variant (MIH) (16). The HPE spectrum classically includes alobar, semilobar, and lobar forms, although there are no clear-cut defining features. (b) Autopsy specimen confirms the diagnosis of atelencephaly, with formation of the diencephalon (black arrow) only and absence of telencephalic structures. 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 cavum septi pellucidi: why is it important? Figure 25a Median cleft lip. Case contributed by Dr Ruslan Asadov. Figure 21a MIH. The corpus callosum may be normal or incomplete, but the cavum septum pellucidum is always absent (4). | e alobar holopros- encephaly is the most severe form and shows undi erenti- ated holosphere of the cerebral parenchyma with a central Diabetes insipidus has not been seen in children with MIH (18). A medical interruption of pregnancy is accepted in most cases of holoprosencephaly. 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). Figure 9 Alobar HPE. 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. Structural abnormalities of the brain are an important cause of childhood mortality and morbidity, with the latter having long-term financial and psychosocial implications for the affected child and family. Note the normal fetal profile in this case. 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 … In the study by Stashinko et al (39) of 104 living children with HPE, only 22% were diagnosed prenatally. 3, American Journal of Obstetrics and Gynecology, Vol. For this journal-based SA-CME activity, the authors, editor, and reviewers have disclosed no relevant relationships. The HPE holoprosencephaly spectrum classically includes alobar, semilobar, and lobar forms, although there are no clear-cut defining features. Syntelencephaly is somewhere toward the middle of this spectrum (18), closer to lobar than alobar HPE. A dorsal cyst is almost always present in alobar HPE, and much less frequently in semilobar HPE and lobar HPE (92%, 28%, and 9%, respectively) (16). Between hypoteloric orbits ( white arrow ) arising between narrowly set eyes of high lethality... 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