For a general discussion of epidemiology, clinical presentation, and pathology, please refer to the main article on holoprosencephaly. Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. 16, No. 5, The Journal of Pediatrics, Vol. Semilobar holoprosencephaly is a subtype of holoprosencephaly characterized by incomplete forebrain division. 6, European Journal of Paediatric Neurology, Vol. Informa HealthCare. 6-10 Anterior and posterior to this connection, the cerebral hemispheres are separated. We present the ultrasound detection of alobar holoprosencephaly (HPE) with cyclopia in an embryo of 9 weeks 2 days last menstrual period (LMP)‐based gestational age; the crown–rump length (CRL) was 22 mm. Holoprosencephaly (HPE) is a severe brain malformation characterized by abnormal cleavage of the prosencephalon in the 5th gestational week. Filly RA, Chinn DH, Callen PW. 5, 22 January 2008 | Congenital Anomalies, Vol. 15, No. 1063. The British Journal of Radiology, Vol. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Holoprosencephaly radiology discussion including radiology cases. Alobar holoprosencephaly can be di erentiated from hydrocephalus by the presence of midline echogenic falx, absent septum pellucidum, separated thalami, and distinct lateral ventricles in the latter [ ]. Middle interhemispheric variant (MIH) or syntelencephaly is also considered as a milder variant of HPE . 2, 1 January 2002 | Prenatal Diagnosis, Vol. 1984 May;151(2):455-9. Case contributed by Dr Ammar Haouimi Diagnosis almost certain Diagnosis almost certain . This child has features are consistent with lobar holoprosencephaly, including a poorly formed corpus callosum and azygous anterior cerebral artery. 2, No. There are 4 types of holoprosencephaly, distinguished by severity. As with most cerebral structural congenital abnormalities, alobar holoprosencephaly is visible on all modalities, but in general is identified on antenatal ultrasound (if performed), and best characterized by MRI. As with most cerebral structural congenital abnormalities, alobar holoprosencephaly is visible on all modalities, but in general is identified on antenatal ultrasound (if performed), and best characterized by MRI. In these cases, contrast studies should prove diagnostic of the alobar holoprosencephaly. 1984;151 (2): 455-9. Hydranencephaly may also demonstrate absence or deviated falx but the thalami are not fused in this condition [ ]. 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. 4, Ultrasound in Medicine & Biology, Vol. 6 19 Alobar HP, facial cleft Alobar HP, ceboceph- Trisomy 13 Termination of preg-aly, facial cleft, dys- nancy plastic kidneys 7 24 Alobar HP, dorsal cyst, Facial cleft, meningo- Not studied Delivered at 37 weeks; facial cleft myelocele died within 20 min (no autopsy) 8 23 Alobar HP Alobar HP, normal face Normal Termination of preg- The facial abnormalities accompanying holoprosencephaly range from subtle to grotesque (Figure 14-1).In general, the more severe facial malformations are associated with alobar holoprosencephaly, but exceptions do occur ().The most severe facial malformation is cyclopia, a single or fused double eye and absent nasal structures (Figures 14-1A and 14-1B). 14 (5): 1151-6. with normal to simplified cortical pattern, microcephaly with extensive polymicrogyria, malformations secondary to inborn errors of metabolism, mitochondrial and pyruvate metabolic disorders, cerebellar hypoplasias, not otherwise specified, focal cerebellar cortical dysplasias/heterotopia, lissencephaly with agenesis of corpus callosum and cerebellar dysplasia, associated with diffuse cerebral polymicrogyria. 46, No. The ... Hospital de Santa Maria Radiology Residents, Lisbon, Portugal. AJNR Am J Neuroradiol. 2 . If the address matches an existing account you will receive an email with instructions to reset your password. Abstract Holoprosencephaly (HPE) is a heterogeneous central nervous system (CNS) anomaly that results from a primary defect in induction and patterning of the rostral neural tube (basal forebrain), leading to varying degrees of incomplete separation of the cerebral hemispheres and facial anomalies. In the semilobar type, similar changes are present, however, the cerebral hemispheres are relatively more developed. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. (a) Ventriculomegaly with absence of medial structures (alobar holoprosencephaly, Case 1); (b) bilateral ventriculomegaly and … 6, Neuroimaging Clinics of North America, Vol. Radiology. Presentation. 1, 27 August 2016 | Rivista di Neuroradiologia, Vol. 05, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. Castillo M, Bouldin TW, Scatliff JH et-al. alobar holoprosencephaly Alobar holo prosencep haly is the mos t severe form in the classic sp ec- trum of holopros encephaly an d only some affec ted pregnanc ies can 14, No. Semilobar holoprosencephaly, in which the brain's hemispheres have somewhat divided, is an intermediate form of the disease. Radiology. The early embryonic occurrence may be even higher but may not be detected due to most fetuses aborting in early gestation. 03, No. 4, 12 December 2002 | Ultrasound in Obstetrics and Gynecology, Vol. 4, 16 November 2016 | Journal of Diagnostic Medical Sonography, Vol. Radiologic-pathologic correlation. 3, 1 July 2016 | Journal of Diagnostic Medical Sonography, Vol. 25, No. 1, 16 December 2002 | Ultrasound in Obstetrics and Gynecology, Vol. 8, American Journal of Medical Genetics, Vol. Case 3: prenatal ultrasound 1st trimester, Hydrocephalus from post-fossa arachnoid cyst, agenesis or hypoplasia of the corpus callosum, lissencephaly type I: subcortical band heterotopia spectrum, mild malformations of cortical development, single midline monoventricle (or holosphere), middle and anterior cerebral arteries may be replaced by tangled branches of internal carotid and basilar vessels, pancake: cerebral tissue is confined to the anterior basicranium, cup: cerebral tissue lines variable amounts of the anterior cranium with a dorsal cyst present posteriorly, ball: a complete rim of tissue surrounds the monoventricle without dorsal cyst, thalami are often visible and are not fused, not associated with midline facial abnormalities, no cortex present, or sometimes small islands of tissue, falx cerebri usually present, but may be absent due to severe long-standing hydrocephalus. Classically, holoprosencephaly has three forms, alobar, semilobar, and lobar. Unable to process the form. Holoprosencephaly may be associated with cyclops with ethmocephaly, dorsal brain cyst or olfactory nerve hypoplasia. 15, No. University of Pennsylvania Radiology Residents, Philadelphia, Pa. The condition can also affect development of the head and face. Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies. Alobar holoprosencephaly is a subtype of holoprosencephaly and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. Presentation. 34, No. Check for errors and try again. 6, © 2021 Radiological Society of North America, https://doi.org/10.1148/radiology.151.2.6709918, Prenatal Diagnosis of Fetal Malformations by Ultrasound, Cyclopia: A Rare Condition with Unusual Presentation - A Case Report, Antenatal Diagnosis of Alobar Holoprosencephaly, Antenatal Sonographic Diagnosis of A Case of Alobar Holoprosencephaly: A Case Report, Ultrasound and magnetic resonance in prenatal diagnosis of congenital anomalies, Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation, Lobar Holoprosencephaly with a Median Cleft: Case Report, Sex-related differences in the anteroposterior diameter of the foetal cisterna magna, First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus, Discordant Semilobar Holoprosencephaly in Monozygotic Twins with de novo inv dup(15) Marker Chromosome and de novo Mutation on SHH Gene, Prenatal Sonographic Features of Trisomy 13, Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography, Evaluation and management of children with holoprosencephaly, Fetal imaging of central nervous system abnormalities, Sonography of fetal cerebrospinal anomalies, Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases, Transabdominal sonography of the cavum septum pellucidum in normal fetuses in the second and third trimesters of pregnancy, Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound, Holoprosencephaly: recent advances and new insights, Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound, Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy, Practical approach to evaluating the fetal neural axis, Prenatal sonographic diagnosis of nasal malformations, Early transvaginal sonographic diagnosis of alobar holoprosencephaly, Holoprosencephaly: Prenatal diagnosis by sonography and magnetic resonance imaging, Semilobar holoprosencephaly with associated Arnold-Chiari variant, Congenital cerebrospinal fluid-containing intracranial abnormalities: A sonographic classification, Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature, Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies, Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly, Complexities of intraventricular abnormalities, Antenatal recognition of cerebral anomalies, Ultrasonic Evaluation of the Holoprosencephalic Infant. 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