ULTRASOUND: Interhemispheric fissure absent. 6, European Journal of Paediatric Neurology, Vol. Holoprosencephaly is a rare intracranial abnormality arising from failure of the prosencephalon to cleave during early embryonic life, which results in different degrees of lateral ventricular fusion and facial defects. This was done to confirm 22 22 the diagnosis by ultrasound, by karyotyping and by post‐abortem autopsy. For a general discussion of epidemiology, clinical presentation, and pathology, please refer to the main article on holoprosencephaly. For more details see the article on alobar holoprosencephaly. 1, 1 September 2009 | The Cleft Palate-Craniofacial Journal, Vol. 6, Current Opinion in Neurology, Vol. Holoprosencephaly can sometimes be detected prenatally through ultrasound or MRI, though mild forms may not be reliably detected prenatally. Suseela Vavilala, MD, Sarada, MD, Bindu, MD . The main differential considerations for very large ventricles (> 20 mm) on prenatal ultrasound are hydranencephaly, alobar holoprosencephaly, and massive (maximal) hydrocephalus. 4, American Journal of Obstetrics and Gynecology, Vol. The less severe forms of holoprosencephaly, namely semi‐lobar and lobar, arise from incomplete division of the telencephalon. HPE is a rare structural abnormality of the brain and is associated with neurologic impairment and facial dysmorphism. 17, No. Holoprosencephaly is a rare intracranial abnormality arising from failure of the prosencephalon to cleave during early embryonic life, which results in different degrees of lateral ventricular fusion and facial defects. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature. Ultrasound Obstet Gynecol 19:24–38, 2002.) 1 This condition is classified according to brain structures into lobar, semilobar, and alobar, the latter being the most severe form. In addition, absence of midline echo and third ventricle was noted. cerebral cortex displaced, Pancake configuration We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis. The microcephaly was confirmed associated with hypertelorism and a frontal encephalocele. Children with a semi-lobar or lobar subtype can survive for approximately two years after the diagnosis of holoprosencephaly. 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. 6, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. Case Discussion Typical findings of holoprosencephaly in its alobar form as it's supposed to be imaged in the first trimester. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984. Patient concern: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. In mild cases, the condition may not be diagnosed until after birth. 2 Alobar holoprosencephaly information for health professionals HP_AH_V1 June 2009 Aim The aim of this information sheet is to support staff involved in counselling pregnant women and their partners when a suspected or confirmed diagnosis of alobar holoprosencephaly (HPE) has been made, following an ultrasound scan. Children with a semi-lobar or lobar subtype can survive for approximately two years after the diagnosis of holoprosencephaly. Definition: Alobar holoprosencephaly is the most severe form of cleavage failure of the forebrain (prosencephalon) before 6 weeks of gestation. Objective: To investigate the prenatal appearance of the holoprosencephaly spectrum. The alobar form of holoprosencephaly, which is the most severe form, has the worst prognosis and most children do not survive beyond six months. Falx cerebri absent. Specific sonographic findings included a large central cranial fluid collection (a monoventricular cavity lacking ventricular horns and midline structures), a fused thalamus at the floor of this cavity, and characteristic facial features (proboscis, single orbit, single nostril, or severe hypotelorism). Holoprosencephaly has been divided into four types depending on the severity of the condition. 48, No. 2, 1 January 2002 | Prenatal Diagnosis, Vol. 5, Journal of Medical Ultrasound, Vol. These are some pictures of 22-year-old primigravida, from non-consanguineous marriage, referred to our hospital at 6th months of pregnancy due to ventriculomegaly. more cortex present, Ball configuration = Current Opinion in Obstetrics and Gynecology, Vol. Alobar holoprosencephaly. 2, 9 February 2015 | Clinical Medicine Insights: Pediatrics, Vol. 22, No. Alobar holoprosencephaly. (1990) described a child with a normal face, but with alobar holoprosencephaly established by prenatal ultrasound examination and magnetic resonance imaging (MRI). Hydranencephaly is thought to arise from bilateral internal carotid … 6, Neuroimaging Clinics of North America, Vol. cerebellum are structurally normal. 15, No. Holoprosencephaly is a structural malformation of the brain that results from complete or incomplete nonseparation of the prosencephalon (forebrain). Semilobar holoprosencephaly Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres.The result is a single-lobed brain structure and severe skull and facial defects. These types are alobar, semi-lobar, lobar, and middle interhemispheric type Holoprosencephaly. 12, No. Children affected in a much milder way can survive up to a year or more. 15, No. ULTRASOUND: Interhemispheric fissure absent. Diagnosis is then confirmed through magnetic resonance imaging (MRI) or a computed tomography (CT) scan. 12, No. Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. It is intermediate in severity, being worse than lobar holoprosencephaly and better than alobar holoprosencephaly. [ 17, 18, 1] A study of 35 fetuses with holoprosencephaly compared the … Achiron et al (1995) described one case at 10 weeks and 4 days as well as Wong (1999), Hong Soo Wong (1999) and Turner (1999). 5, Journal of Clinical Ultrasound, Vol. 8, American Journal of Medical Genetics, Vol. 19, No. For a general discussion of epidemiology, clinical presentation and pathology, please refer to the article on holoprosencephaly (HPE). 156, No. Diagnosis is then confirmed through magnetic resonance imaging (MRI) or a computed tomography (CT) scan. 25, No. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Alobar holoprosencephaly characterised by median malformations of the face and brain due to incomplete cleavage and morphogenesis of the fore brain. Holoprosencephaly can result in the way the face and head of the baby develops at the time of birth. Single primitive ventricle (holoventricle) with a large dorsal cyst. 16, No. Holoprosencephaly has been divided into three subcategories based on the structural malformation: alobar, semilobar, and lobar HPE. Blaas HG(1), Eik-Nes SH, Vainio T, Isaksen CV. 4, Journal of Clinical Ultrasound, Vol. Holoprosencephaly represents a spectrum of brain and facial malformations. approximately 52% of cases (2), "Horseshoe" or Author information: (1)National Center for Fetal Medicine, Trondheim University Hospital, Norwegian University of Science and Technology, Norway. As a result of poor maternal heath and fetal anomaly, the parents elected to terminate the pregnancy, and a 986-g male fetus was delivered with hypotelorism, HPE, cebocephaly, micropenis, and cryptorchidism. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. US image is a section through the ears, maxilla, and ball-like proboscis (A). That term is a fancy way of saying that the brain did not divide into the normal two hemispheres. Extrafacial anomalies have been reported in trigonocephaly, microphthalmia 03, No. Alobar holoprosencephaly accounts for two thirds of affected patients, and is the most serious form, characterized by failure of the brain to separate into two halves. 22, No. This was done to confirm 22 22 the diagnosis by ultrasound, by karyotyping and by post‐abortem autopsy. A normal face is present in 17% of cases. 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. Holoprosencephaly is typically detected during a routine ultrasound exam. divided eyes in a single orbit. With increasing quality of ultrasound equipment detection of holoprosencephaly is now possible at an earlier gestational age. 1, Fetal Diagnosis and Therapy, Vol. 30, No. This is the most severe form in which the prosencephalon Semilobar holoprosencephaly Most commonly associated with facial abnormalities such as cyclopia, ethmocephaly, cebocephaly, and median cleft lip. Half of the cases have genetic origin. 154C, No. Fernandez Hospital PVT.LTD, Health Care for Woman & the Newborn, Hyderabad, A.P., India . Holoprosencephaly (HPE) is a complex brain malformation resulting from the incomplete midline cleavage of the prosencephalon and occurring between the 18th and the 28th day of gestation,[1,2] indicating that HPE is a disorder of gastrulation. 1, Seminars in Roentgenology, Vol. The ultrasound examination performed at 19 weeks, revealed an alobar holoprosencephaly, with centrally fused thalami surrounded by a mono ventricle. (a) Normal … and microcephaly. There are three types: alobar, semilobar and lobar. 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. Embryologically, holoprosencephaly develops as early as … 1 eye or partially Midbrain, brainstem and 1, No. 1, 16 December 2002 | Ultrasound in Obstetrics and Gynecology, Vol. [3–5] Demyer and Zeman suggested this resulted from a defect in the ventral induction and from the patterning of the rostral neural tube by the p… 46, No. Methods: A database of 1750 fetuses with congenital anomalies identified by ultrasound was prospectively collected from 1987 to 2000. Estabrooks et al. 4, 16 November 2016 | Journal of Diagnostic Medical Sonography, Vol. On prenatal ultrasound, an intact falx and a fluid-filled cranium can be seen. The intact falx in hydranencephaly differentiates it from alobar holoprosencephaly. - Alobar holoprosencephaly After birth, the patient was demonstrated to have a minute deletion of chromosome 21q22.3. A 34-year-old woman (gravida 1, para 0), was referred at 18 weeks of gestation with a ultrasound diagnosis of alobar holoprosencephaly. Alobar holoprosencephaly, the most serious form, in which the brain fails to separate, is usually associated with severe facial anomalies, ... Ultrasound scan of a fetal head at 14 weeks of pregnancy with partial absence of the midline Genetics. ALOBAR HOLOPROSENCEPHALY This is the most severe form in which the prosencephalon fails to divide. 4, 12 December 2002 | Ultrasound in Obstetrics and Gynecology, Vol. ALOBAR HOLOPROSENCEPHALY This is the most severe form in which the prosencephalon fails to divide. complete covering of, Thalami are fused in the Holoprosencephaly (HPE) is the commonest congenital brain malformation and indicates absent or incomplete midline cleavage of the brain. 22, No. Differential diagnosis of the fetus with a large intracranial fluid collection is discussed and illustrated. - Semilobar or Lobar holoprosencephaly. All of them confirmed posteriorly by MRI at 20 weeks. Half of the cases have genetic origin. 13, No. At 25-week gestation Alobar Holoprosencephaly was detected by ultrasonography. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. 31, No. The alobar form of holoprosencephaly, which is the most severe form, has the worst prognosis and most children do not survive beyond six months. 34, No. The use of three-dimensional (3-D) ultrasound made additional diagnostic ultrasound tomograms p … The autopsy ( Figure 3d) confirmed the diagnosis of alobar holoprosencephaly associated with cyclopia with two eye‐anlagen, proboscis, and a … Fetal MRI has been used to diagnosis a … Middle interhemispheric variant (MIH) or syntelencephaly is also considered as a milder variant of HPE . Lessons: We described a case of alobar holoprosencephaly diagnosed at 38 weeks of gestation and associated with a rare chromosomal abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. fails to divide. Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. 9, International Journal of Clinical Medicine, Vol. Single primitive ventricle (holoventricle) with a large dorsal cyst. Radiographic features. Banu Dane, Cem Dane, Figen Aksoy, Murat Yayla, Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D–3D ultrasound, Archives of Gynecology and Obstetrics, 10.1007/s00404-009-0975 … Prenatal ultrasound revealed a singleton fetus with fetal biometry equivalent to 24 weeks, alobar HPE, cebocephaly, and micropenis. 1 This condition is classified according to brain structures into lobar, semilobar, and alobar, the latter being the most severe form. The most severe end of the spectrum is frequently lethal, but children with milder forms may live well into their teens with considerable developmental delay, endocrine dysfunction, and disrupted homeostasis. Among them, 30 cases (1.7%) with holoprosencephaly were prenatally identified and described. Alobar holoprosencephaly . 4, Seminars in Roentgenology, Vol. 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. Holoprosencephalic patients usually have various form of developmental delay depending upon severity and types. The ultrasound demonstrated a small head, hypotelorism, primitive ventricle, fused thalami, absent falx and septum pellucidum, cleft lip and palate. 2, 23 December 2002 | Ultrasound in Obstetrics and Gynecology, Vol. For more details see the article on alobar holoprosencephaly. "boomerang" configuration of the brain (peripheral rim of video demonstrating the fused ventricles in alobar holoprosencephaly at 12 weeks. The alobar holoprosencephaly occur in about 0.6–1.9 of 10.000 deliveries. Holoprosencephaly (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth defects.