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Alfred B. Kurtz, MD Pamela T.

Johnson, MD

Case 7: Hydranencephaly1

a.

b. Figure 1. US images of the fetal head at 36 weeks gestation. (a) Transaxial image near the vertex demonstrates a discontinuous falx midline echo (curved arrow). There is no identifiable cortical mantel. (b) Transaxial image at the level of the normal thalami (T) again shows the disrupted falx midline echo (curved arrow). Normal hyperechoic choroid plexuses (straight arrows) are seen posterior to the thalami, and a small amount of occipital cortex remains, posterior to both. There again is no demonstrable cortical mantle (the echoes seen are artifactual). (c) Transaxial image slanted posteriorly to depict the posterior fossa demonstrates the midbrain (M) and the disrupted falx echo (curved arrow). The triangular posterior fossa with an intact cerebellum (straight arrows) and a normal cisterna magna (*) are seen.

c.

Index terms: Brain, abnormalities Brain, growth and development Fetal, abnormalities Diagnosis please Radiology 1999; 210:419–422
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HISTORY
A 22-year-old pregnant woman, gravida 4 para 3 (with three normal children) presented at 34 gestational weeks for her first prenatal care visit. Ultrasonographic (US) images showed an enlarged head in a single, live fetus (Fig 1). One month later, the woman was delivered of a 4,870 g (10 lb 7 oz) boy by means of cesarean section. The newborn had a head circumference of 42 cm (normal ϭ 34.5 cm). Computed tomography (CT) of the newborn’s head was performed on day 2 (Fig 2).
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From the Department of Radiology, Thomas Jefferson University Hospital, Gibbon Bldg 3350AB, 111 S 11th St, Philadelphia, PA 19107. Received February 17, 1998; revision requested March 18; revision received April 8; accepted June 10. Address reprint requests to A.B.K. ௠ RSNA, 1999

isolated abnormality occurring in less than 1 per 10. the fetal head would be expected to be small. It is the most severe form of bilateral cerebral cortical destruction. including cerebellum. Both of these findings were present in this case. (a) Transaxial view near the vertex shows a disrupted falx (curved arrow). b. without use of intravenous contrast material. The cerebellum. The posterior fossa including the cerebellum was normal. CT of the newborn’s head was performed without intravenous contrast material (Fig 2). unusual ‘‘masses’’ of hemorrhage and soft tissue may be seen (4). the head is more often normal or increased in size because the choroid plexuses within the lateral ventricles continue to produce cerebral spinal fluid that is not adequately absorbed. and alobar holoprosencephaly (a developmental anomaly). IMAGING FINDINGS US scans (Fig 1) of the enlarged fetal head demonstrated a discontinuous falx midline echo and no identifiable cortical mantel.a. posterior to both. c. The midbrain was preserved and an image of the posterior fossa demonstrated an intact cerebellum and a normal cisterna magna. and a small amount of occipital cortex remained. No normal cortical mantle except some occipital cortex could be identified. The brain destruction is complete or almost complete in a bilateral internal carotid artery distribution. this cannot always be confirmed because Kurtz and Johnson . choroid plexus. With most of the cerebral cortex absent. Some occipital cortex (open arrows) remains. and portions of the occipital lobes. CT scan of the newborn’s head. No normal cortical mantle remains. all fed by the posterior circulation. midbrain. A disrupted falx was noted. Normal hyperechoic choroid plexuses were seen posterior to normal thalami. which may expand the head and lead to rupture of the falx cerebri. Two days after delivery. severe hydrocephalus. During the destructive phase. Figure 2. While the pathogenesis of hydranencephaly is thought to be a vascular accident. thalami. with the cerebral hemispheres replaced by fluid covered with leptomeninges and dura. (c) Transaxial view through the base shows a normal posterior fossa. basal ganglia. Because the ventricles have already been formed. The differential diagnosis includes bilaterally symmetric schizencephaly 420 • Radiology • February 1999 (a less severe destructive process). (b) Transaxial view at the level of the normal thalami (T) shows normal choroid plexuses (solid arrows) posteriorly. usually in the second trimester. normal choroid plexuses were seen posteriorly. the falx cerebri is present. Hydranencephaly occurs after the brain and ventricles have fully formed. At the level of the normal thalami. DISCUSSION Hydranencephaly is a rare. Although this may occur.000 births worldwide (1–3). This causes increased pressure. are typically preserved.

have been implicated in a number of cases. The head is often considerably smaller than the body. Pa: Saunders. particularly toxoplasmosis and viral infections (enterovirus. multiple anomaly syndromes. 2. herpes simplex. 199–218. the head is normal to enlarged with an identifiable falx cerebri. its most severe form. parvovirus. and abnormal karyotype (7). When caused by middle cerebral artery infarctions. eds. an absent falx. Campbell S. and respiratory syncytial viruses). adenovirus. which may be disrupted in severe cases. Ultrasonography in obstetrics and gynecology. eds. If hydranencephaly were definitively diagnosed in utero. Brown.000 births. Although there are many causes. 3. Ultrasound in obstetrics and gynecology. Depending on the level of obstruction. internal carotid arteries are not always occluded at autopsy (1). Ill: Year Book Medical. Coronal US image of a small fetal head shows fused thalami (T). There are important reasons to differentiate hydranencephaly from hydrocephalus. A transaxial US scan of a fetus at 30 weeks gestation demonstrates an enlarged fetal head with thinned but present temporoparietal cortical mantle (arrows) along the posterolateral aspect of the calvaria. Diagnostic ultrasound of fetal anomalies: text and atlas. Intrauterine infections. a cesarean section must be seriously considered. Isaacson GC. In: Callen PW. Alobar holoprosencephaly in a fetus at 22 weeks gestation. The falx cerebri is also preserved.Figure 3. these children may linger into their teenage years. Mahony BS. Holoprosencephaly is a developmental anomaly resulting from absent or incomplete diverticulation of the forebrain (prosencephalon) and occurs in 1 in 16. R ϭ right. and hydranencephaly has been described in rare syndromes (5). Hydranencephaly • 421 . 1187–1188. Alobar. In: Nyberg DA. Ultrasound evaluation of the fetal neural axis. an intact rim of cortex is always present even in the most severe forms of hydrocephalus (Fig 3). shows no separation of the ventricles. have an unpredictable prognosis. however. In aqueductal stenosis. On the other hand. ed. References 1. The third ventricle (*) is also dilated between the thalami. Nyberg DA. mimic severe hydrocephalus (dilated lateral ventricles)(2). cephalocentesis could be offered to decompress the fetal head. it cannot be appreciated because of reverberation artifacts. A monoventricle (V) is identified without a normal falx echo. leading to hydranencephaly in the surviving fetus (6). Hydrocephalus is often not an isolated anomaly and can be associated with other intracranial abnormalities. as with hydranencephaly. Rarely. these reasons relate to prognosis and management (8. Figure 4. a dilated third ventricle can often also be identified. L ϭ left. 1993. While this may damage the fetal head further. Philadelphia. both the frontal and parietooccipital cortex are preserved. The incidence of hydrocephalus approaches 1 in 1. on first impression. Cerebral malformations. Abnormal brain growth and development may result. hydranencephaly has an irretrievably poor prognosis. The fetal head can be either normal or enlarged. dependVolume 210 • Number 2 ing on the timing of the occlusions. Chervenak FA. Epstein-Barr. Pretorius DH. In: Chervenak FA. be difficult to identify prenatally.9). they often die soon after. if hydrocephalus were present. Pretorius DH. Although most hydranencephalic children survive birth. the most common is an Arnold-Chiari type II malformation secondary to a spina bifida. Vol 3. 98–121. thus allowing a vaginal delivery. In contradistinction. It may. particularly without the presence of other anomalies. Filly RA. The most severe cases. Although the temporoparietal cortical mantle is also present anteriorly. 1990. and partial fusion of the thalami (Fig 4). Moderate to severe hydrocephalus secondary to aqueductal stenosis. Isaacson GC. If the fetal head is enlarged. Toxic exposures and cocaine abuse have been reported. porencephalic cysts appear as bilateral fluid-filled clefts that communicate with the ventricles and is called schizencephaly. with only brain stem function remaining. Mass: Little. Boston. are usually secondary to aqueductal stenosis.000 live births worldwide. concomitant dilatation of the third and fourth ventricles may be seen. Chicago. In monochorionic twin pregnancies. Hydranencephaly may. without chromosomal or other structural abnormalities. Campbell S. it will not change the outcome and will importantly spare the mother an unnecessary operation. and there are often additional and marked abnormalities. Children with hydrocephalus. Hydranencephaly. the differentiation of hydranencephaly from hydrocephaly has added importance because an enlarged head may not be able to be delivered vaginally. 1994. Unlike in hydranencephaly. A porencephalic cyst is a focal area of cortical destruction (1. mentation may in some cases be normal. cytomegalic. Unlike in hydranencephaly.2). With hydrocephalus. With proper ventricular shunt after birth. 3rd ed. however. death of one twin in the second trimester may cause a vascular exchange to the living twin through the placental circulation.

Canada Steven L. MD.4. MD. MD. Portugal Gildo Matta. Pa Can Cevikol. Snijders RJM. MD. Kan Craig D. Anderson. Gaza. Karahashi M. Richmond. Spain Lowrey H. DO. MD. the Netherlands James F. Turkey Aake Karlsson Douglas S. MD. Newburgh. MD. MD. Barone. MD. MD. Enid. Germany Simon Strauss. Shreveport. Korbin. Radiology 1985. Argentina Eduardo Mondello. DiMarcangelo. Kulkarni. Hong Kong. Flushing. Hydranencephaly: US appearance during in utero evolution. Mass Jeffrey Friedland. Fruman. Haarlem. G. Feinstein. Ala Dr Eduardo Sanchez Heras Paul S. Colo Mary C. Ill Laura Zindell Fenton. ROC Dong Lin Kwak. Colombia Herminia Tyminski. Ill Gary Podolny. Chicago. Dayton. Melilla. NY Ji Chang Kim. Fort Worth. NC M. MD Steven M. Richmond. Japan Dr. MD. Benacerraf B. ROC Edward W. Smith. Saudi Arabia A. FRACR. Creve Coeur. India Athanassios D. Ontario. Buenos Aires. 6. Conn Jong Beum Lee. Conard III. Mass Yoshihisa Shimanuki. FRCR. J Child Neurol 1989. Jones KL. Cagliari. Maracay. 6:34–38. Hydranencephaly versus maximal hydrocephalus: an important clinical distinction. MD. Richmond. Keith Thompson. New York. Ill Zubin N. Ultrasonographically detectable markers of fetal chromosomal abnormalities. MD. MD. the Netherlands Andrew L. I. Va Akira Fujikawa. MAJ USA MC. Richmond. Williams. Hawaii Christopher Sweet. Wis Jonathan Foss. MD. Moguillansky. Previgliano. Lebanon Carlos Triana Rodriguez. Al-Agha. Israel Jeffrey Y. Rhett Austin. Dhahran. Wash Oscar Tenreiro Picon. Hartford. Santiago. Hydranencephaly and maternal cocaine use: a case report. Gosden CM. MD. Va David R. Lancet 1992. MD. Seattle. FRACR. MD. Greece Eric L. MSc. NY Shawn P. MD. Mexico Tim L. Mich Steven Medwid. MD. Venezuela Lorenz (Larry) Ramseyer. Canada Aksel Ongre. 156:779–780. Turkey Waldo Sepulveda. Kojima A. Miller. van Zanten. Rajesh Gothi. Sover. Bronx. MD. Argentina Anita Price. Iowa Marius Stellmann. DO. Buenos Aires. Va Carlos Holguera Blazquez. Va Joseph Z. Taiwan. Wash Nikos P. Denver. Argentina Silvia Moguillansky. Colo Sylvia H. MD. Fairchild AFB. MD. MD. Oaxaca. Sie. Foster. Schultz. Japan L. Kfar Shmaryahu. NJ John Bennett. Argentina Albert Nizzero. Gondomar. Salta. Ohio Majed Ashour.H. 9. NC Chien-Kuo Wang. Korea Ronaldo Lessa. 67:288–291. Windsor. MD. Berry C. MD. MD. Williamsville. Clin Pediatr 1990. Glass. Epperson. Porto. Okla Enrique Remartinez Escobar. MD. MD. Wis Joanne B. Fargo. 340:704–707. Utku Senol. Ore Jeffrey J. MD. Tokyo. Mineola. MD. San Francisco. British West Indies Joseph T. Cherry Hills Village. Sudbury. Wichita. MD. Branford. NY Eduardo Pavon Tinoco MD. MD. Va Michael S. Minnetonka. MD. Chicago. MD. Iowa City. Shrewsbury. Clarkston. Patel. MD. Lazzarini. MD. Madrid. Jr. Higginbottom MC. Bezinque. Estado Trujillo. Birmingham. Bontozoglou. Brookline. MD. Gordon MD. Ohio A. NY Stuart A. Argentina David R. Wagner. Scuderi. Taejon. MD. Va Oswaldo A. MD. Klink. MD. MD. NY Anto ´ nio Jose ´ Madureira. Botswana 422 • Radiology • February 1999 Kurtz and Johnson . ND Dulce Gomez-Santos. Argentina Derek J. Arendal. MD. MD. Conn Philippe A. Perez Gautrin. Mineola. Joseph Grunz. Mass Dawna J Kramer. Rais-Bahrami K. Toutounji. MD. Pinto. New York. Bruce DA. 7. Seattle. Knudtson. MD. E. Wash Dr Roberto E. Burke. Ontario. are as follows: Gholamali Afshang. Naqvi M. North Bridgton. MD. Royal. MD. MD. 4:114–117. Crawford JM. MD. Calif Frank H. Beverwijk. Bressler. MD. MD. Katz. MD. La Elizabeth Hingsbergen. France Mark T. Va Roger L. S. Hayamizu S. India Sunita Gupta. Roanoke. Ontario. MD. Wroblicka. Ford. Hoyme HE. Pendergrass. Case 7. Boxborough. Turkey Ercument Ciftci. FRCPC. Calif Kenneth Baliga. West Linn. Norway Mahesh R. Their names and locations. Amherst. 29:729–730. Rio Negro. Ill Pedro J. Weston. Speigle. MD. Minn Steve Burbidge. Calif Daniel S. Athens. MD. Me Maureen Heldmann. Santefe de Bogota. Handa I. Hydranencephaly and maximal hydrocephalus: usefulness of electrophysiological studies for their differentiation. Colo Arnold C. Portugal John Plotke. Glendale. Big Stone Gap. New Delhi. Canada Ronald B. MD. Shiga. MD. Iinuma K. Japan Jacob A. St Louis Park. Sao Paulo. Vienna. Kanagawa. MD. Cran-Gevrier. Brazil Javier Rodriguez Lucero. Mo Michael A. Wis Arlene M. United Kingdom Peter English. MD. Rotenburg. Spain Devang Gor. MBChB. MD. Harrison. Head. Taiwan. Sonora. MD. Beirut. Tenn Edward L. Rocha Mello. St Louis. Madrid. Richmond. Brazil Julio Loureiro. London. Schaefer. Frates. China Keith D. MD. Wis Kate A. MD. Our congratulations to the 139 individuals who submitted the most likely diagnosis (hydranencephaly) for Diagnosis Please. Italy James M. Chicago. Coquel. Fort Smith. Columbia. DO. MD. NY Ishikawa Goemon. Hong Kong. Wash Dr. Fall River. Ramos. Costa Mesa. Yamagata. MD. MD. Tokyo. Boston. Vascular etiology of disruptive structural defects in monozygotic twins. Kingsport. MD. McAfee. Japan Hidetoshi Miyake. MD. MD. Manucher Alavi. Charlotte. MD. India Yu-Ting Kuo. Antalya. Petry. Balsara. 8. R. Brookfield. Oita. Antalya. Japan Douglas Gardner. Manama. Nicolaides KH. MD. Quillin. Milwaukee. MD. McClure. Neurosurgery 1980. Holthaus. MD. MD. Spain Marco A. MD. Honolulu. China Stuart A. Ludhiana. Aberdeen. Cherry Hill. Francistown. Tex Anthony J. Schut L. Roebuck. Japan Sergio J. Ludwig. Baker. Renee G. Park City. Ramakrishnan. Va Kamil Karaali. Mo Mark Guelfguat. MD. Aptos. Campbell S. Gaborone. Stecker. Cayman Islands. MD. Utah Carlos H. Bahrain T. Mercer Island. Sanford. DO. Iowa City. MD. MD. Mass Edward Menges. Israel S. MD. Japan J. Grand Rapids. Greene MF. Pediatrics 1981. Tinley Park. MD. MD. Cambridge. H. Ill S. Va Kathleen M. MD. MD. Richmond. NY Tom Bonk. MD. MDCM. Toledo. New Delhi. MD. Santa Fe. MD. Goldenberg. Ill Manabu Minami. Botswana David C. Huntingdon. Zhang Youbin. 5. Antonelli. Minn Joseph W. MD. Greece D. Naperville. MD. Tex Frederick U. Seoul. Korea Mitchell Klein. Mich Koyama Takashi. Gouliamos. MD. MD. Friedman. MD. Rockford. Sue. Milwaukee. MD. as submitted. Sutton LN. MD. NC Dr. DMRD. Buenos Aires. Mass Rufus W. NJ Vinay Duddalwar. NY John D. Houston. Venezuela J. Ark Cynthia A. Antalya. Durham. Mass Narendrakumar Patel. MD. MD. MD. J. Mo Eric R. Green Bay. Iowa Masanobu Yasuda. Takasugi. MD Hassan Semaan. Kyoto. NY Dr Arunima Gupta. Recife. Athens. Mexico Marvin W. Chile Matt Shapiro.