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; 210:419422
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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 34.5 cm). Computed tomography (CT) of the newborns 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

a.

c. Figure 2. CT scan of the newborns head, without use of intravenous contrast material. (a) Transaxial view near the vertex shows a disrupted falx (curved arrow). No normal cortical mantle remains. (b) Transaxial view at the level of the normal thalami (T) shows normal choroid plexuses (solid arrows) posteriorly. Some occipital cortex (open arrows) remains. (c) Transaxial view through the base shows a normal posterior fossa, including cerebellum.

b.

IMAGING FINDINGS
US scans (Fig 1) of the enlarged fetal head demonstrated a discontinuous falx midline echo and no identifiable cortical mantel. Normal hyperechoic choroid plexuses were seen posterior to normal thalami, and a small amount of occipital cortex remained, posterior to both. The midbrain was preserved and an image of the posterior fossa demonstrated an intact cerebellum and a normal cisterna magna. Two days after delivery, CT of the newborns head was performed without intravenous contrast material (Fig 2). A disrupted falx was noted. No normal cortical mantle except some occipital cortex could be identified. At the level of the normal thalami, normal choroid plexuses were seen posteriorly. The posterior fossa including the cerebellum was normal.

DISCUSSION
Hydranencephaly is a rare, isolated abnormality occurring in less than 1 per 10,000 births worldwide (13). It is the most severe form of bilateral cerebral cortical destruction. The differential diagnosis includes bilaterally symmetric schizencephaly
420 Radiology February 1999

(a less severe destructive process), severe hydrocephalus, and alobar holoprosencephaly (a developmental anomaly). Hydranencephaly occurs after the brain and ventricles have fully formed, usually in the second trimester. The brain destruction is complete or almost complete in a bilateral internal carotid artery distribution, with the cerebral hemispheres replaced by fluid covered with leptomeninges and dura. During the destructive phase, unusual masses of hemorrhage and soft tissue may be seen (4). Because the ventricles have already been formed, the falx cerebri is present. The cerebellum, midbrain, thalami, basal ganglia, choroid plexus, and portions of the occipital lobes, all fed by the posterior circulation, are typically preserved. With most of the cerebral cortex absent, the fetal head would be expected to be small. Although this may occur, 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. This causes increased pressure, which may expand the head and lead to rupture of the falx cerebri. Both of these findings were present in this case. While the pathogenesis of hydranencephaly is thought to be a vascular accident, this cannot always be confirmed because
Kurtz and Johnson

Figure 3. Moderate to severe hydrocephalus secondary to aqueductal stenosis. 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. The third ventricle (*) is also dilated between the thalami. Although the temporoparietal cortical mantle is also present anteriorly, it cannot be appreciated because of reverberation artifacts.

Figure 4. Alobar holoprosencephaly in a fetus at 22 weeks gestation. Coronal US image of a small fetal head shows fused thalami (T). A monoventricle (V) is identified without a normal falx echo. L left, R right.

internal carotid arteries are not always occluded at autopsy (1). Intrauterine infections, particularly toxoplasmosis and viral infections (enterovirus, adenovirus, parvovirus, cytomegalic, herpes simplex, Epstein-Barr, and respiratory syncytial viruses), have been implicated in a number of cases. Toxic exposures and cocaine abuse have been reported, and hydranencephaly has been described in rare syndromes (5). In monochorionic twin pregnancies, death of one twin in the second trimester may cause a vascular exchange to the living twin through the placental circulation, leading to hydranencephaly in the surviving fetus (6). Hydranencephaly may, on first impression, mimic severe hydrocephalus (dilated lateral ventricles)(2). Depending on the level of obstruction, concomitant dilatation of the third and fourth ventricles may be seen. The incidence of hydrocephalus approaches 1 in 1,000 births. Although there are many causes, the most common is an Arnold-Chiari type II malformation secondary to a spina bifida. The most severe cases, however, are usually secondary to aqueductal stenosis. Hydrocephalus is often not an isolated anomaly and can be associated with other intracranial abnormalities, multiple anomaly syndromes, and abnormal karyotype (7). With hydrocephalus, as with hydranencephaly, the head is normal to enlarged with an identifiable falx cerebri, which may be disrupted in severe cases. Unlike in hydranencephaly, an intact rim of cortex is always present even in the most severe forms of hydrocephalus (Fig 3). It may, however, be difficult to identify prenatally. In aqueductal stenosis, a dilated third ventricle can often also be identified. A porencephalic cyst is a focal area of cortical destruction (1,2). When caused by middle cerebral artery infarctions, porencephalic cysts appear as bilateral fluid-filled clefts that communicate with the ventricles and is called schizencephaly. Unlike in hydranencephaly, both the frontal and parietooccipital cortex are preserved. The falx cerebri is also preserved. Abnormal brain growth and development may result, dependVolume 210 Number 2

ing on the timing of the occlusions. The fetal head can be either normal or enlarged. Holoprosencephaly is a developmental anomaly resulting from absent or incomplete diverticulation of the forebrain (prosencephalon) and occurs in 1 in 16,000 live births worldwide. Alobar, its most severe form, shows no separation of the ventricles, an absent falx, and partial fusion of the thalami (Fig 4). The head is often considerably smaller than the body, and there are often additional and marked abnormalities. There are important reasons to differentiate hydranencephaly from hydrocephalus; these reasons relate to prognosis and management (8,9). Children with hydrocephalus, without chromosomal or other structural abnormalities, have an unpredictable prognosis. With proper ventricular shunt after birth, mentation may in some cases be normal. In contradistinction, hydranencephaly has an irretrievably poor prognosis, with only brain stem function remaining. Although most hydranencephalic children survive birth, they often die soon after. Rarely, these children may linger into their teenage years. If the fetal head is enlarged, the differentiation of hydranencephaly from hydrocephaly has added importance because an enlarged head may not be able to be delivered vaginally. If hydranencephaly were definitively diagnosed in utero, cephalocentesis could be offered to decompress the fetal head, thus allowing a vaginal delivery. While this may damage the fetal head further, it will not change the outcome and will importantly spare the mother an unnecessary operation. On the other hand, if hydrocephalus were present, particularly without the presence of other anomalies, a cesarean section must be seriously considered.
References 1. Filly RA. Ultrasound evaluation of the fetal neural axis. In: Callen PW, ed. Ultrasonography in obstetrics and gynecology. 3rd ed. Philadelphia, Pa: Saunders, 1994; 199218. 2. Nyberg DA, Pretorius DH. Cerebral malformations. In: Nyberg DA, Mahony BS, Pretorius DH, eds. Diagnostic ultrasound of fetal anomalies: text and atlas. Chicago, Ill: Year Book Medical, 1990; 98121. 3. Chervenak FA, Isaacson GC, Campbell S. Hydranencephaly. In: Chervenak FA, Isaacson GC, Campbell S, eds. Ultrasound in obstetrics and gynecology. Vol 3. Boston, Mass: Little, Brown, 1993; 11871188.
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4.

Greene MF, Benacerraf B, Crawford JM. Hydranencephaly: US appearance during in utero evolution. Radiology 1985; 156:779780. 5. Hoyme HE, Higginbottom MC, Jones KL. Vascular etiology of disruptive structural defects in monozygotic twins. Pediatrics 1981; 67:288291. 6. Rais-Bahrami K, Naqvi M. Hydranencephaly and maternal cocaine use: a case report. Clin Pediatr 1990; 29:729730. 7. Nicolaides KH, Snijders RJM, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 1992; 340:704707.

8.

Sutton LN, Bruce DA, Schut L. Hydranencephaly versus maximal hydrocephalus: an important clinical distinction. Neurosurgery 1980; 6:3438. 9. Iinuma K, Handa I, Kojima A, Hayamizu S, Karahashi M. Hydranencephaly and maximal hydrocephalus: usefulness of electrophysiological studies for their differentiation. J Child Neurol 1989; 4:114117.

Our congratulations to the 139 individuals who submitted the most likely diagnosis (hydranencephaly) for Diagnosis Please, Case 7. Their names and locations, as submitted, are as follows:

Gholamali Afshang, MD, Tinley Park, Ill S. I. Al-Agha, MD, Gaza, Israel S. Manucher Alavi, MD, Richmond, Va David R. Anderson, MD, Richmond, Va Roger L. Antonelli, MD, Dayton, Ohio Majed Ashour, MD, Dhahran, Saudi Arabia A. Rhett Austin, MD, Kingsport, Tenn Edward L. Baker, MD, San Francisco, Calif Kenneth Baliga, Rockford, Ill Zubin N. Balsara, MD, Fort Smith, Ark Cynthia A. Barone, DO, Shrewsbury, NJ John Bennett, MDCM, FRCPC, London, Ontario, Canada Steven L. Bezinque, DO, Williamsville, NY Tom Bonk, MD, Seattle, Wash Nikos P. Bontozoglou, MD, Athens, Greece Eric L. Bressler, MD, Minnetonka, Minn Steve Burbidge, MD, St Louis Park, Minn Joseph W. Burke, MD, Huntingdon, Pa Can Cevikol, Antalya, Turkey Ercument Ciftci, MD, Houston, Tex Frederick U. Conard III, MD, Hartford, Conn Philippe A. Coquel, MD, Cran-Gevrier, France Mark T. DiMarcangelo, DO, MSc, Cherry Hill, NJ Vinay Duddalwar, Aberdeen, United Kingdom Peter English, FRACR, Hong Kong, China Keith D. Epperson, MD, Milwaukee, Wis Kate A. Feinstein, MD, Chicago, Ill Laura Zindell Fenton, MD, Denver, Colo Sylvia H. Ford, MD, Green Bay, Wis Jonathan Foss, MD, St Louis, Mo Michael A. Foster, MD, Cherry Hills Village, Colo Mary C. Frates, MD, Boston, Mass Jeffrey Friedland, Glendale, Colo Arnold C. Friedman, MD, New York, NY Stuart A. Fruman, MD, Vienna, Va Akira Fujikawa, Tokyo, Japan Douglas Gardner, MD, Windsor, Ontario, Canada Ronald B. J. Glass, MD, New York, NY Ishikawa Goemon, Shiga, Japan Jacob A. Goldenberg, MD, Fargo, ND Dulce Gomez-Santos, MD, Madrid, Spain Devang Gor, DMRD, Costa Mesa, Calif Daniel S. Gordon MD, MAJ USA MC, Sanford, NC Dr. Rajesh Gothi, New Delhi, India Athanassios D. Gouliamos, Athens, Greece D. Joseph Grunz, MD, Creve Coeur, Mo Mark Guelfguat, Flushing, NY Dr Arunima Gupta, Ludhiana, India Sunita Gupta, MD, Francistown, Botswana David C. Harrison, MD, Cambridge, Mass Rufus W. Head, MD, North Bridgton, Me Maureen Heldmann, MD, Shreveport, La Elizabeth Hingsbergen, MD, Richmond, Va Carlos Holguera Blazquez, MD, Madrid, Spain Lowrey H. Holthaus, MD, Richmond, Va Kamil Karaali, Antalya, Turkey Aake Karlsson Douglas S. Katz, MD, Mineola, NY Ji Chang Kim, MD, Taejon, Korea Mitchell Klein, MD, Milwaukee, Wis Arlene M. Klink, MD, Bronx, NY John D. Knudtson, MD, Wichita, Kan Craig D. Korbin, MD, Weston, Mass Dawna J Kramer, MD, Seattle, Wash Dr. Renee G. Kulkarni, New Delhi, India Yu-Ting Kuo, MD, Taiwan, ROC Dong Lin Kwak, MD, Roanoke, Va Kathleen M. Lazzarini, MD, Branford, Conn Jong Beum Lee, MD, Seoul, Korea

Ronaldo Lessa, Jr, MD, Recife, Brazil Julio Loureiro, MD, Buenos Aires, Argentina David R. Ludwig, MD, Amherst, NY Anto nio Jose Madureira, MD, Porto, Portugal Gildo Matta, MD, Cagliari, Italy James M. McAfee, MD, West Linn, Ore Jeffrey J. McClure, MD, Grand Rapids, Mich Steven Medwid, MD, Fall River, Mass Edward Menges, MD, Aptos, Calif Frank H. Miller, MD, Chicago, Ill Manabu Minami, MD, Tokyo, Japan Hidetoshi Miyake, MD, Oita, Japan Sergio J. Moguillansky, MD, Rio Negro, Argentina Silvia Moguillansky, Buenos Aires, Argentina Eduardo Mondello, Buenos Aires, Argentina Albert Nizzero, MD, Sudbury, Ontario, Canada Aksel Ongre, Arendal, Norway Mahesh R. Patel, MD, Brookline, Mass Narendrakumar Patel, MD, Newburgh, NY Eduardo Pavon Tinoco MD, Oaxaca, Mexico Tim L. Pendergrass, MD, Fairchild AFB, Wash Dr Roberto E. Perez Gautrin, Sonora, Mexico Marvin W. Petry, MD, Chicago, Ill Pedro J. S. Pinto, MD, Gondomar, Portugal John Plotke, MD, Naperville, Ill Gary Podolny, MD, Park City, Utah Carlos H. Previgliano, MD, Salta, Argentina Anita Price, MD, Mineola, NY Shawn P. Quillin, MD, Charlotte, NC M. R. Ramakrishnan, MD, Big Stone Gap, Va Oswaldo A. Ramos, MD, Estado Trujillo, Venezuela Lorenz (Larry) Ramseyer, MD, Enid, Okla Enrique Remartinez Escobar, Melilla, Spain Marco A. Rocha Mello, MD, Sao Paulo, Brazil Javier Rodriguez Lucero, MD, Santa Fe, Argentina Derek J. Roebuck, FRACR, Hong Kong, China Stuart A. Royal, MD, Birmingham, Ala Dr Eduardo Sanchez Heras Paul S. Schaefer, MD Steven M. Schultz, MD, Fort Worth, Tex Anthony J. Scuderi, MD Hassan Semaan, Toledo, Ohio A. Utku Senol, Antalya, Turkey Waldo Sepulveda, MD, Santiago, Chile Matt Shapiro, MD, Boxborough, Mass Yoshihisa Shimanuki, MD, Yamagata, Japan L.H. Sie, MD, Beverwijk, the Netherlands James F. Smith, Columbia, Mo Eric R. Sover, DO, Brookfield, Wis Joanne B. Speigle, MD, Richmond, Va Michael S. Stecker, MD, Iowa City, Iowa Marius Stellmann, MD, Rotenburg, Germany Simon Strauss, MBChB, Kfar Shmaryahu, Israel Jeffrey Y. Sue, MD, Honolulu, Hawaii Christopher Sweet, MD, Clarkston, Mich Koyama Takashi, Kyoto, Japan J. Takasugi, Mercer Island, Wash Oscar Tenreiro Picon, MD, Maracay, Venezuela J. Keith Thompson, MD, Richmond, Va Joseph Z. H. Toutounji, MD, Beirut, Lebanon Carlos Triana Rodriguez, Santefe de Bogota, Colombia Herminia Tyminski, MD, Manama, Bahrain T. E. G. van Zanten, MD, Haarlem, the Netherlands Andrew L. Wagner, MD, Durham, NC Chien-Kuo Wang, MD, Taiwan, ROC Edward W. Williams, FRCR, Cayman Islands, British West Indies Joseph T. Wroblicka, MD, Iowa City, Iowa Masanobu Yasuda, MD, Kanagawa, Japan Dr. Zhang Youbin, Gaborone, Botswana

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