80Med Genet 1993; 30: 880-882

Prenatal diagnosis of a giant intracranialteratoma associated with pulmonary hypoplasia

Leah K Weyerts, Val Catanzarite, Marilyn C Jones, Arturo Mendoza

Division of Genetics,Department ofPediatrics, EastCarolina UniversitySchool of Medicine,Brody 3E-140,Greenville, NC 27858,USA.L K Weyerts

Maternal-FetalMedicine andPerinatal Pathology,Mary Birch Hospitalfor Women at SharpMemorial Hospital,San Diego, CA, USA.V CatanzariteA Mendoza

Division ofDysmorphology,Children's Hospital ofSan Diego, San Diego,CA, USA.M C JonesCorrespondence toDr Weyerts.Received 26 February 1993.Revised version accepted13 April 1993.

AbstractWe present a case in which an intracra-nial tumour replacing all intracranialcontents was diagnosed by sonography at31 weeks' gestation. The patient was de-livered by caesarean section and diedshortly after delivery. At necropsy, thetumour was found to be a teratoma withno recognisable normal brain tissuepresent. Additional findings at necropsyincluded pulmonary and adrenal hypo-plasia. The diagnosis and prognosis ofintracranial teratomas diagnosed inutero, and the association of this tumourwith pulmonary hypoplasia, are dis-cussed.(J7 Med Genet 1993;30:880-2)

Teratomas are the most common intracranialneoplasms occurring in utero, but are veryrare; only about 20 cases have been diagnosedin utero.'-7 In most of these cases, sonographicevaluation was prompted in the late secondtrimester or third trimester by sudden ac-celeration in the growth of the uterus in apreviously uncomplicated pregnancy.45 Sono-graphic findings range from hydrocephalus inassociation with an intracranial mass to macro-cephaly with apparent replacement of normalintracranial structures with disorganised solidand cystic tumour masses; extracranial exten-sion has also been reported.7 With rare excep-tions, intracranial teratomas diagnosed inutero have fatal outcomes. Here, we present acase in which a massive intracranial tumour,presumed to be a teratoma, was diagnosed inutero. The fetus was found at delivery to havepulmonary hypoplasia. We speculate that de-struction of midbrain centres controlling res-

Figure 1 Ultrasound at 31 weeks' gestation. In this coronal view, the cysticcomponent of the tumour filling the upper portion of the cranial vault, and the solidcomponent below, are clearly seen.

piration occurred before 22 weeks' gestationand caused pulmonary hypoplasia.

Case reportA 28 year old G3, P1, SAbI woman presentedat 31 weeks' gestation with a history of acceler-ated weight gain, rapid growth of the uterinefundus, and dyspnoea. The pregnancy hadbeen previously uncomplicated. A routineultrasound examination had been performed at16 weeks' gestation and was reportedly nor-mal, although films were not available forreview. There had been no problems notedwhen the patient was seen at 28 weeks' gesta-tion, except for a 2 cm discrepancy betweenfundal height and the gestational age. Duringthe next three weeks, the patient experienced a49 kg weight gain with an associated 8 cmincrease in fundal height.At 31 weeks, cursory sonography for evalu-

ation of the size/dates discrepancy suggestedhydrocephalus and polyhydramnios. Thepatient was referred to the Sharp/Children'sprenatal diagnostic centre for a detailedsonographic evaluation. Ultrasound showedpolyhydramnios, placentomegaly, and macro-cephaly. The amniotic fluid index was approx-imately 40 cm (normal 6 to 24 cm). The pla-cental thickness ranged up to 8 cm, and thesubjective impression was that the placentalmass was more than twice the normal size for aterm pregnancy.Examination of the head and cranial con-

tents was remarkable. The biparietal diameterwas 14 0 cm (normal 7 4 to 7 6 cm). Althoughthe facial bony features and orbits were wellpreserved, no other normal intracranial struc-tures could be identified; specifically, normalmidbrain, cerebellum, ventricles, and cortexwere replaced by tumour. The lower twothirds of the cranial cavity was filled with a'bubbly' appearing solid mass; in the upperthird two large cystic structures were present,one on each side of the midline, when the headwas viewed in coronal section (fig 1). Therewere no large areas of calcification, but avariegated pattern of echodensities within the'bubbly' component was felt to be consistentwith numerous small calcifications.

Anatomical visualisation was limited owingto the fetal position, but normal anatomy of thespine, heart, kidneys, liver, and extremitieswas seen. The stomach bubble was not seendespite favourable orientation of the fetus dur-ing the scan. The bladder and genitalia couldnot be seen because of breech presentation. Nofetal movement was present.The diagnosis of an intracranial tumour,

probably a teratoma, was made. Because of

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Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasia

increasing maternal discomfort, deliveplanned within the next week. Owingsize and predominantly solid naturemass, as well as the breech presentation,ery was by classical caesarean sectionThe infant was bradycardic at delivery,spontaneous respirations, and was proncdead 25 minutes later.At necropsy, the cranium was ma

enlarged and completely filled withhaemorrhagic appearing mass. No ibrain architecture was identified. Allgerm layers were represented within theconfirming the diagnosis of intracraniatoma (fig 3). There was no extracranialsion of the tumour.

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Figure 2 The infant at birth.

V r., D~&W4.,

Figure 3 Photomicrograph of a section of the teratoma showing cartilage, neurtissue, smooth muscle, mixed mucinous and serous epithelium, respiratory epitheland squamous epithelium.

A gestational age of 32-5 weeks was deter-mined by foot length measurement (6-3 cm).In addition to the intracranial pathology, adiffusely enlarged liver (178 g, normal 76 g),small adrenals (1-6 g, normal 5 0 g), and hypo-plastic lungs (24 g, normal 38 ± 10 g) werenoted. Microscopic examination showedreduced radial alveolar counts, confirming thediagnosis of pulmonary hypoplasia.The placenta was large (570 g, normal 290 to

320 g) and spongy. Microscopic examinationshowed diffuse chorionic villus oedema andpigmented macrophages within the amnion.Chorionic villus oedema has been reported inassociation with sacrococcygeal teratomas, butnot with intracranial teratomas. The fetus andthe teratoma both had 46,XX chromosomecomplements, with identical pericentromericmarkers.The mother has subsequently had a term

delivery of a normal infant.

DiscussionTeratomas are the most common fetal tumours,with intracranial teratomas second in frequencyonly to sacrococcygeal teratomas.f'0 Terato-mas represent half of all neonatal intracranialneoplasms.4There are 20 previous reports of prenatal

diagnosis of intracranial teratomas1-7 andamong these there was only one survivor. Thisinfant had complete resection of a malignantintracranial teratoma, but has severe intellec-tual impairment.5 The sonographic diagnosisof intracranial teratoma has usually occurredin the setting of rapid increase in the fundalheight during the late second and third trimes-ter; sonography shows polyhydramnios andeither macrocephaly with a large intracranialtumour, or hydrocephalus and a mass lesion.In cases with diagnosis several weeks beforedelivery, increase in the size of the mass and ofthe fetal head has been dramatic.2The differential diagnosis of fetal intracranial

masses includes teratoma, neuroectodermaltumours, astrocytomas, glioblastoma multiform,and choroid plexus papilloma.6 Additionally,there has been one report in which intracranialteratoma was suspected, but the fetus provedX * to have evolving hydranencephaly." There

- s-t have only been a handful of sonographic dia-gnoses of intracranial tumours other than tera-tomas in utero,' and differentiation of teratomafrom other tumours cannot currently be madewith certainty until after delivery.

Extracranial abnormalities noted at nec-ropsy in cases of congenital intracranial terato-mas have not been well described. In thepresent case, extracranial features includedhepatomegaly, adrenal hypoplasia, and pul-monary hypoplasia. Odell et aP described'congestive hepatomegaly' in one case and'pulmonary immaturity' in the other. The de-gree of pulmonary hypoplasia seen in this casehas not been described before.

Pal Proposed mechanisms of the pathogenesis oflium, pulmonary hypoplasia include extrinsic re-

straint, through space occupying lesions such

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Weyerts, Catanzarite, _rones, Mendoza

as in diaphragmatic hernia, lack of amnioticfluid as in prolonged oligohydramnios, andlack of fetal breathing movements such as inthe fetal akinesia sequence.'2 It is believed thatnot only the presence of amniotic fluid, butalso movement of the fetal diaphragm, isnecessary for normal lung growth. In the casepresented here, we speculate that damage ordestruction of the central control mechanismsfor fetal breathing occurred well before theclinical presentation and resulted in lunghypoplasia through lack of movement of thediaphragm. The adrenal hypoplasia would alsobe consistent with early destruction of pitui-tary tissue as this is a common feature inanencephalic infants.

Intracranial teratomas diagnosed in uterohave an almost uniformly fatal outcome. Thiscase shows the rapidly destructive nature ofthese tumours as the pituitary and brainstemfunctions appear to have been affected beforeclinical symptoms appeared.

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5 Oi S, Tamaki N, Kondo T, et al. Massive congenitalintracranial teratoma diagnosed in utero. Childs Nerv Syst1990;6:459-61.

6 Kwoon T, Jeanty P. Cystic teratoma. The Fetus 1990;1:7-9.7 Rostad S, Kleinschmidt-DeMasters BK, Manchester DK.

Two massive congenital intracranial immature teratomaswith neck extension. Teratology 1985;32:163-9.

8 Tamura H, Kury G, Suzuki K. Intracranial teratomas infetal life and infancy. Obstet Gynecol 1966;27:134-41.

9 Ventureyra E, Herder S. Neonatal intracranial teratoma. .7Neurosurg 1983;59:879-83.

10 Nanda A, Scchut L, Sutton L. Congenital forms of intra-cranial teratoma. Childs Nerv Syst 1991;7:112-14.

11 Belfar H, Kuller J, Hill L, Kislak S. Evolving fetal hydren-cephaly mimicking intracranial neoplasm. _7 UltrasoundMed 1991;10:231-3.

12 Adzick NS, Harrison M. Experimental pulmonary hypo-plasia. In: The unborn patient: prenatal diagnosis andtreatment. 2nd ed. Chapter 48. Philadelphia: Saunders,1990:557-64.

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