The bubbling fetus: An atypical case of prenatal cystic epignathus
Accepted Article
teratoma. Benjamin Deloison*, Demetra Socolov**, Patricia Hornoy***, Gerard Couly****, Yves Ville*, Laurent J Salomon*
*Department of obstetric and fetal medicine, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital NeckerEnfant Malades, Paris France ** Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Gr.T.Popa, Iasi, Romania. *** Department of Radiology, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital Cochin-Port Royal, Paris France ****Department of maxilla-facial surgery, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital Necker-Enfant Malades, Paris France Corresponding author: Dr Demetra Socolov Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Gr.T.Popa, Iasi, Romania. Mail : [email protected]
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/uog.13440
This article is protected by copyright. All rights reserved.
Abstract: We report a rare case of oral mass (epignathus) with completely cystic
Accepted Article
appearance, without Doppler signal, offering safe conditions for cystic punction immediately before delivery. Prenatal evacuation of cystic content reduced the risk of respiratory compromise at birth by upper airway obstruction and fetal dystocia, allowing vaginal delivery without the risk of fetal hemorrhagia. The prenatal US and MRI showed no communication between the tumor and the cranial content, excluding the diagnosis of an encephalocele. Tumoral resection was performed the day after delivery and a small cleft palate was diagnosed during the surgical intervention. The histopathologic diagnosis was: mono-dermal teratoma with mature tissues predominantly containing ectopic central nervous system components without any sign of malignancy.
Teratomas are tumors made of cells from ectodermal, mesodermal and endodermal layers. Epignathus refers to teratomas of the oro-pharingeal region .It occurs in approximately 1:35000 to 1:200.000 live births, accounting for 2-9% of teratomas [1]. Epignathus teratomas may be attached to the maxilla, mandible, palate or base of the skull and the lesion may invade the cranium and nasal or oral cavities. In some cases epignathus are associated with other malformations including cleft palate [2], abnormal mandibular structure [1], bifid tongue or nose [3] and duplication of the pituitary gland [4]. It can also protrude through the mouth causing respiratory embarrassment and death immediately after delivery. For those cases with obstruction of upper airway by epignathus, EXIT (ex-uterointrapartum treatment) procedure is aiming at allowing immediate management and freeing airways [5]. A 26 year-old nulliparous woman was referred to our tertiary unit after her mid trimester US examination, for the management of a fetal cystic image measuring 25 mm of diameter (volume 16ml), protruding through the mouth at US
This article is protected by copyright. All rights reserved.
examination (figure 1) in a female fetus. Fetal MRI at 25+4 weeks (figure 2) confirmed there was no central nervous system involvement and that deglutition
Accepted Article
was normal. Differential diagnosis included digestive duplication, giant congenital gingival granular cell tumor (congenital epulis) or lymphangioma. The couple declined fetal karyotyping. US follow up noticed a slow growth of the tumor, reaching a volume 100ml at 30 weeks. Polyhydramnios appeared from 28 weeks onwards as well as cervical shortening prompting for amniodrainage and tocolysis at 29 weeks. Steroids were also given. At 30+3 weeks, premature rupture of membranes and preterm labour occurred. Cyst puncture under ultrasound control was decided and 100ml of serous fluid content was retrieved to allow vaginal delivery. A female newborn of 1420g, APGAR=9/10/10, pH=7.24, was vaginally delivered in the presence of both ENT surgeon and neonatologist in the delivery room. Owing to cyst’ puncture, the newborn did not request intubation. She was intubated ten hours after delivery for exploratory purposes. A postnatal MRI was performed confirming that there was no brain involvement. Tumoral resection was performed the day after and a small cleft palate was diagnosed during the surgical intervention (figure 3). Microscopic examination of the tumor showed a monodermal teratoma with mature tissues predominantly containing ectopic central nervous system components without sign of malignancy. Cleft palate was repaired at 8 months of life. Follow up is normal at the age of 10 month. This epignathus teratoma is remarkable because of its complete anechoic appearance. Fetal US and MRI excluded a CNS involvement and other differential diagnosis in relation with this condition. The peculiar completely cystic appearance of the tumor, with no Doppler signal, offered safe conditions for puncture immediately prior to delivery, allowing reducing the risk of neonatal asphyxia as well as allowing a vaginal delivery without the risk of fetal hemorrhage and fetal dystocia.
This article is protected by copyright. All rights reserved.
REFERENCES 1. Vandenhaute
B, Leteurtre
E, Lecomte-Houcke
M, Pellerin
P, Nuyts
Accepted Article
JP, Cuisset JM, Soto-Ares G.Epignathus teratoma: report of three cases with a review of the literature. Cleft Palate Craniofac J. 2000 Jan;37(1):8391. 2. Hatzihaberis F, Stamatis
D, Staurinos
DJ
Giant
epignathus.Pediatr
Surg. 1978 Oct;13(6):517-8. 3. Freitas Rda S, Alonso N, Azzolini Tde F, Gianini-Romano G, Tolazzi AR, Busato L, Grande CV. Epignathus: two cases.Br J Oral Maxillofac Surg. 2008 Jun;46(4):317-9. Epub 2007 Aug 22. 4. Calvo-Garcia MA, Kline-Fath BM, Jones BB, Care MM, Koch BL.Brain malformations associated with epignathus: a clue for the correct prenatal diagnosis. Pediatr Radiol. 2009 Dec;39(12):1369-72. Epub 2009 Sep 9. 5. Levine
AB,
Alvarez
M,
Wedgwood
J,
Berkowitz
RL,
Holzman
I.Contemporary management of a potentially lethal fetal anomaly: a successful
perinatal
approach
Gynecol. 1990 Nov;76(5 Pt 2):962-6.
This article is protected by copyright. All rights reserved.
to
epignathus.Obstet
Figure 1: Prenatal US (a) and 3 D image (b) showing at 24 weeks a completely cystic lesion
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protruding from the mouth. a
b
This article is protected by copyright. All rights reserved.
Accepted Article
Figure 2: Sagittal T2w MRI image of the fetus at 25 weeks, showing the cystic teratoma without any sign of intracranial extension or bony skull defects.
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Figure 3: The newborn before surgery (a) showing an epignathus with cystic appearance and
Accepted Article
(b) after surgery showing the cleft palate. a
b
This article is protected by copyright. All rights reserved.
Accepted Article
teratoma. Benjamin Deloison*, Demetra Socolov**, Patricia Hornoy***, Gerard Couly****, Yves Ville*, Laurent J Salomon*
*Department of obstetric and fetal medicine, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital NeckerEnfant Malades, Paris France ** Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Gr.T.Popa, Iasi, Romania. *** Department of Radiology, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital Cochin-Port Royal, Paris France ****Department of maxilla-facial surgery, Unviversité Paris 5 Descartes, Sorbonne Paris-Cité, Assistance Publique Hôpitaux de Paris, Hôpital Necker-Enfant Malades, Paris France Corresponding author: Dr Demetra Socolov Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Gr.T.Popa, Iasi, Romania. Mail : [email protected]
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/uog.13440
This article is protected by copyright. All rights reserved.
Abstract: We report a rare case of oral mass (epignathus) with completely cystic
Accepted Article
appearance, without Doppler signal, offering safe conditions for cystic punction immediately before delivery. Prenatal evacuation of cystic content reduced the risk of respiratory compromise at birth by upper airway obstruction and fetal dystocia, allowing vaginal delivery without the risk of fetal hemorrhagia. The prenatal US and MRI showed no communication between the tumor and the cranial content, excluding the diagnosis of an encephalocele. Tumoral resection was performed the day after delivery and a small cleft palate was diagnosed during the surgical intervention. The histopathologic diagnosis was: mono-dermal teratoma with mature tissues predominantly containing ectopic central nervous system components without any sign of malignancy.
Teratomas are tumors made of cells from ectodermal, mesodermal and endodermal layers. Epignathus refers to teratomas of the oro-pharingeal region .It occurs in approximately 1:35000 to 1:200.000 live births, accounting for 2-9% of teratomas [1]. Epignathus teratomas may be attached to the maxilla, mandible, palate or base of the skull and the lesion may invade the cranium and nasal or oral cavities. In some cases epignathus are associated with other malformations including cleft palate [2], abnormal mandibular structure [1], bifid tongue or nose [3] and duplication of the pituitary gland [4]. It can also protrude through the mouth causing respiratory embarrassment and death immediately after delivery. For those cases with obstruction of upper airway by epignathus, EXIT (ex-uterointrapartum treatment) procedure is aiming at allowing immediate management and freeing airways [5]. A 26 year-old nulliparous woman was referred to our tertiary unit after her mid trimester US examination, for the management of a fetal cystic image measuring 25 mm of diameter (volume 16ml), protruding through the mouth at US
This article is protected by copyright. All rights reserved.
examination (figure 1) in a female fetus. Fetal MRI at 25+4 weeks (figure 2) confirmed there was no central nervous system involvement and that deglutition
Accepted Article
was normal. Differential diagnosis included digestive duplication, giant congenital gingival granular cell tumor (congenital epulis) or lymphangioma. The couple declined fetal karyotyping. US follow up noticed a slow growth of the tumor, reaching a volume 100ml at 30 weeks. Polyhydramnios appeared from 28 weeks onwards as well as cervical shortening prompting for amniodrainage and tocolysis at 29 weeks. Steroids were also given. At 30+3 weeks, premature rupture of membranes and preterm labour occurred. Cyst puncture under ultrasound control was decided and 100ml of serous fluid content was retrieved to allow vaginal delivery. A female newborn of 1420g, APGAR=9/10/10, pH=7.24, was vaginally delivered in the presence of both ENT surgeon and neonatologist in the delivery room. Owing to cyst’ puncture, the newborn did not request intubation. She was intubated ten hours after delivery for exploratory purposes. A postnatal MRI was performed confirming that there was no brain involvement. Tumoral resection was performed the day after and a small cleft palate was diagnosed during the surgical intervention (figure 3). Microscopic examination of the tumor showed a monodermal teratoma with mature tissues predominantly containing ectopic central nervous system components without sign of malignancy. Cleft palate was repaired at 8 months of life. Follow up is normal at the age of 10 month. This epignathus teratoma is remarkable because of its complete anechoic appearance. Fetal US and MRI excluded a CNS involvement and other differential diagnosis in relation with this condition. The peculiar completely cystic appearance of the tumor, with no Doppler signal, offered safe conditions for puncture immediately prior to delivery, allowing reducing the risk of neonatal asphyxia as well as allowing a vaginal delivery without the risk of fetal hemorrhage and fetal dystocia.
This article is protected by copyright. All rights reserved.
REFERENCES 1. Vandenhaute
B, Leteurtre
E, Lecomte-Houcke
M, Pellerin
P, Nuyts
Accepted Article
JP, Cuisset JM, Soto-Ares G.Epignathus teratoma: report of three cases with a review of the literature. Cleft Palate Craniofac J. 2000 Jan;37(1):8391. 2. Hatzihaberis F, Stamatis
D, Staurinos
DJ
Giant
epignathus.Pediatr
Surg. 1978 Oct;13(6):517-8. 3. Freitas Rda S, Alonso N, Azzolini Tde F, Gianini-Romano G, Tolazzi AR, Busato L, Grande CV. Epignathus: two cases.Br J Oral Maxillofac Surg. 2008 Jun;46(4):317-9. Epub 2007 Aug 22. 4. Calvo-Garcia MA, Kline-Fath BM, Jones BB, Care MM, Koch BL.Brain malformations associated with epignathus: a clue for the correct prenatal diagnosis. Pediatr Radiol. 2009 Dec;39(12):1369-72. Epub 2009 Sep 9. 5. Levine
AB,
Alvarez
M,
Wedgwood
J,
Berkowitz
RL,
Holzman
I.Contemporary management of a potentially lethal fetal anomaly: a successful
perinatal
approach
Gynecol. 1990 Nov;76(5 Pt 2):962-6.
This article is protected by copyright. All rights reserved.
to
epignathus.Obstet
Figure 1: Prenatal US (a) and 3 D image (b) showing at 24 weeks a completely cystic lesion
Accepted Article
protruding from the mouth. a
b
This article is protected by copyright. All rights reserved.
Accepted Article
Figure 2: Sagittal T2w MRI image of the fetus at 25 weeks, showing the cystic teratoma without any sign of intracranial extension or bony skull defects.
This article is protected by copyright. All rights reserved.
Figure 3: The newborn before surgery (a) showing an epignathus with cystic appearance and
Accepted Article
(b) after surgery showing the cleft palate. a
b
This article is protected by copyright. All rights reserved.
