Bilateral Fetal Hexadactyly Combined with Transient Dacryocystocele Fetale Hexadaktylie kombiniert mit einer transienten Dakryozystozele Introduction !
Fetal polydactyly/hexadactyly, a supernumerary or rudimentary finger present on one or either fetal hands or feet, could be a sign of an underlying chromosomal aberration like trisomy 18 or 13, so in cases when hexadactyly is detected prenatal karyotyping is recommended. A supernumerary finger could be located on either side of the hand (radial or ulnar) or somewhere in between. Furthermore, it is also part of other malformation syndromes, like Meckel-Gruber or Ellis-vanCreveld syndrome. However, hexadactyly could be an isolated anomaly found prenatally in fetuses with a normal karyotype and with no other additional anomalies, and is even inheritable in some families. The manner of postnatal treatment of hexadactyly depends on how developed this supernumerary finger is. Dacryocystocele is a rare condition that could be detected prenatally mostly during the third trimester of gestation. It is a fluid-filled structure caused by obstruction of the lacrimal drainage system and could be easily visualized by 2 D ultrasound as an anechoic cystic structure positioned inferior and medial to the orbit. Three-dimensional (3 D) multiplanar and surface views facilitate prenatal diagnosis. In many cases dacryocystocele resolves spontaneously, even prenatally, but mostly in the early neonatal period (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73 and Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230).
aminations were performed using a Voluson E8 sonographic device (GE, USA) and electronic three-dimensional transvaginal and transabdominal volume transducers. The ultrasound examination obtained in the first trimester revealed normal fetal growth and development. Nuchal translucency of 1 mm was measured at 12 weeks of gestation and first trimester screening test showed low risk of trisomy 21, 18 and 13. During a routine ultrasound examination at 18 weeks of gestation a female fetus with normal growth and behavior was found sonographically, while ulnar hexadactyly was detected on both " Fig. 1a, fetal hands (● b), additionally with bilaterally present choroid plexus
Fig. 1 Abb. 1
cysts, and discrete bilateral renal pyelectasis of 2.5 mm. The patient was referred to the hospital for amniocentesis, and prenatal karyotyping revealed normal female karyotype (46, XX.). Fetal echocardiography showed regular fetal heart morphology. During the examination at 29 weeks of gestation, a round anechoic cystic structure of 8.1 x 4.7 mm was found medial and " Fig. 2a). inferior to the left fetal orbit (● There was no blood flow inside or around the cyst. A small bump below the left fetal eye was clearly visible using 3 D surface " Fig. 2b). At that time there were view (● no more sonographic signs of renal pyelectasis or choroid plexus cysts. The patient was referred to magnetic resonance imaging (MRI) that confirmed the presence of the cystic structure of 12 mm in diameter, slightly pressing the left eye bulbous la" Fig. 3). Sonography terally and cranially (● and MRI revealed normal fetal brain anatomy. Due to the sonographic finding and MR imaging, a diagnosis on fetal dacryocystocele was made. The cyst was still present on control examination at 32 weeks of gestation, but the last ultrasound examination obtained a few weeks prior
a, b Fetal hexadactyly found during routine 2 D ultrasound examination. a, b Fetale Hexadaktylie, bei einer routinemäßigen 2D-Ultraschalluntersuchung entdeckt.
Case report !
A 27-year-old gravida 2 underwent pregnancy follow-up at a private gynecologic practice. In her first pregnancy Cesarean section was performed at term due to bridge presentation, oligohydramnios and suspected intrauterine growth retardation, and a healthy female newborn of 2700 g and 47 cm was delivered. During this second pregnancy all sonographic ex-
Fig. 2 a Round cystic anechoic structure of 8.1 × 4.7 mm, positioned inferior and medial to the left fetal orbit. b Small bump below the left fetal eye was also visible prenatally using 3 D surface view. Abb. 2 a Runde zystische echofreie Struktur von 8,1 × 4,7 mm Größe, die sich inferior und medial zur linken fetalen Orbita befindet. b Eine kleine Beule unterhalb des linken fetalen Auges war ebenfalls pränatal mittels 3D-Oberflächendarstellung zu erkennen.
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
517
Downloaded by: University of Florida. Copyrighted material.
Case Report
Case Report
Fig. 4 a Ulnar hexadactyly – prenatally obtained 3 D surface view of the fetal hand showing a small rudimentary sixth finger located on the fifth fetal finger. b Neonatal hand – rudimentary sixth finger is clearly visible. Fig. 3 Fetal MRI presents a cystic structure slightly pressing the left eye bulbous laterally and cranially.
Abb. 4 a Ulnare Hexadaktylie – die pränatal gewonnene 3D-Oberflächendarstellung der fetalen Hand zeigt einen kleinen rudimentären sechsten Finger, der sich am fünften fetalen Finger befindet. b Hand des Neugeborenen – der rudimentäre sechste Finger ist deutlich sichtbar.
Abb. 3 Das fetale MRT zeigt eine zystische Struktur, die den linken Augapfel leicht lateral und kranial drückt.
to birth showed no more sonographic sign of fetal dacryocystocele. A female newborn, weight 3500 g and length 50 cm, was delivered vaginally at term. There was also no visible external sign of dacryocystocele on the newborn’s face and sonography revealed normal neonatal brain anatomy. A rudimentary sixth finger was present on the ulnar side on both newborn’s hands, positioned as a pendant on " Fig. 4a, b). The newborn the fifth finger (● baby was released from the hospital as a healthy child on the third day. The child’s further development was normal, and the rudimentary fingers were surgically removed a few weeks after birth.
Discussion !
Dacryocystocele is a diagnosis that is usually established by ophthalmologists but obstetricians can also deal with this condition prenatally. The lacrimal drainage system begins to develop around the 6th week of gestation, while the canalization of the nasolacrimal pathway begins at 12 weeks and is complete by eight months of pregnancy. The main cause of congenital dacryocystocele is atresia of the Hasner valve. The Hasner valve is located at the distal end of the nasolacrimal duct. Hasner valve atresia represents a persistence of the thin membrane between the nasolacrimal duct and nasal cavity enabling accumulation of fluid within the lacrimal sac. Another valve positioned proximally – the Rosenmüller valve – normally prevents reflux of the
fluid from the lacrimal sac to the canaliculi. This normal mechanism additionally contributes to further distension of the lacrimal sac, forming dacryocystocele in cases with Hasner valve atresia. Spontaneous disruption of the membrane results in spontaneous resolution of dacryocystocele (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). Dacryocystocele is a rare benign condition that could be sonographically detected prenatally in the third trimester of gestation. It is an anechoic unilateral structure positioned inferior and medial to the orbit with no blood flow inside or around the structure. Bilateral occurrence is also possible. Female preponderance is reported in the literature (Cavazza S et al. Acta Otorhinolaryngol Ital 2008; 28: 298 – 301). Ultrasound can be used to prenatally distinguish dacryocystocele from other pathological conditions like encephalocele, meningoencephalocele, teratoma, capillary hemangioma, dermoid cyst, lymphangioma, etc. Magnetic resonance imaging is very useful in cases of doubt in order to resolve diagnostic problems (Schlenck B et al. Ultraschall in Med 2002; 23: 181 – 184). Although known as an isolated sonographic finding, dacryocystocele could also be combined with anomalies of the fetal face, limbs, genitalia and kidneys. It may be part of a congenital syndrome that sometimes may not be identified before birth, as reported by Sharony et al. and Espirito Santo and associates (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73. and Espirito Santo RO et al. Ophthal Plast Reconstr Surg 2012; 20: 1 – 2). Studying fetuses with dacryocystocele, Sepulveda and co-workers reported a patient whose previous child
had congenital dacryocystocele and fetal dacryocystocele was also prenatally found in the next pregnancy (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). In most cases dacryocystocele resolves spontaneously in the early neonatal period, but prenatal spontaneous resolution, as in our case, is also reported in the literature (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). However, in cases when postnatal management is needed, conservative treatment includes digital massage and topical antibiotic treatment. In most severe cases and those complicated by, for example, dacryocystitis, cellulitis or respiratory difficulties, intravenous antibiotic treatment combined with surgical treatment is recommended (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73. and Cavazza S et al. Acta Otorhinolaryngol Ital 2008; 28: 298 – 301). In our case, transient fetal dacryocystocele was an additional finding in a fetus in which ulnar hexadactyly on both hands had already been detected sonographically. As prenatal karyotyping revealed a normal female karyotype and no other anomalies that could be connected to the known malformation syndromes were additionally found, the appearance of an anechoic cystic structure inferior and medial to the fetal orbit during the third trimester of gestation was a bit unexpected. According to the sonographic finding and the time of its appearance, diagnosis of dacryocystocele was made. Keeping already existing bilateral hexadactyly in mind, the patient was referred to MRI in order to confirm the diagnosis of dacryocystocele and to exclude other conditions that differentially have to be considered.
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
Downloaded by: University of Florida. Copyrighted material.
518
Case Report
Searching the literature showed that there is no publication reporting combined fetal hexadactyly and dacryocystocele detected prenatally. It could be concluded that in this case bilateral ulnar hexadactyly and transient unilateral dacryocystocele were separate findings with no link. Although hexadactyly and dacryocystocele are minor anomalies that can be subsequently
treated without consequences, other fetal anomalies, malformation syndromes and an underlying chromosomal aberration have to be excluded in cases when these anomalies are recognized prenatally. D. Miric Tesanic, D. Habek, M. Stanojevic, R. Padovan-Štern, Zagreb, Croatia
Downloaded by: University of Florida. Copyrighted material.
Prenatal diagnostic techniques – conventional 2 D ultrasound combined with color Doppler, 3 D multiplanar and surface views and MRI are very useful in establishing prenatal diagnosis of dacryocystocele but also for distinguishing it from the other anomalies that have to be differentially excluded in such cases.
519
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
Fetal polydactyly/hexadactyly, a supernumerary or rudimentary finger present on one or either fetal hands or feet, could be a sign of an underlying chromosomal aberration like trisomy 18 or 13, so in cases when hexadactyly is detected prenatal karyotyping is recommended. A supernumerary finger could be located on either side of the hand (radial or ulnar) or somewhere in between. Furthermore, it is also part of other malformation syndromes, like Meckel-Gruber or Ellis-vanCreveld syndrome. However, hexadactyly could be an isolated anomaly found prenatally in fetuses with a normal karyotype and with no other additional anomalies, and is even inheritable in some families. The manner of postnatal treatment of hexadactyly depends on how developed this supernumerary finger is. Dacryocystocele is a rare condition that could be detected prenatally mostly during the third trimester of gestation. It is a fluid-filled structure caused by obstruction of the lacrimal drainage system and could be easily visualized by 2 D ultrasound as an anechoic cystic structure positioned inferior and medial to the orbit. Three-dimensional (3 D) multiplanar and surface views facilitate prenatal diagnosis. In many cases dacryocystocele resolves spontaneously, even prenatally, but mostly in the early neonatal period (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73 and Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230).
aminations were performed using a Voluson E8 sonographic device (GE, USA) and electronic three-dimensional transvaginal and transabdominal volume transducers. The ultrasound examination obtained in the first trimester revealed normal fetal growth and development. Nuchal translucency of 1 mm was measured at 12 weeks of gestation and first trimester screening test showed low risk of trisomy 21, 18 and 13. During a routine ultrasound examination at 18 weeks of gestation a female fetus with normal growth and behavior was found sonographically, while ulnar hexadactyly was detected on both " Fig. 1a, fetal hands (● b), additionally with bilaterally present choroid plexus
Fig. 1 Abb. 1
cysts, and discrete bilateral renal pyelectasis of 2.5 mm. The patient was referred to the hospital for amniocentesis, and prenatal karyotyping revealed normal female karyotype (46, XX.). Fetal echocardiography showed regular fetal heart morphology. During the examination at 29 weeks of gestation, a round anechoic cystic structure of 8.1 x 4.7 mm was found medial and " Fig. 2a). inferior to the left fetal orbit (● There was no blood flow inside or around the cyst. A small bump below the left fetal eye was clearly visible using 3 D surface " Fig. 2b). At that time there were view (● no more sonographic signs of renal pyelectasis or choroid plexus cysts. The patient was referred to magnetic resonance imaging (MRI) that confirmed the presence of the cystic structure of 12 mm in diameter, slightly pressing the left eye bulbous la" Fig. 3). Sonography terally and cranially (● and MRI revealed normal fetal brain anatomy. Due to the sonographic finding and MR imaging, a diagnosis on fetal dacryocystocele was made. The cyst was still present on control examination at 32 weeks of gestation, but the last ultrasound examination obtained a few weeks prior
a, b Fetal hexadactyly found during routine 2 D ultrasound examination. a, b Fetale Hexadaktylie, bei einer routinemäßigen 2D-Ultraschalluntersuchung entdeckt.
Case report !
A 27-year-old gravida 2 underwent pregnancy follow-up at a private gynecologic practice. In her first pregnancy Cesarean section was performed at term due to bridge presentation, oligohydramnios and suspected intrauterine growth retardation, and a healthy female newborn of 2700 g and 47 cm was delivered. During this second pregnancy all sonographic ex-
Fig. 2 a Round cystic anechoic structure of 8.1 × 4.7 mm, positioned inferior and medial to the left fetal orbit. b Small bump below the left fetal eye was also visible prenatally using 3 D surface view. Abb. 2 a Runde zystische echofreie Struktur von 8,1 × 4,7 mm Größe, die sich inferior und medial zur linken fetalen Orbita befindet. b Eine kleine Beule unterhalb des linken fetalen Auges war ebenfalls pränatal mittels 3D-Oberflächendarstellung zu erkennen.
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
517
Downloaded by: University of Florida. Copyrighted material.
Case Report
Case Report
Fig. 4 a Ulnar hexadactyly – prenatally obtained 3 D surface view of the fetal hand showing a small rudimentary sixth finger located on the fifth fetal finger. b Neonatal hand – rudimentary sixth finger is clearly visible. Fig. 3 Fetal MRI presents a cystic structure slightly pressing the left eye bulbous laterally and cranially.
Abb. 4 a Ulnare Hexadaktylie – die pränatal gewonnene 3D-Oberflächendarstellung der fetalen Hand zeigt einen kleinen rudimentären sechsten Finger, der sich am fünften fetalen Finger befindet. b Hand des Neugeborenen – der rudimentäre sechste Finger ist deutlich sichtbar.
Abb. 3 Das fetale MRT zeigt eine zystische Struktur, die den linken Augapfel leicht lateral und kranial drückt.
to birth showed no more sonographic sign of fetal dacryocystocele. A female newborn, weight 3500 g and length 50 cm, was delivered vaginally at term. There was also no visible external sign of dacryocystocele on the newborn’s face and sonography revealed normal neonatal brain anatomy. A rudimentary sixth finger was present on the ulnar side on both newborn’s hands, positioned as a pendant on " Fig. 4a, b). The newborn the fifth finger (● baby was released from the hospital as a healthy child on the third day. The child’s further development was normal, and the rudimentary fingers were surgically removed a few weeks after birth.
Discussion !
Dacryocystocele is a diagnosis that is usually established by ophthalmologists but obstetricians can also deal with this condition prenatally. The lacrimal drainage system begins to develop around the 6th week of gestation, while the canalization of the nasolacrimal pathway begins at 12 weeks and is complete by eight months of pregnancy. The main cause of congenital dacryocystocele is atresia of the Hasner valve. The Hasner valve is located at the distal end of the nasolacrimal duct. Hasner valve atresia represents a persistence of the thin membrane between the nasolacrimal duct and nasal cavity enabling accumulation of fluid within the lacrimal sac. Another valve positioned proximally – the Rosenmüller valve – normally prevents reflux of the
fluid from the lacrimal sac to the canaliculi. This normal mechanism additionally contributes to further distension of the lacrimal sac, forming dacryocystocele in cases with Hasner valve atresia. Spontaneous disruption of the membrane results in spontaneous resolution of dacryocystocele (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). Dacryocystocele is a rare benign condition that could be sonographically detected prenatally in the third trimester of gestation. It is an anechoic unilateral structure positioned inferior and medial to the orbit with no blood flow inside or around the structure. Bilateral occurrence is also possible. Female preponderance is reported in the literature (Cavazza S et al. Acta Otorhinolaryngol Ital 2008; 28: 298 – 301). Ultrasound can be used to prenatally distinguish dacryocystocele from other pathological conditions like encephalocele, meningoencephalocele, teratoma, capillary hemangioma, dermoid cyst, lymphangioma, etc. Magnetic resonance imaging is very useful in cases of doubt in order to resolve diagnostic problems (Schlenck B et al. Ultraschall in Med 2002; 23: 181 – 184). Although known as an isolated sonographic finding, dacryocystocele could also be combined with anomalies of the fetal face, limbs, genitalia and kidneys. It may be part of a congenital syndrome that sometimes may not be identified before birth, as reported by Sharony et al. and Espirito Santo and associates (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73. and Espirito Santo RO et al. Ophthal Plast Reconstr Surg 2012; 20: 1 – 2). Studying fetuses with dacryocystocele, Sepulveda and co-workers reported a patient whose previous child
had congenital dacryocystocele and fetal dacryocystocele was also prenatally found in the next pregnancy (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). In most cases dacryocystocele resolves spontaneously in the early neonatal period, but prenatal spontaneous resolution, as in our case, is also reported in the literature (Sepulveda W et al. J Ultrasound Med 2005; 24: 225 – 230). However, in cases when postnatal management is needed, conservative treatment includes digital massage and topical antibiotic treatment. In most severe cases and those complicated by, for example, dacryocystitis, cellulitis or respiratory difficulties, intravenous antibiotic treatment combined with surgical treatment is recommended (Sharony R et al. Ultrasound Obstet Gynecol 1999; 14: 71 – 73. and Cavazza S et al. Acta Otorhinolaryngol Ital 2008; 28: 298 – 301). In our case, transient fetal dacryocystocele was an additional finding in a fetus in which ulnar hexadactyly on both hands had already been detected sonographically. As prenatal karyotyping revealed a normal female karyotype and no other anomalies that could be connected to the known malformation syndromes were additionally found, the appearance of an anechoic cystic structure inferior and medial to the fetal orbit during the third trimester of gestation was a bit unexpected. According to the sonographic finding and the time of its appearance, diagnosis of dacryocystocele was made. Keeping already existing bilateral hexadactyly in mind, the patient was referred to MRI in order to confirm the diagnosis of dacryocystocele and to exclude other conditions that differentially have to be considered.
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
Downloaded by: University of Florida. Copyrighted material.
518
Case Report
Searching the literature showed that there is no publication reporting combined fetal hexadactyly and dacryocystocele detected prenatally. It could be concluded that in this case bilateral ulnar hexadactyly and transient unilateral dacryocystocele were separate findings with no link. Although hexadactyly and dacryocystocele are minor anomalies that can be subsequently
treated without consequences, other fetal anomalies, malformation syndromes and an underlying chromosomal aberration have to be excluded in cases when these anomalies are recognized prenatally. D. Miric Tesanic, D. Habek, M. Stanojevic, R. Padovan-Štern, Zagreb, Croatia
Downloaded by: University of Florida. Copyrighted material.
Prenatal diagnostic techniques – conventional 2 D ultrasound combined with color Doppler, 3 D multiplanar and surface views and MRI are very useful in establishing prenatal diagnosis of dacryocystocele but also for distinguishing it from the other anomalies that have to be differentially excluded in such cases.
519
Miric Tesanic D et al. Bilateral Fetal Hexadactyly … Ultraschall in Med 2015; 36: 517–519 · DOI http://dx.doi.org/10.1055/s-0034-1398845
