Arch Gynecol Obstet (2010) 281:111–115 DOI 10.1007/s00404-009-1068-2
C A S E RE P O RT
Case report of fetal axillo-thoraco-abdominal cystic hygroma Shabeen Naz Masood · Muhammad Faraz Masood
Received: 9 October 2008 / Accepted: 24 March 2009 / Published online: 10 April 2009 © Springer-Verlag 2009
Abstract Cystic hygroma (moist tumor) was Wrst described in 1828 by Redenbacher. The cyst usually results owing to an absence or an ineYcient connection between the lymphatic and venous systems. Of this type of malformation 75% cases are localized in the nuchal region; however, only 20% are found in the axilla while 5% of these hygromas are in other locations. Prognosis depends on associated fetal co-morbidities. There are many case reports on cystic hygroma but only a few on the axillo-thoraco-abdominal variant. This is a case report of a huge late-onset fetal axillo-thoraco-abdominal cystic hygroma, which was diagnosed at term followed by a diYcult vaginal delivery in a 38-year-old woman. The baby did not have any congenital anomaly other than cystic hygroma with no evidence of intrathoracic or intra-abdominal extension of mass and a pelvic kidney reported on neonatal ultrasound and CT scan. The surgical excision of the cyst was done on the fourth day following birth and the histopathology report conWrmed the diagnosis. Management of fetal cystic hygroma with the use of a sclerosing agent is a new modality being explored. Risk of recurrence in subsequent pregnancies for aneu-
S. N. Masood (&) Dow University of Health Sciences, Karachi, Pakistan e-mail:
[email protected];
[email protected] S. N. Masood U-19, Hasan Apartment Extension, Hasan Square, Block-13D, Gulshan-e-Iqbal, Karachi, Pakistan M. F. Masood Department of Surgery, Detroit Medical Center, Wayne State University, 4201, St. Antoine, Detroit, MI 48201, USA e-mail:
[email protected]
ploidy is not increased. The baby has been followed up to 5 months of birth and is thriving well. Karyotype shows an XX pattern. Keywords Cystic hygroma · Axillo-thoraco-abdominal cystic hygroma
Introduction DeWnition Cystic hygroma CH (moist tumor) was Wrst described in 1828 by Redenbacher. The cyst usually results owing to an absence or an ineYcient connection between the lymphatic and venous systems. Description of abnormality Cystic hygroma is the anomaly of the lymphatic system characterized by single or multiple cysts ranging in size from several millimeters to 80 mm, within the soft tissue, usually involving the neck. It contains a clear or cloudy Xuid like lymph. Prognosis depends on associated fetal co-morbidities. ClassiWcation: Landing and Farber’s (1956) • Lymphangioma simplex-composed of thin walled lymphatic channels. • Cystic lymphangioma-composed of endothelium lined cysts of varying sizes. e.g. CH. • Cavernous lymphangioma-composed of dilated lymphatics with increased Wbrous tissue. When diagnosed by prenatal ultrasound, lymphatic malformations are frequently associated with chromosomal anomalies.
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Usual sites include neck, cheek, axilla, groin, mediastinum and the retroperitoneum. The majority of lymphatic malformations in the neck occur in the posterior triangle. Those in the anterior triangle are often associated with intraoral lymphangioma and are the ones likely to produce airway compromise. Mediastinal extension is noted in only 10% of cases. These swellings are softly cystic, partially compressible (as they are multiloculated) and brilliantly translucent (unless intracystic hemorrhage has occurred) [1]. Case description Mrs. N.S., a 38-year-old, gravida 2, para 1 + 0, attended the outpatient department of the hospital for the Wrst time at 40 weeks of gestation. She had her last delivery 7 years back and it was from a diVerent paternity. Her blood group was B negative and that of her spouse was A positive. No anti-D was given in previous pregnancy. She was carrying a number of ultrasound scans which were done at diVerent periods of gestation. None of the previous ultrasounds reported any congenital anomaly except for the last one that was done at about 38 weeks of gestation, which showed a large cystic mass measuring 140 £ 110 mm, extending from the scapula to the lumbosacral region. It was arising from the left side of the fetal chest wall. It had septations and dense homogeneous echoes. The scan showed a single viable fetus corresponding to gestational age of 38 § 1 weeks. Other fetal sonographic biometric indices were normal, and there was no associated fetal congenital anomaly. A Doppler scan showed no vascularity in the mass. A provisional diagnosis of cystic hygroma (CH) was made (Fig. 1).
Fig. 1 Sonographic image showing large cystic mass with septations and dense homogeneous echoes arising from fetal chest wall
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She was counseled for a caesarean section in view of the large fetal thoraco-abdominal mass. However, she refused the surgery and insisted on a vaginal birth. The labor progressed normally, but after the delivery of head; the fetal body was delivered with diYculty. The Apgar score of the baby was 8/10. On neonatal examination, the abdominal mass extended from the axilla up to the left lower edge of the iliac crest. No other obvious congenital anomaly was detected. The baby’s blood group was also B negative (Fig. 2a, b). The ultrasound of the newborn did not reveal any additional abnormality in the chest, abdomen or pelvic viscera. The neonate was referred to the pediatric surgery department the next day. The CT of the baby was done at the age of 2 days. The axial images after contrast showed a large cystic mass, along left lateral chest wall up to the middle of the abdominal wall with thin internal septations. There was no evidence of intrathoracic or intraabdominal extension of mass or consolidation in either lung, mediastinal lymphadenopathy or plural eVusion. Liver and spleen were normal. Left kidney was pelvic in location and normal urinary bladder (Fig. 3a, b). The surgery was planned on the fourth day after the birth by the pediatric surgical team. A longitudinal incision was made over the swelling; 300 cc of lymphatic Xuid was aspirated, skin Xaps were raised anteriorly and posteriorly. The tumor was excised from the chest and abdominal wall. Homeostasis was secured. Redundant skin Xaps were excised. A Redivac drain was placed and the wound was closed. During the procedure 60 cc of fresh frozen plasma (FFP) was transfused. The baby recovered well and the sutures were removed on the seventh postoperative day. Histopathology report showed features compatible with lymphangioma and a karyotype examination was an XX pattern (Fig. 4a, b).
Fig. 2 a The mass extending from the left axilla up to the lower edge of the ipsilateral iliac crest. b Left lateral view of the mass
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Fig. 4 a On 10th Postoperative day. b 148 days after birth
Fig. 3 a CT scan axial image after contrast. b CT scan axial image after contrast, showing large cystic mass
Discussion Prevalence of fetal axillary CH has been reported rarely [2] and according to US statistics the frequency is 1 case per 6,000 births. Of this type of malformation 75% cases are localized in the nuchal region; however, only 20% are found in the axilla while 5% of these hygromas are in other locations [3]. CH is present at birth in 50% of cases and 90% appear by 2 years of age [4]; the incidence of CH is equal in both the sexes except for inguinal hygromas which are Wve times more common in males [1]. There are many papers on cystic hygroma but only a few on the axillo-thoraco-abdominal variant. CH is benign in nature and it is most frequently
found in the neck. The lymphatic channels are formed in the sixth week of intrauterine life which later communicates with the venous system. Failure to establish venous drainage results in dilated disorganized lymph channels, which in the largest form presents as CH [5]. Persistent non-communication between the lymphatic and venous systems may result in progressive peripheral lymphedema and hydrops foetalis that may lead to early intrauterine death [6]. CH tends to form in loose areolar tissue, whereas capillary and cavernous forms of lymphangiomas tend to form in muscle. Studies using cell proliferation markers have revealed that enlargement of the lymphangioma is actually more of engorgement rather than actual cell proliferation. Molecular studies suggest that the vascular endothelial growth factor C (VEGF-C) and its receptors may play an important role in the development of lymphatic malformations. When CH is diagnosed in the antenatal period, amniocentesis or karyotype examination is recommended along with serial ultrasound examinations. Sonographically a
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volume of CH ¸ 75 mm, revealed a sensitivity of 66.7% and 72.7% for the identiWcation of abnormal fetal karyotype and persistent CH, respectively [7]. It is also a useful prognostic indicator in determining the risk of associated fetal karyotypic abnormalities mainly Turner’s syndrome [8]. A series of 57 cystic hygroma cases were diagnosed in the Wrst and second trimester of pregnancy by means of ultrasonographic morphology of CH, associated structural abnormalities, karyotype analysis and the autopsy Wndings. Survivors were followed for their fetal outcome and prognosis. It was concluded that fetuses with CH were at high risk for adverse outcome. Prenatal diagnosis with invasive procedures should be done in order to inform the parents in detail [9]. Although fetal CH is best diagnosed by ultrasound, in midtrimester of pregnancy, [10–12] but at times it can be mistaken for pockets of amniotic Xuid around the fetal head and neck [13]. The use of magnetic resonance imaging (MRI) during the third trimester is a valuable tool in the imaging and diVerential diagnosis of this type of malformation. It is also used to evaluate the extent and the tissue characteristics of the lesion [14]. Prognosis depends on associated fetal comorbidities, for example, hydrops fetalis or chromosomal or anatomic defects. The prognosis for axillary form of CH is variable [15]. Fetuses with septated CH are more commonly associated with Turner’s syndrome; they are likely to develop hydrops and hence have a poor prognosis whereas fetuses with non-septated CH are usually associated with Down’s syndrome and have a better prognosis. Axiliary location of the hygroma and the depth of invasion had prognostic importance [9]. Other associations include congenital glaucoma, Klippel-Trenaunay syndrome, lymphangiogenic macroglossia and diaphragmatic hernia (Freyn’s syndrome) [1]. Obstetrical management Delivery must be conducted in a place where the facilities for emergency neonatal resuscitative services are available. An opinion regarding neonatal outcome should be discussed with pediatrician. If there is a small isolated CH, no modiWcation of standard obstetrical management is required. When large lesions are present, a cesarean section may be advisable. Large CH can lead to obstructed labor and neonatal morbidity. Antenatal counseling of the parents about the necessity of possible need for karyotyping, elective operative delivery and pregnancy outcome is mandatory. However in case of Mrs. N.S., although the size of the fetal CH was huge (140 £ 110 mm), the diagnosis was considerably delayed. It could be because of the late onset of malformation or it was a sonographically missed case [16, 17].
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Vaginal birth was opted due to strong maternal request. Although there was dystocia during birth of the fetal body, no major perineal traumatic lacerations were identiWed on the mother, may be because of the soft compressible nature of the fetal CH. The pediatric team decided to undertake the surgery on the fourth day following birth in view of the huge size of the axillo-thoraco-abdominal CH. Surgical procedure and postoperative recovery of the baby was uneventful. The neonate is thriving well after 7 months of surgery. Treatment A CH rarely goes away on its own. Aspiration by puncturing with a needle is usually followed by prompt re-accumulation of Xuid or development of infection. Injection of chemical agents to cause shrinkage is eVective in certain hygromas where there are large cysts, but is not as eVective when there are very small cysts. This is not without potential complications, and as yet there is no universal agent available that is totally safe. When infection occurs, it is necessary for the child to be treated with antibiotics. Yet, deWnitive treatment may rest in surgical removal once the infection is controlled. Most pediatric surgeons defer surgery until approximately 6 months of age if the rate of enlargement does not exceed general body growth. Complete removal is challenging and recurrence may be 5 or 10%, even in favorable cases. Although all eVorts are made to remove remnants of the cyst, because it is non-cancerous no major nerves or other important structures should be removed when removing the cysts. (O’Neill: Principles of Pediatric Surgery. © 2003, Elsevier). Management of fetal CH with the use of sclerosing agent is a new modality being explored [18]. In 1986 Ogita et al. [19] found that preoperatively, neonatal injection of sclerosing agents like Bleomycin and OK-432 [19] (a low virulence group-A Streptococcus pyogenes cultured with penicillin) resulted in shrinkage of lymphangioma. Recurrence risk The risk of recurrence in subsequent pregnancies for aneuploidy is not increased. An extensive review of the medical literature revealed only two cases of recurrence in the absence of a known syndrome with normal fetal karyotypes [20, 21].
Conclusion Antenatal diagnosis of fetal CH can be of help in planning a better anticipatory care. Timely sonographic diagnosis of
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associated congenital anomalies and soft tissue markers for chromosomal abnormalities can be undertaken. Pediatric and genetics opinion about the possible fetal outcome and neonatal management can better prepare medical staV and the family to cope with the future management of the neonate. Couple can also be counseled for an elective Cesarean section and/or possibility of transfer in utero or delivery in a center which is well equipped for neonatology care. Interestingly, a recent report describes the intra-uterine management of foetal CH using injection of OK-432 [18]. Acknowledgments Dr. Shabbir Hussain, MBBS, FRCS, Pediatric Surgeon Liaquat National Hospital, Karachi Pakistan. Mr. Syed Imran Shah, Data Entry Operator, Department of Information Technology, Dow University of Health Sciences, Karachi Pakistan. ConXict of interest statement
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