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Journal of Neonatal-Perinatal Medicine 7 (2014) 81–84 DOI 10.3233/NPM-1474713 IOS Press

Case Report

Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation R.N. Haricharana , M. Nawazb , M. Bettollia and E. Ferrettib,∗ a Division of Pediatric Surgery, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada b Division

of Neonatology, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada

Received 11 September 2013 Revised 13 December 2013 Accepted 8 January 2014

Abstract. Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations. Keywords: Fetal, craniocervical, lymphatic malformation, neonatal, lymphangioma, bleeding prenatal, ultrasound

1. Introduction Lymphatic malformations (LMs) are abnormalities of the lymphatic vessels network that runs parallel to the blood vessels, and are responsible for draining the excess of extracellular fluid from tissues to the bloodstream. These are not very common and account for 4% of all vascular tumors in children. Sixty percent of LMs are detected at birth and by the end of 2nd year of life, 80 to 90% are identified [1, 2]. The majority of them involve the head and neck [3] and their etiology ∗ Corresponding

author: Dr. E. Ferretti, Children’s Hospital of Eastern Ontario and The Ottawa General Hospital, University of Ottawa, Ottawa, ON, K1H 8L6, Canada. Tel.: +1 613 737 7600; Ext. 2461; Fax: +1 613 737 8889; E-mail: [email protected].

is controversial. Several theories exist describing these lesions as true neoplasms, hamartomas, or congenital dysplasias of the lymphatics [4, 5]. The direct cause of lymphatic malformation is a blockage of the lymphatic system as the fetus develops. This blockage is thought to be caused by a number of factors, including maternal alcohol use and viral infections during pregnancy. The reason for the embryonic lymph sacs remaining disconnected from the rest of the lymphatic system is not known. Congenital LMs are often associated with chromosomal abnormalities (Turner syndrome, Noonan syndrome, trisomies 13, 18 and 21) [5], although they can also exist in isolation. These malformations are either congenital or acquired. They are commonly diagnosed using fetal ultrasonography.

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The lymphatic system develops concurrently with the venous system and is therefore often associated with venous low–flow vascular malformations. In children, it is not unusual for these ‘combined’ lesions to bleed secondary to trauma [6]. We discuss an unusual presentation of a cervical LM in a newborn. In our case of prenatally diagnosed large fetal neck mass with features of LM, spontaneous intralesional hemorrhage prior to birth led to challenges in diagnosis and management.

2. Case report During the second trimester of an otherwise uneventful pregnancy in a 39 year old mother, a fetal ultrasound (US) disclosed a left latero-posterior neck mass (3 × 4 cm). No other fetal anomaly was seen and no aneuploidy markers were detected on integrated prenatal screening which was negative. Amniocentesis showed normal 46 XX female karyotype. Fetal MRI done at 21 weeks gestational age demonstrated a larger mass. The mass was cystic, avascular, and had no obvious solid components; the differential diagnosis included LM vs. teratoma. There was no displacement of the airways or facial structures. Follow-up US revealed a growing mass. The fetal growth and biophysical profile were confirmed to be normal. Elective C-section was planned after completion of 38 weeks of gestation because of the mass. A female baby was delivered with Apgar scores of 8 and 9 at 1 and 5 minutes respectively. Birth weight was 3531 grams. Her airway was not compromised and the physical examination was unremarkable except for the left neck mass on the lateral aspect overlying the posterior triangle, with both infra- and supra-hyoid components (Stage 3) [7], extending from the mastoid to the clavicle. The mass was soft on palpation with a small opening (Fig. 1) from which thick, dark green discharge was noted. The range of motion of the left shoulder was limited with flexion and abduction to 90 degrees only. A neck US revealed an echogenic mass with calcifications. A subsequent MRI confirmed complex mass with cystic and solid components distorting the subclavian vessels and carotid vessels, but without fat enhancement (Fig. 2) or calcifications. The laboratory investigations were completed with an alpha fetoprotein (13454 mcg/L; ref. 1000–

Fig. 1. Left posterior neck mass with an ulcer-like opening in the center.

100000 mcg/L) and ␤hCG (4 IU/L; ref. 0–5 IU/L). Based on the labs, the US, and the MRI reports it was concluded that the mass was most likely an atypical presentation of a LM. Due to the increasing size and that malignancy (i.e. teratoma) could not be excluded, resection was favored. The surgical plan was to perform an extensive versus a functional resection depending on the intra-operative frozen section. On day of life 9, the infant was taken to the operating room. During surgery extensive mobilization was carried out by carefully preserving the neurovascular structures whenever possible, aided by intraoperative nerve stimulator. Due to the size of the mass, the overlying muscles (sternocleidomastoid and trapezius) were attenuated, making it hard to identify neurovascular structures. Once inside the lesion, some greenish material was seen filling up one of the multiple lobulations. Intraoperative frozen section confirmed the lesion to be a LM. Therefore a decision was made to preserve the posterior wall of the lesion that was in close proximity with the spinal accessory nerve and the brachial plexus. Closed suction drains were placed. Pathology report confirmed LM with secondary hemorrhage and reactive fibrosis with no arterial or venous malformations to account for the bleed. Her postoperative recovery was uneventful, with normal range of motion of head and neck at discharge (7th post-operative day). Further follow-up with ultrasound of the neck at regular intervals (every 6 months for at least 2 years as recommended) [8] was planned. At the last follow-up (11 months old) there was no evidence of residual or recurrent mass on ultrasound, or neuromotor deficits.

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Fig. 2. MRI of the mass (asterisk). Coronal Fast Spin Echo IR (A) and Coronal T1 weighted (B) images show the complex nature of the mass with heterogeneous, hyper intense signal. The signal was not suppressed on the fat saturation sequences (not shown).

3. Discussion In 1828, Redenbacher first described a lymphangioma lesion and in 1843, Wernher gave the first case report of a cystic hygroma [1, 9]. The name is derived from Greek, hygros, moist or wet and -oma swelling. Since then, the nomenclature of these lesions has also evolved as more information on the etiopathogenesis has become available. The current, widely accepted terminology is ‘lymphatic malformation’ (LM), instead of lymphangioma. Since the landmark paper by Mulliken and Glowacki in 1982 [10], the classification of vascular malformations has been simplified. LMs are usually slow-flow lesions that can be simple or combined with other vascular malformations [11]. They may also be classified into microcystic, macrocystic, and mixed subtypes. Microcystic are composed of cysts, each of which measures less than 2 cm3 in volume, macrocystic contain cysts measuring more than 2 cm3 in volume. Mixed type contains both microcystic and macrocystic components. In a typical case of neonatal LM, the skin covering the lesion appears stretched without any discoloration or change in skin temperature. On palpation the lesion may fluctuate, however the margins of the lesion are hardly detectable. The lesions are not tender or painful unless infected [3, 11]. They vary in size and grow progressively, relative to the development of the child. Accelerated growth or pain, or both may

indicate infection. Unlike hemangiomas, which tend to involute within a few years of life [12], LMs do not involute over time. In our case, the presentation was not classic for a LM. On inspection, there was redundant normal skin overlying the lesion along with an open wound (1 × 1 cm) with dark green discharge, thus making the clinical diagnosis challenging. The findings prompted a multidisciplinary meeting that favored resection as the treatment plan since malignancy could not be completely ruled out. The most common methods of treatment of LMs are active observation, surgical resection, sclerotherapy or a combination of these [13–15]. Smaller, asymptomatic lesions can be treated with expectant management [1]. Surgical resection is mainly indicated for microcystic lesions. These are very difficult to resect, because there are no distinct tissue planes and they tend to interdigitate between normal structures. Recurrence is common, and has been reported up to 80% in the patients younger than 1 year, who had resection of a microcystic LM [1]. The commonly used sclerosing agents are pure ethanol, sodium tetradecyl sulfate, doxycyline and OK432. OK-432 has been very successful as first line treatment for macrocystic lymphangiomas, with success approaching 100% regression in selected cases [1]. Another method for superficial lesions has been described by Angiero et al. [13]. They used a 980-nm

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diode laser to treat 250 children with head and neck hemangiomas and venous malformations, with encouraging results.

[3]

[4]

4. Conclusion We describe a newborn with an antenatal hemorrhagic LM that was a challenge from a diagnostic and management perspective. Cervical LM should be always considered in the differential diagnosis of a neck mass in the neonatal age despite its appearance (e.g. solid components or open wound). Surgical approach is indicated whenever a malignancy cannot be ruled out. In addition, increase in size proportionally to the child, cosmetic disability, infection, oozing, and ulceration are considered surgical indications.

[5]

[6]

[7]

[8]

[9]

Financial disclosure statement

[10]

None of the authors have anything to disclose. [11]

Acknowledgements The authors would like to acknowledge Dr. Julie Hurteau-Miller of Radiology and Dr. David Grynspan of Pathology for their help in obtaining the images. References [1]

[2]

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and how. Oper Tech Otolaryngol Head Neck Surg 2002;13:8592. Zhou Q, Zheng JW, Mai HM, et al. Treatment guidelines of lymphatic malformations of the head and neck. Oral Oncol 2011;47:1105-9. Gedikbasi A, Gul A, Sargin A, Ceylan Y. Cystic hygroma and lymphangioma: Associated findings, perinatal outcome and prognostic factors in live-born infants. Arch Gynecol Obstet 2007;276:491-8. Perkins JA, Manning SC, Tempero RM, et al. Lymphatic malformations: Current cellular and clinical investigations. Otolaryngol Head Neck Surg 2010;142:789-94. Elluru RG, Azizkhan RG. Cervicofacial vascular anomalies. II. Vascular malformations. Semin Pediatr Surg 2006;15: 133-9. Hamoir M, Plouin-Gaudon I, Rombaux P, et al. Lymphatic malformations of the head and neck: A retrospective review and a support for staging. Head Neck 2001;23:326-37. Yazbeck S, Di Lorenzo M. Lymphangiomas. In: Stringer M, Oldham K, Mouriquand P, Eds. Pediatric Surgery and Urology: Long-term outcomes, 2nd ed. New York: Cambridge University Press; 2006; pp. 79-89. Broomhead IW. Cystic Hygroma of the Neck. Br J Plast Surg 1964;17:225-44. Mulliken JB, Glowacki, J. Hemangiomas and vascular malformations in infants and children: A classification based on endothelial characteristics. Plast Reconstr Surg 1982;69: 412-22. Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations: Part I. J Am Acad Dermatol 2007;56:353-70. Adams DM, Lucky AW. Cervicofacial vascular anomalies. I. Hemangiomas and other benign vascular tumors. Semin Pediatr Surg 2006;15:124-32. Angiero F, Benedicenti S, Benedicenti A, Arcieri K, Bern`e E. Head and neck hemangiomas in pediatric patients treated with endolesional 980-nm diode laser. Photomed Laser Surg 2009;27:553-9. Bajaj Y, Hewitt R, Ifeacho S, Hartley BE. Surgical excision as primary treatment modality for extensive cervicofacial lymphatic malformations in children. Int J Pediatr Otorhinolaryngol 2011;75:673-7. Boardman SJ, Cochrane L, Roebuck D, Elliott MJ, Hartley BE. Multimodality treatment of pediatric lymphatic malformations of the head and neck using surgery and sclerotherapy. Arch Otolaryngol Head Neck Surg 2010;136:270-6.

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Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a ...
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