Neonatal cervical lymphatic malformation involving the fetal airway the setting of emergency caesarean section

Christopher John Francis; Katie Mills; Jennifer Neville Kucera

doi:10.1515/crpm-2021-0068

Article Publicly Available

Neonatal cervical lymphatic malformation involving the fetal airway the setting of emergency caesarean section

Christopher John Francis , Katie Mills and Jennifer Neville Kucera

Published/Copyright: December 13, 2021

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From the journal Case Reports in Perinatal Medicine Volume 10 Issue 1

Abstract

Objectives

Lymphatic malformations are benign vascular anomalies comprised of lymphatic elements and most commonly occur in the neck. They may be diagnosed prenatally on ultrasound, and, in addition to confirming the diagnosis, fetal MRI can delineate the presence and extent of airway involvement. A variety of therapies are available for the treatment of lymphatic malformations including medical management, sclerotherapy, and surgery.

Case presentation

We report a case of a 28 year-old pregnant female diagnosed with a fetal neck mass by ultrasound at 21 weeks gestation. A fetal MRI was performed which demonstrated a multiseptated cystic neck mass most suggestive of a lymphatic malformation. The mass was noted to be intimately associated with the fetal airway. Follow up ultrasounds showed continued growth of the lesion throughout pregnancy. The baby was born by EXIT procedure and the lymphatic malformation was ultimately treated by a combination of medical treatment, sclerotherapy, and surgery.

Conclusions

Cervical lymphatic malformations have a classic imaging appearance and can enlarge throughout gestation as well as after delivery. The treatment plan typically involves a multidisciplinary approach.

Keywords: EXIT procedure; lymphatic malformation; sclerotherapy; sirolimus

Introduction

Lymphatic malformations (LM) are benign vascular malformations of the lymphatic system. They consist of dilated lymphatic channels or cystic lymphatic spaces filled with chylous material and lined by endothelial cells. They are characterized according to the International Society for the Study of Vascular Anomalies as “Slow-flow” type “simple vascular malformations” with the subcategory of “common (cystic) lymphatic malformations.” These common cystic lymphatic malformations can occur alone or can also occur as combined vascular malformations with venous, arteriovenous and capillary malformations [1]. They can be localized in the common form or diffusely distributed as in the case of generalized lymphatic anomaly (aka “lymphangiomatosis”). Some LM lesions present with overgrowth and belong to the PIK3CA overgrowth spectrum (e.g. Klippel-Trenaunay Syndrome and CLOVES syndrome Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal abnormalities). Interestingly, recent genetic research suggests sporadic PIK3CA mutations may be found in up to 94% of LMs. The mTOR/PIK3 signaling pathway plays a key role in lymphangiogenesis and the use of the mTOR inhibitor sirolimus has become crucial in medical therapy [2].

The reported incidence of LM is about one in 6,000 live births. The majority (75%) occur in the head and neck but they also commonly occur in the torso and axilla. On imaging, lymphatic malformations can be categorized into three different types based on the size of the cysts: macrocystic (cysts ≥1 cm), microcystic (cysts <1 cm), and mixed (containing both sizes of cysts). MRI and ultrasound are two commonly used imaging modalities for characterization and can be used prenatally for diagnosis [3].

Although benign lesions, LMs may become inflamed or suddenly larger due to internal bleeding. Cervical LMs surrounding the airway may pose a significant risk in the perinatal period, and can result in feeding difficulties, respiratory compromise, and significant disfigurement [3].

Case presentation

A pregnant 28-year-old G4P2 female was referred to maternal fetal medicine at 21 weeks gestation with concern for a fetal neck mass. The mother reported a history of preeclampsia resulting in preterm delivery with a past pregnancy but was otherwise healthy. Fetal ultrasound performed at 21 weeks revealed a complex cystic mass with internal septations originating off of the right side of the fetal neck. There was no definite internal doppler flow. In addition to follow up ultrasounds, the patient also underwent fetal MRI at 32 weeks. The MRI confirmed the presence of a complex cystic neck mass, which increased in size. The mass extended in close proximity to the fetal airway; however, at the time of the MRI, the airway was visualized and patent. There were no internal calcifications in the mass, and the fetal thyroid appeared normal. A diagnosis of lymphatic malformation was made on the basis of the prenatal imaging (Figure 1). Follow up ultrasounds throughout gestation showed continued growth of the neck lesion.

Figure 1:

Figure Images at different weeks of pregnancy.

(A) Fetal ultrasound sagittal image at 21 weeks demonstrated a septated cystic neck mass with absent internal blood flow. (B) Fetal MRI T2 FIESTA sagittal image at 32 weeks demonstrates a cystic neck mass (short arrow) with oral cavity involvement and abutment of the trachea (long arrow).

The baby was delivered at 33 weeks gestation via emergency Cesarean section secondary to signs of severe maternal pre-eclampsia with features of HELLP syndrome (Hemolysis, Elevated Liver Enzymes, Low Platelet count). The fetus was also in breech presentation. Due to concern for airway involvement by the mass, an EXIT-to-airway delivery was performed. The baby was delivered with an intact placenta and cord. A large, predominantly right-sided fluctuant soft tissue mass with a bluish hue was noted extending from the right neck and face to the midline. The otolaryngologist visualized the airway with a scope and demonstrated slight protrusion of the mass on the right into the supraglottic region. The patient was intubated, a peripheral IV was placed, and the infant was transferred to the NICU.

The neonate was stable early in his NICU course. Consultation with the vascular anomalies team, including members from hematology/oncology, interventional radiology, otolaryngology, and plastic surgery was obtained to develop a plan for the timing of treatment.

At 18 days of age, sirolimus was initiated to decrease lymphatic production. At 32 days of life, initial sclerotherapy was performed by instilling Doxycycline through percutaneous drains inserted into the dominant macrocysts under ultrasound guidance. This was performed over a multi-day regimen without exceeding a 150 mg dose per treatment [4, 5].

Microlaryngoscopy and bronchoscopy were performed by otolaryngology which demonstrated increasing involvement of the airway since the EXIT procedure. The lymphatic malformation was noted at the base of the tongue, vallecula, and obscuring the glottis. Due to the significant size and distribution of the lesion, the patient underwent modified radical neck dissection/debulking of the lesion along with tracheostomy. The baby did well postoperatively and was ultimately discharged from the hospital. The response to treatment is illustrated on the patient’s three MRIs (Figure 2).

Figure 2:

Sagittal T2 fat saturated MRI performed shows decreasing size of the neck lymphatic malformation after one round of sclerotherapy (A), two rounds of sclerotherapy and sirolimus (B) and 1 year after sclerotherapy, neck dissection and sirolimus (C).

Discussion

Lymphatic malformations are commonly encountered in the pediatric practice, and cases with airway involvement can be a source of anxiety for both providers and families during the perinatal period. A multidisciplinary approach to management is crucial to discuss the most appropriate plan and timing of care. Treatment options commonly include a combination of sclerotherapy for macrocystic disease, mTOR inhibitors, and surgical debulking with tracheostomy. In this case, the birth of a patient with a threatened airway due to cervical lymphatic malformation occurred in an emergency circumstance, and proper multidisciplinary planning enabled a good patient outcome.

Corresponding author: Christopher John Francis, Department of Radiology, Johns Hopkins All Children’s Hospital, 501 6th Ave South, St. Petersburg, FL, USA; and Department of Radiology, University of South Florida, Morsani College of Medicine, Tampa, FL, USA, E-mail: cfranc18@jh.edu

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

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Received: 2021-09-07

Accepted: 2021-11-16

Published Online: 2021-12-13

Articles in the same Issue

https://doi.org/10.1515/crpm-2021-0068

Keywords for this article

EXIT procedure; lymphatic malformation; sclerotherapy; sirolimus