Journal of Paediatrics and Child Health | 2019
Neck cystic haemangiolymphangioma associated with congenital agenesis of the internal jugular vein in a term newborn
Abstract
A 38-year-old primigravida woman (pregnancy with assisted reproduction techniques) underwent a prenatal ultrasound at 35 weeks of gestation: the three-vessel view showed dilated right superior vena cava with normal spatial arrangement and sizes of aorta and pulmonary artery. A fetal magnetic resonance imaging (MRI) at the same gestational age confirmed the dilatation of the superior cava vein and demonstrated the four polmonary veins that normally returned to left atrium, ruling out an anomalous pulmonary venous connection. In the absence of other associated abnormalities, the radiological diagnosis was an idiopathic dilatation of superior caval vein (SCV). After a normal pregnancy, the labour and a vaginal delivery occurred without complications at 39 weeks; a 3.750-kg full-term female infant was born. The Apgar score was 8–9 at 1 and 5 min. A tender mass, not detected prenatally, was noted in the right laterocervical region (Fig. 1). The overlying skin appeared violet and no obvious signs of compression of the trachea and/or oesophagus, such as stridor, dyspnoea and/or dysphagia, were evident. Thus, the patient was referred to our division to surgical evaluation. A post-natal neck ultrasonography confirmed the presence of unilocular cystic mass extended from the right side of the neck to the anterior mediastinum. The cardiac ultrasonography confirmed the dilatation of the SCV as far as the left innominate vein. The routine cranial ultrasonography was unremarkable. An enhanced MRI to study the nature of the lesion and its relationship to adjacent structures, and computer tomography (CT) study with contrast of the neck and thorax, to evaluate the vascular anatomy (including sagittal and coronal reconstructed images), revealed a pseudocystic appearance lesion starting from the neck up to antero-superior mediastinum (on the right). It measured 8.8 cm in lenght by 6.5 cm in trasverse dimensions and by 5 cm in antero-posterior dimensions. Evidently it compressed the right anonymous vein up to the confluence in SCV which appeared clearly dilated (transverse diameter 9 mm) as well as the left anonymous and the left jugular veins (Figs 2,3). However, the right internal jugular vein was completely absent. Fine needle aspiration cytology of the mass showed an haemorragic aspirate and the bleeding from the puncture site stopped with local pressure for few minutes. The observation of bleeding within the lesion is an incidental finding and in this case occurred after a fetal MRI. The emogasanalysis exam of the aspirate showed Hb 8.4 g/dL, which was the same value of the patient’s Hb; therefore the content of the mass was fresh and not clotted blood, without any other fluids. For this reason, we thought the mass was originated from a vessel and/or it was slowly bleeding, so we decided to plan the patient for surgical exploration and excision of the mass as an elective procedure, in her 10th day of life, the day after we performed the fine needle aspiration cytology. Intraoperatively we found a mass arising from the lower part of right neck under the sternocleidomastoid muscle pushing the common carotid artery and vagus nerve. These were dissected off the mass as good tissue planes were available around the mass. Thus, the mass was completely excised without complications. The surgeon confirmed the total absence of right internal jugular vein. Histopathology showed dilated lymphovascular spaces with numerous red cells in the lumen and lymphoid aggregates in the cyst wall. Immunohistochemical staining with CD31, CD34, D2-40 highlighted an endothelial cellular lining in one section of the cyst. Based on these results, the diagnosis of haemangiolymphangioma (HLA) was confirmed. Post-operative course was unremarkable and the wound healed well; the patient was discharged on the 15th postoperative day. During the follow-up period, the baby was always in good general conditions; a CT study after 4 months was performed and revealed scar tissue in the neck with normal trachea and bronchi, without any recurrence. Key Points 1 In a newborn with a tender mass in laterocervical region do not forget the diagnosis of haemangiolymphangioma may be associated to other vascular malformations. 2 Prenatal diagnosis of this condition is difficult and may be distinguished from other vascular or cystic malformations. 3 The need for head and neck surgeons to be aware of such an entity and should be considered in differential diagnosis for neck masses with similar features.