Fetal neck giant hemangioma associated with postnatal arising Kasabach-Merritt syndrome

Summary

We report a prenatal ultrasound dia­gnosis of giant neck hemangioma at 30+1 weeks in a fetus resulting in the postnatal development of Kasabach-Merritt syndrome. Ultrasound scan revealed a large isoechoic mass occupying the whole neck, infiltrating the nasopharyngeal cavity, tongue, lower lip and mandible. Complex sonographic visualization with 2D and 4D was helpful in the process of parental counseling.

Keywords:

hemangioma – ultrasound – fetal neck – Kasabach-Merritt syndrome – congenital malformation

Introduction

Large neck hemangioma of the fetus is a rare congenital malformation. The incidence of congenital hemangiomas is 0.3%, with a female to male ratio of 3: 1 to 5: 1 [1]. Only 12% of congenital hemangiomas are localised on the head or neck. In the last 30 years the incidence increased from 0.97% to 1.97% (P < 0.001) [2]. Etiology is very hetero­genous. There are assumptions that congenital hemangiomas could be associated with premature labor, low birth weight, placental anomalies, pre­eclampsia, Caucasian race, multiple gestation and first trimester chorionic villus sampling [1,2]. Congenital neck hemangioma is defined as benign vascular hete­rogeneous tumor located from midline to lateral regions of the fetal neck, and is present at birth. Large tumor size with hyperextension of the neck is leading to polyhydramnios in the second half of pregnancy [3]. This anomaly may be dia­gnosed with a high degree of confidence by prenatal ultrasound examination. Prognosis depends on the histological type, location and size of the tumor [2]. Immediate multidisciplinary postnatal therapeutic management is crucial for the newborn patient.

Case report

A 20-year-old woman, gravida 1, who was referred in the 30^th week of her pregnancy because of a tumorous mass under the chin of the fetus dia­gnosed on ultrasound. The family history was not contributory. There was no exposure to possible teratogens. First-trimester screening was not performed. Morphologic ultrasound examination at 20 weeks of pregnancy was recommended, but was refused by the patient. We performed ultrasound examination at 31 weeks using an ultrasound system Voluson GE E 10 BT 18 (GE Medi­cal Systems, Milwaukee, WI) equipped with a convex 4–8 MHz abdominal transducer (RAB 4–8L). It revealed a living singleton fetus (composite ultrasound age 30 weeks and 1 day) with a large isoechoic tumorous structure extending from supraclavicular regions of the neck to the mandible, predominantly on the right side, measuring maximum diameter of approximately 85 mm. Tumor borders were blurred with signs of infiltration of surrounding organs. The left mandibular ramus and corpus seemed to be intact, but on the right side, bone destruction was suspected. During ultrasound examination, we discovered a protruding fetal tongue with polyhydramnios caused by swallowing difficulty, because the mass compressed the nasopharyngeal cavity from the right side and therefore we could not find the stomach of the fetus. The color Doppler flow imaging showed weak vascularization. Three-dimensional ultrasound using surface mode completed the appearance of the fetus. No other anomalies or fetal growth restriction were found. The pa­rents were consulted about the dia­gnosis and they refused prenatal genetic testing. Elective C-section was performed at 38 weeks of gestation. As an EXIT procedure was not essential, the neonate was intubated 3 min after the delivery. A large soft, purple lump was found in the neck and face region, with more pronounced swelling on the right side. Computer tomography (CT) scan and 3D CT angiography performed on the third day after delivery showed a large mass mostly in the right submandibular area and submental area. Destruction of the right mandibular ramus was obvious. ENT (ear, nose, throat) surgeons performed partial extirpation of the growing tumor on the fourth day after birth. After the U-shaped incision on the neck, the tumor was isolated from sternocleidomastoid, digastric and omohyoid muscles. The tumor mass interfered with the tissue of the thyroid gland so that it was separated by Ligasure. The heterogeneous mass extended to the parotid area on the right side where the tumor tissue was separated from the parotid gland and the facial nerve. The histopathological examination confirmed the tumor as cavernous hemangioma. Maxillofacial surgeons considered the facial part of the tumor to be inoperable and due to significant progression (infiltration) in the tongue, lower lip, chin and mandi­bular area, a classical tracheostomy was indicated. Despite the treatment with beta-blockers, corticosteroids and low molecular weight heparins, the growth of the tumor was considerable. The patient needed catecholamine support and despite repeated red blood cells transfusions, anemia became increasingly severe. The newborn blood count reflected changing periods of thrombocytopenia and thrombocytosis. Respiratory and circulatory failure occurred on the 21^st day after birth (Fig. 1–3).

Discussion

Hemangiomas are benign tumors formed by numerous dilated vessels. These tumors are classified as follows: cavernous, capillary, and mixed. According to the location of the tumor, they can be divided into superficial, deep, or compound [4]. The cavernous hemangioma discussed in this article is characterized as a mass of dilatated vessels deep in the skin and soft tissues, containing differentiated smooth muscle cells surrounding large blood-filled spaces. Congenital hemangiomas (CH) are either rapidly involuting CH very early after birth or non-involuting CH. It is not possible to distinguish them by prenatal ultrasound examination. Other tumors that may occur prenatally in the fetal neck should also be considered in the differential dia­gnosis (lymphangioma, fetal goiter, teratomas, fibrosarcoma) [5]. Anomalies associated with hemangiomas described in the literature are coarctation of the aorta and PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal malformation) [6,7]. Although hemangiomas occur spora­di­cally, a familial occurrence of tumors with autosomal dominant inheritance has been described in the literature [8]. The ultrasound characteristics of the cavernous hemangioma is based on imaging of several non-specific features such as solid-cystic structures with thicker walls and isoechogenic appea­rance. More frequently, dilated anechoic cystic structures (cavernae) within the hemangioma can be observed, which suggest ectasia of the preexistent vessels, associated with necrosis and hemor­rhage and pulsative flow may be present in the tumor. Prenatal imaging cannot relevantly differentiate the subtypes of hemangiomas [9]. 3D surface imaging of the tumor is helpful in prenatal parental counseling [2]. Giant hemangiomas may induce disseminated intravascular coagulation, hemolytic anemia and sometimes Kasabach-Merritt syndrome. A typical clinical sign of Kassabach Merritt’s syndrome is purple skin above the tumor with significantly progressive anemisation of the newborn. In giant hemangiomas, platelet and red blood cell pooling occurs [10].

ORCID autorů

E. Dosedla 0000-0001-8319-9008

Z. Ballová 0000-0002-0605-948X

Z. Marciová 0000-0002-9409-8250

P. Calda 0000-0002-2903-5026

Submitted/Doručeno: 17. 11. 2021

Accepted/Přijato: 14. 12. 2021

Assoc. Prof. Erik Dosedla, MD, PhD, MBA

Department of Gynaecology and Obstetrics

Faculty of Medicine, Pavol Jozef Safarik University

Hospital Agel Košice-Šaca Inc.

Lučná 57

040 15 Košice-Šaca

Slovak Republic

erik.dosedla@nke.agel.sk