Fetal neck giant hemangioma associated with postnatal arising Kasabach-Merritt syndrome
Obrovský hemangióm krku plodu spojený s postnatálnym Kasabach-Merrittovým syndrómom
Uvádzame prenatálnu ultrazvukovú diagnostiku obrieho krčného hemangiómu v 30+1 týždni u plodu s následkom postnatálneho vývoja Kasabach-Merrittovho syndrómu. Ultrazvukové vyšetrenie odhalilo veľkú izoechogénnu hmotu zaberajúcu celý krk, infiltrujúcu do nosohltanovej dutiny, jazyka, dolnej pery a dolnej čeľuste. Komplexná sonografická vizualizácia s 2D a 4D bola nápomocná v procese rodičovského poradenstva.
Klíčová slova:
hemangiom – ultrazvuk – krk plodu – Kasabach-Merrittov syndróm – vrodená malformácia
Authors:
Dosedla E. 1; Ballová Z. 1; Marciová Z. 2; Calda P. 3
Authors place of work:
Department of Gynaecology nad Obstetrics, Pavol Jozef Safarik University in Kosice Faculty of Medicine and Hospital Agel Košice-Šaca Inc., Košice-Šaca, Slovak Republic
1; ENT Department, Children's University Hospital Košice, Košice, Slovak Republic
2; Department of Gynaecology and Obstetrics, First Faculty of Medicine, Charles University and General Teaching Hospital in Prague, Prague, Czech Republic
3
Published in the journal:
Ceska Gynekol 2022; 87(1): 43-46
Category:
Kazuistika
doi:
https://doi.org/10.48095/cccg202243
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 30th 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 21st day after birth (Fig. 1–3).
Obr. 1. Fetálny ultrazvukový nález v 30. týždni. a) Profil plodu s veľkou hmotou,
ktorá úplne zaberá oblasti krku plodu, brady a dolnej čeľuste (všimnite si veľkú anechoickú
cystickú štruktúru zvýraznenú modrou farbou). b) Farebný dopplerovský
obrázok obrázku a). Sublingválna tepna (žltá šípka), jazyk (červená šípka).
c) Axiálna rovina so šikmým insonačným uhlom cez ústa, hltan (F) a krčnú chrbticu
(CS). Ľavý mandibulárný ramus (M), ľavá spoločná karotída (LCCA), pravá spoločná
krčná tepna. d) 3D povrchovo vykreslený obraz tváre s vyčnievajúcim jazykom (T)
a opuchnutou spodnou perou.
Obr. 2. Postnatálne fotky novorodenca.
a) Ihneď po narodení. Vykazuje difúzny
opuch zahŕňajúci dolnú polovicu tváre
zvýraznenú žltou farbou. Všimnite si
veľkú hrčku na pravej strane predstavujúcu
veľkú cystickú časť hemangiómu
(modrá). b) 3D CT angiogram ukazuje
kostnú deštrukciu pravého tela a ramena
dolnej čeľuste. c) Sagitálny CT obraz ukazuje
submandibulárnu hmotu.
Obr. 3. a) Intraoperačný pohľad pri
čiastočnej exstirpácii hemangiómu.
b) Pooperačný obraz ukazuje výraznú
redukciu hemangiómu s viditeľnou infiltráciou
do dolnej pery. c) Masívny opuch
na krku a tvári v čase zlyhania životných
funkcií.
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
Zdroje
1. Chamli A, Litaiem N. PHACE syndrome. Treasure Island (FL): StatPearls Publishing 2021.
2. Zheng W, Gai S, Qin J et al. Role of prenatal imaging in the diagnosis and management of fetal facio-cervical masses. Sci Rep 2021; 11 (1): 1385. doi: 10.1038/s41598-021-80976-4.
3. Rodríguez Bandera AI, Sebaratnam DF, Feito Rodríguez M et al. Cutaneous ultrasound and its utility in pediatric dermatology. Part I: lumps, bumps, and inflammatory conditions. Pediatr Dermatol 2020; 37 (1): 29–39. doi: 10.1111/ pde.14033.
4. Braun V, Prey S, Gurioli C et al. Congenital haemangiomas: a single-centre retrospective review. BMJ Paediatr Open 2020; 4 (1): e000816. doi: 10.1136/bmjpo-2020-000816.
5. El Zein S, Boccara O, Soupre V et al. The histopathology of congenital haemangioma and its clinical correlations: a long-term follow-up study of 55 cases. Histopathology. 2020 Aug; 77 (2): 275-283.
6. Peng SH, Yang KY, Chen SY et al. Research progresses in the pathogenesis, diagnosis and treatment of infantile hemangioma with PHACE syndrome. Zhongguo Dang Dai Er Ke Za Zhi 2017; 19 (12): 1291–1296. doi: 10.7499/j.issn.1008- 8830.2017.12.013.
7. Siegel DH. PHACE syndrome: infantile hemangiomas associated with multiple congenital anomalies: clues to the cause. Am J Med Genet C Semin Med Genet 2018; 178 (4): 407–413. doi: 10.1002/ajmg.c.31659.
8. Ding Y, Zhang JZ, Yu SR et al. Risk factors for infantile hemangioma: a meta-analysis. World J Pediatr 2020; 16 (4): 377–384. doi: 10.1007/s12519-019-00327-2.
9. Quintanilla-Dieck L, Penn EB Jr. Congenital neck masses. Clin Perinatol 2018; 45 (4): 769–785. doi: 10.1016/j.clp.2018.07.012.
10. Lewis D, Vaidya R. Kasabach Merritt syndrome. Treasure Island (FL): StatPearls Publishing 2021.
Štítky
Detská gynekológia Gynekológia a pôrodníctvo Reprodukčná medicínaČlánok vyšiel v časopise
Česká gynekologie
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