They usually occur in the fetal - infantile and paediatric populations with most lesions presenting by the age of two. The estimated prevalence in the fetal population is at ~ 0.2 - 3 %.
Patients in the infantile or paediatric populations can present with pain, dyspnoea, infection, haemorrhage or respiratory compromise.
They are thought to arise from delayed development / maldevelopment - failure to communicate with the venous system of the lymphatic system of the neck. Like other lymphangiomas, there are endothelial lined cavernous lymphatic spaces. They are microscopically comprised of endothelium lined cystic spaces with scanty stroma. They can significantly vary in size. Lymphatic vascular malformations may be mixed with other forms of vascular malformation, including capillary or venous.
They occur most commonly in the neck - which is then also termed nuchal cystic hygroma ( occurs in ~ 80% of cases) 7 and axilla, with only 10% of cases extending to the mediastinum 2,3 and only 1% confined to the chest 1.
Associated anomalies can be common
- aneuploidic anomalies : 50 - 80 % of cystic hygromas can be associated with an aneuploidic abnormality
- congenital cardiac anomalies :
- pentalogy of Cantrell 8
- Apert syndrome
- Cornelia de Lange syndrome
- fetal alcohol syndrome
- Fryns syndrome 11
- lethal multiple pterygium syndrome
- limb hypertrophy
- Noonan syndrome
- Pena Shokeir syndrome 11
They are usually well circumscribed and are of fluid density. Cystic hygromas may also have an infiltrative appearance, and may be uni or multilocular. The density can also be variable with a combination of fluid, soft-tissue density and fat.
On antenatal ultrasound they may present as a nuchal cyst and may show septations + / - evidence of fetal anasarca / hydrops fetalis. The presence of septations may indicate a poorer outcome. Greater volumes ( > 75 mm3 according to one study 9) are thought to correlate with increased karyotypic abnormality and poorer fetal outcome 9-10.
Commonly seen as a hypo-attenuating ill defined cystic mass.
Reported signal characteristics include
- T1 : predominantly low signal - unless there are haemorrhagic components
- T2 : predominantly high signal
- T1 C+ (Gd) : no enhancement on any component except occasional faint enhancement of rim
- development of non-immune hydrops fetalis : which often indicates a poorer prognosis
- respiratory obstruction from pharyngeal oedema 11
Treatment and prognosis
Management may be by surgical excision or by injection with OK-432, a preparation containing Streptococcus pyogenes antigens, which induces an inflammatory response and subsequent obliteration of the abnormal cavities. Most fetuses with cystic hygromas have a poor prognosis although it may improve in utero on its own in a very small proportion of cases. Spontaneous remission does not necessarily exclude an abnormal karyotype.
Considerations on antenatal ultrasound include
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- 2. Faul JL, Berry GJ, Colby TV et-al. Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome. Am. J. Respir. Crit. Care Med. 2000;161 (3 Pt 1): 1037-46. Am. J. Respir. Crit. Care Med. (link) - Pubmed citation
- 3. Miyake H, Shiga M, Takaki H et-al. Mediastinal lymphangiomas in adults: CT findings. J Thorac Imaging. 1996;11 (1): 83-5. Pubmed citation
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- 5. Webb WR, Higgins CB. Thoracic imaging, pulmonary and cardiovascular radiology. Lippincott Williams & Wilkins. (2005) ISBN:078174119X. Read it at Google Books - Find it at Amazon
- 6. Mernagh JR, Mohide PT, Lappalainen RE et-al. US assessment of the fetal head and neck: a state-of-the-art pictorial review. Radiographics. 1999;19 Spec No : S229-41. Pubmed citation
- 7. Merz E, Bahlmann F. Ultrasound in obstetrics and gynecology. Thieme Medical Publishers. (2005) ISBN:1588901475. Read it at Google Books - Find it at Amazon
- 8. Hsieh YY, Lee CC, Chang CC et-al. Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound. 1998;26 (8): 409-12. J Clin Ultrasound (link) - Pubmed citation
- 9. Rosati P, Guariglia L. Prognostic value of ultrasound findings of fetal cystic hygroma detected in early pregnancy by transvaginal sonography. Ultrasound Obstet Gynecol. 2000;16 (3): 245-50. doi:10.1046/j.1469-0705.2000.00223.x - Pubmed citation
- 10. Rosati P, Guariglia L. Transvaginal ultrasound detection of septated and non-septated cystic hygroma in early pregnancy. Fetal. Diagn. Ther. 12 (3): 132-5. - Pubmed citation
- 11. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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