Fetal axillary cystic hygroma: A novel association with triple X syndrome.

Oct 2012

Iskender C, Tarım E, Cok T, Yalcinkaya C, Kalaycı H, Sahin F.

Source

Department of Obstetrics and Gynecology, Baskent University Faculty of Medicine, Seyhan, Adana, Turkey. c_iskender@yahoo.com.

Abstract

BACKGROUND:

Triple X syndrome is a relatively common sex chromosomal aneuploidy with an estimated incidence of one in every 1000 female births. There is considerable diversity in phenotypes among patients with triple X syndrome. Triple X syndrome has been shown to have associated abnormalities, with genitourinary malformations being the most consistent. Cystic hygroma (CH) is a lymphatic malformation that occurs because of the lack of development of communication between the lymphatic and the venous systems. CH has an incidence of 1 in every 6000-10,000 live births. CH is associated with a variety of conditions, including chromosomal aneuploidies and fetal malformations.

CASE:

We report a case of prenatally detected triple X syndrome with axillary CH as an isolated finding. The patient was referred because of a fetal cystic mass at the right axillary region. Amniocentesis revealed 47,XXX karyotype, and no additional abnormalities were detected prenatally or after abortion.

CONCLUSION:

This is a novel description of axillary CH associated with triple X syndrome. 

Wiley Online Library

Case report of fetal axillo-thoraco-abdominal cystic hygroma.

Case report of fetal axillo-thoraco-abdominal cystic hygroma.

Arch Gynecol Obstet. 2009 Apr 10

Masood SN, Masood MF.
Dow University of Health Sciences, Karachi, Pakistan, sh_naz@yahoo.com.

Cystic hygroma (moist tumor) was first described in 1828 by Redenbacher. The cyst usually results owing to an absence or an inefficient connection between the lymphatic and venous systems. Of this type of malformation 75% cases are localized in the nuchal region; however, only 20% are found in the axilla while 5% of these hygromas are in other locations. Prognosis depends on associated fetal co-morbidities. There are many case reports on cystic hygroma but only a few on the axillo-thoraco-abdominal variant. This is a case report of a huge late-onset fetal axillo-thoraco-abdominal cystic hygroma, which was diagnosed at term followed by a difficult vaginal delivery in a 38-year-old woman. The baby did not have any congenital anomaly other than cystic hygroma with no evidence of intrathoracic or intra-abdominal extension of mass and a pelvic kidney reported on neonatal ultrasound and CT scan. The surgical excision of the cyst was done on the fourth day following birth and the histopathology report confirmed the diagnosis. Management of fetal cystic hygroma with the use of a sclerosing agent is a new modality being explored. Risk of recurrence in subsequent pregnancies for aneuploidy is not increased. The baby has been followed up to 5 months of birth and is thriving well. Karyotype shows an XX pattern.

SpringerLink

Interstitial magnetic resonance lymphography: the clinical effectiveness of a new method.

Interstitial magnetic resonance lymphography: the clinical effectiveness of a new method.
Lymphology. 2008 Sep

Dimakakos E, Koureas A, Koutoulidis V, Skiadas V, Katsenis K, Arkadopoulos N, Gouliamos A, Vlachos L.
Vascular Unit of 2nd Surgical Clinic, University of Athens, Greece. edimakakos@yahoo.gr

The aim of this study is to evaluate effectiveness of interstitial magnetic resonance lymphography as an examination for the depiction of the lymphatic system in humans by comparison with direct x-ray lymphography. We studied 14 subjects (two volunteers and 12 patients with clinical suspicion of lymphedema of the lower extremities). We first administered subcutaneous gadobutrol between the toes and performed MR lymphography. After seven days, we injected lipiodol into the lymph vessels of 8 patients and performed x-ray direct lymphography to compare findings of two methods. We identified the normal lymphatic system (lymph vessels and inguinal lymph nodes) of volunteers. In seven subjects, we were able to image an abnormal lymphatic system with decreased number of lymph vessels, lymphoceles, and ectatic lymph vessels. In three subjects we identified both an abnormal lymphatic and venous system and in two patients only the venous system. In all cases x-ray direct lymphography confirmed the findings of the MR lymphography. No side effects were observed from either contrast agent. We expect that in the future, interstitial MR lymphography will be improved and evolve into a valuable diagnostic tool for the evaluation of lymphatic diseases particularly those who present with primarily lymphedema in the lower limbs or second, in regions other than extremities.

PubMed