Giant fetal axillo‐thoracic cystic hygroma associated with ipsilateral foot anomalies

Abstract

Fetal cystic hygromas (CH) are congenital malformations of the lymphatic system appearing as single or multiloculated fl uid-fi lled cavities. 1 Most CH are found in the neck; other rare locations include axilla, mediastinum, and limbs. They often progress to hydrops fetalis and cause fetal death. There is a high prevalence of associated chromosomal abnormalities, Turner's syndrome being the most common. 2 We present a case of fetal axillo-thoracic CH associated with ipsilateral foot anomalies diagnosed antenatally followed by full-term delivery in a 33-year-old woman. Case reportA 33-year-old woman, gravida 4 para 3 underwent ultrasound at 32 weeks' gestation to verify the age of the fetus. There was no family history of congenital anomalies. The patient's antepartum course had been unremarkable. Ultrasound evaluation, performed in the Department of Radiology, Cumhuriyet University Hospital, Sivas, Turkey at 32 weeks' gestation, showed a single male fetus (cephalic presentation, posterior placenta, normal amniotic fl uid and three-vessel umblical cord). Head circumference, biparietal diameter, bilateral femur lenghts and abdominal circumference measurements were compatible with 32 weeks' of gestation. Sonography was performed with a Powervision 6000 (Toshiba, Tokyo, Japan) ultrasound scanner and 4 MHz sector transducer. Morphological evaluation showed a multiseptated cystic mass measuring 12 cm at its largest diameter on the fetal left side, involving the left axillary region and the lateral chest wall, and surrounding the left humerus ( Fig. 1). The mass contained a single dominant thin -walled, multisepta loculation. The cystic lesions showed no relation with the fetal spine. Repeated sonographic scans at 34 and 37 gestational weeks did not demonstrate any enlargement of the cystic mass. No vascular signal was found at Doppler color fl ow mapping. No additional fetal structural anomalies were visualized. The chromosomal analysis of amniotic fl uid cells showed a normal 46,XY karyotype. A cesarean section was performed, and a male infant was delivered with normal Apgar score at 40 weeks. He had an Apgar index of 8 at 1 min and 10 at 5 min. At birth, his weight was 3150 g, length was 49 cm. Physical examination revealed a large nodular mass in the left axillo-thoracic region ( Fig. 2a). In addition, there was marked hemihypertrophy of the left leg when compared with the right. The skin had a port-wine discoloration. The left foot had macrodactyly with hypertrophy of the fi rst toe, unilateral syndactyly of the second and third toes; the fi rst and second toes were widely spaced ( Fig. 2b ). This combination of features led us to diagnose Proteus syndrome (PS). Abdominal sonography showed that the liver, pancreas, kidneys and spleen were normal. There were no abnormal fi ndings on transfontanellar ultrasonographic evaluation. Forty-eight hours after delivery, chest computed tomography (CT) examination showed a large mass invading the left axillary region and the thoracic wall without extension to the upper neck ...

Isolated fetal lymphatic malformation of the thigh: prenatal diagnosis and follow-up

“…Recent trends in the management of patients with lymphatic malformations has shifted to a multidisciplinary approach involving intra-lesional sclerotherapy and medical management with surgical resection reserved as a second-line treatment 8. Intra-lesional therapy options include injection of sclerosing agents, such as bleomycin, tetracycline, alcohol, and OK-432 3 , 9 - 12. In our case, sclerotherapy was not accepted by the family.…”

An Unusual Origin of Fetal Lymphangioma Filling Right Axilla

“…The fetus did not have any other skeletal, vascular and lymphatic abnormalities, so the presence of Klippel-Trenaunay-Weber syndrome (also called angioosteohypertrophy syndrome, haemangiectatic hypertrophy or osteohypertrophic naevus flammeus) associated with hemihypertrophy seemed unlikely [4].…”

“…Its prevalence has been reported to be about 1.1-5.3 per ten thousands births [3], and has been reported as not related to fetal gender [4]. To a large extent, it is septated.…”

“…Colour Doppler ultrasound reveals no venous or arterial blood flow within the mass. Ipsilateral extremities are prone to have additional abnormalities like limb reduction deformities, hemihypertrophy [4]. The prognosis has been reported to be associated with the penetration or invasion of the neighbouring tissues.…”

“…The administration of OK-432 has been reported as successful [4]. Also, there is a case report in the literature which reported absolute cure of fetal cystic hygroma with the use of OK-432 injection via the abdomen of the pregnant woman [16].…”