Klippel-Trenaunay-Weber syndrome with abdominal hemangiomata appearing on ultrasound examination as intestinal obstruction.

Abstract

Klippel–Trenaunay–Weber syndrome is a rare, congenital anomaly, characterized by the triad of a port wine stain, varicose veins and hemangiomata, and bony and soft tissue hypertrophy of an extremity1. Most, but not all, patients display all three features of the triad, and in most series nearly 100% of patients have hemangiomata1, 2. The most common site affected is the leg1. We present a case of the syndrome with involvement of the fetal intestine, appearing on ultrasound examination as intestinal obstruction, suggesting that the syndrome or abdominal hemangiomata in general should be considered in the differential diagnosis of intestinal obstruction. A 36-year-old woman, gravida 2 para 1, with an unremarkable medical and family history, normal first-trimester ultrasound examination and normal fetal karyotype after amniocentesis at 18 weeks, presented for second-trimester routine ultrasound examination at 22 weeks. Extensive intestinal distention was seen, with multiple fluid-filled loops of bowel in the abdomen (Figure 1); no other abnormal findings were noted. The sonographic appearance was similar to that of intestinal obstruction. Detailed color Doppler of the lesion failed to demonstrate any blood flow within it. Genetic counseling was focused on the probability of intestinal obstruction. Genetic testing of both parents for cystic fibrosis was negative. At 38 weeks, after a spontaneous uncomplicated labor, a live, female infant weighing 3200 g was delivered. Her right thigh was 2 cm longer than the left, and abdominal distention was evident (Figure 2), together with multiple cutaneous hemangiomata with port wine stain on the right side of the abdomen and thorax and the left gluteal area and leg. Abdominal ultrasound, Doppler, computed tomography and magnetic resonance imaging showed a large intra-abdominal hemangioma, supplied by the superior mesenteric artery, involving the small intestine. The infant is now 13 months old, doing well, the abdominal lesion is reduced in size and expectant management with regular follow-up is the current treatment plan. Prenatal ultrasound at 22 weeks' gestation showing extensive distention of the fetal intestine, with multiple, fluid-filled loops of bowel in the abdomen. The infant with abdominal distention, due to hemangiomata, evident at birth. Multiple, dilated, fluid-filled loops of bowel in the fetal abdomen are the main feature of intestinal obstruction. The most common causes of this condition are Hirschsprung's disease and cystic fibrosis. There does not seem to be an association of intestinal obstruction with major chromosomal anomalies. Klippel–Trenaunay–Weber syndrome is a well-defined pathological entity, with numerous reports in the pediatric literature. In recent years various prenatal sonographic appearances of the syndrome, depending on gestational age and extent and location of the lesions have been described, including three-dimensional images3-7. Only in one case was the fetal intestine involved, but this was merely a secondary sonographic finding, with hypertrophy of the right fetal leg being the primary abnormality seen on ultrasound examination3. The exact cause of the syndrome is unknown1. Males and females are affected equally. Early theories suggested a spinal cord anomaly or an intrauterine injury of the sympathetic ganglia leading to dilatation of arteriovenous shunts or chronic venous hypertension due to increased arterial flow or deep venous abnormalities1, 5. More recent theories suggest a mesodermal abnormality during fetal growth1, 5 or abnormal regulation or production of growth factors primarily affecting angiogenesis5. There does not seem to be a correlation with major chromosomal anomalies and most cases occur sporadically. Familial aggregation has been also reported1, 5, and some cases appear to be inherited in an irregular autosomal or recessive autosomal manner5. In particular, a single defect of a gene located on chromosome 5 or 11 has been postulated to cause the syndrome, after a reciprocal translocation was found in a girl having the syndrome5. The Klippel–Trenaunay–Weber syndrome has in general a benign course. In most cases the hemangiomatous lesions tend to regress in the neonatal period4. However, if the hemangiomata are very extensive, in utero heart failure and severe postnatal sequelae may occur, and if visceral organs are involved there is higher than normal morbidity due to internal bleeding5, 6. Concerning prenatal counseling, parents should be informed about the inheritance pattern of the syndrome, particularly that most cases occur sporadically, that there is no known association with major chromosomal anomalies and that most cases have a benign postnatal course. If the image of multiple, dilated, fluid-filled intestinal loops is detected during prenatal ultrasound examination, Klippel–Trenaunay–Weber syndrome with intestinal involvement and in general hemangiomata of the intestine should be considered in the differential diagnosis, besides Hirschsprung's disease and cystic fibrosis, and other less common causes of intestinal obstruction. E. Assimakopoulos*, M. Zafrakas*, A. Athanasiades*, V. Peristeri , P. Tampakoudis*, J. Bontis*, * 1st Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, Hippokrateio General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece, Department of Neonatology, Aristotle University of Thessaloniki, Hippokrateio General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece