Prenatal diagnosis of Klippel–Trenaunay–Weber syndrome with Kasabach–Merritt syndrome in utero

Abstract

Klippel-Trenaunay-Weber syndrome (KTWS), a congenital disease characterized by cutaneous hemangiomas, soft tissue and bone hypertrophy, and occasionally arteriovenous malformations, is extremely rare and its natural history in utero is unknown. We present a prenatally diagnosed case of KTWS complicated with Kasabach-Merritt syndrome in utero and fetal hydrops from acute anemia. The fetus was diagnosed with KTWS at 24 weeks of gestation based on the ultrasound findings of hemangiomas and unilateral hypertrophy of the lower extremity. Acute enlargement of the hemangiomas and the appearance of new retroperitoneal hemangiomas were detected at 27 weeks, along with skin edema and cardiomegaly. Doppler examination showed elevated peak systolic velocity in the middle cerebral artery, indicating acute fetal anemia. We believe the fetus's condition was complicated with Kasabach-Merritt syndrome in utero, which caused acute hemolytic anemia leading to high-output cardiac failure and fetal hydrops.

HDlive Imaging of a Giant Fetal Hemangioma

“…Kasabach‐Merritt syndrome is another serious complication, in which large hemangiomas trap platelets inside them, causing thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy 7 . High‐output cardiac failure can also develop in cases of large hemangiomas as well as non‐immune fetal hydrops 8 . Therefore, precise diagnosis of a congenital hemangioma is mandatory, and its exact location is considered as an important prognostic factor.…”

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

“…Beckwith Wiedemann syndrome can present with NIHF and placental cysts, in addition to other structural anomalies . Klippel‐Trenaunay‐Weber syndrome may present with placental hemangiomas . Other infrequent placental and umbilical cord lesions that have been associated with NIHF include chorioangioma, angiomyxoma of the umbilical cord, and aneurysm of the umbilical artery …”

“…Enlargement of soft tissues in the limb as well as lipomatous truncal masses can be seen in PIK3CA-associated mutations, 36 and cutaneous cystic lesions with multiple pterygium and Klippel-Trenaunay-Weber syndromes. 29 Severe cases of ichthyosis have been reported in the setting of NIHF with Neu-Laxova, 89,92 Gaucher, 51 and sphingosine-1-phosphate lyase deficiency syndromes. 117 Echogenic debris representing large sheets of sloughed skin cells may be observed on ultrasound in the amniotic fluid in these cases.…”

“…Although skin manifestations beyond edema are quite rare in cases of NIHF, there are several that should be mentioned. Enlargement of soft tissues in the limb as well as lipomatous truncal masses can be seen in PIK3CA‐ associated mutations, and cutaneous cystic lesions with multiple pterygium and Klippel‐Trenaunay‐Weber syndromes . Severe cases of ichthyosis have been reported in the setting of NIHF with Neu‐Laxova, Gaucher, and sphingosine‐1‐phosphate lyase deficiency syndromes .…”

Prenatally diagnosed congenital hemangioma with elevated middle cerebral artery peak systolic velocity mimicking the Kasabach‐Merritt phenomenon: A case report

“…The incidence of CH is approximately 0.2%, as previously reported . Hypervascular lesions, including CH, especially when large or multiple regions, may be detected in the fetal period and can cause some serious problems, such as high output cardiac failure and consumptive coagulopathy called Kasabach‐Merritt phenomenon (KMP) . CH with KMP can possibly lead to fetal demise; however, no standard managements were available because of the difficulties of precise diagnosis without invasive fetal assessments.…”