Infantile hepatic hemangioma misdiagnosed by prenatal ultrasonography: A case report.

RATIONALE: The drastic differences in treatment and prognosis of infantile hepatic hemangioma (IHH) and hepatoblastoma (HBL) make accurate prenatal diagnosis imperative. The retrospective comparisons of ultrasonic features between fetal IHH and HBL have been reported before, but clinically, the differential diagnosis in utero is very difficult and can lead to prenatal misdiagnosis. PATIENT CONCERNS: A 27-year-old woman at 30 gestational weeks underwent the routine prenatal examination. A heterogeneous solid mass of the fetus, with close relationship to the liver, was recognized by ultrasound. DIAGNOSIS: A diagnosis of HBL was highly considered. INTERVENTIONS: The fetus was aborted and the autopsy was performed. OUTCOMES: The histological outcome was IHH. LESSONS: The prognosis of fetal IHH and HBL is very different, so an accurate diagnosis prenatally is crucial and indispensable. The radiologist and clinician should differentiate between IHH and HBL, especially since the fetus can have serious complications.

Prenatally detected umbilical cord tumor as a sign of diffuse neonatal hemangiomatosis.

We report a case of a prenatally detected hemangioma of the umbilical cord as an early sign of diffuse neonatal hemangiomatosis (DNH). The newborn was diagnosed with multiple hemangiomas in the liver, intestines, skin, and brain. Prenatal ultrasound findings, neonatal appearance of the hemangiomas, and the associated complications are illustrated. Interdisciplinary investigations as well as operative and systemic treatment approaches proved to be challenging. This case illustrates how prenatal ultrasound with color Doppler facilitates the early diagnosis of DNH and can help through the early referral to specialized centers for appropriate treatment.

Huge fetal hepatic Hemangioma: prenatal diagnosis on ultrasound and prognosis.

BACKGROUND: Although huge fetal hepatic hemangiomas are rare, they can cause fatal complications. The purpose of this study is to describe the imaging features and prognosis of these tumors. METHODS: Imaging data were collected for 6 patients with huge fetal hepatic hemangiomas treated at our hospital. Imaging modalities included prenatal magnetic resonance imaging and ultrasound and postnatal color Doppler ultrasound and contrast-enhanced computed tomography (CT). RESULTS: Among the 93,562 fetuses of 92,126 pregnant women examined at our hospital, 6 had huge hepatic hemangiomas (incidence rate, 0.64/10,000), as confirmed via postnatal color Doppler imaging and contrast-enhanced CT. Five fetuses had solitary lesions, whereas 1 (fetus 2) had multiple lesions. Four fetuses had lesions in the right liver lobe and 1 had a lesion in the left liver lobe, and 1 (fetus 2) had lesions in both lobes. All lesions showed centripetal enhancement on postnatal contrast-enhanced CT, which was more intense peripherally. Following postnatal treatment with oral propranolol, with or without dexamethasone or interventional therapy with the medical sclerosant pingyangmycin, all lesions decreased in size, with calcification plaques appearing 6 months after treatment. CONCLUSIONS: Huge hepatic hemangiomas have typical ultrasonographic features and can be diagnosed prenatally. Treatment with propranolol, with or without dexamethasone, may result in a favorable prognosis.

Infantile hemangioma: pathogenesis and mechanisms of action of propranolol.

Infantile hemangioma (IH) is the most common benign tumor of childhood, with a prevalence of 4 % to 10 %. It is characterized by a proliferative rapid growth phase, which starts after a few weeks of life, followed by a slow regression phase. In IH cases that are potentially disfiguring or life-threatening (10 % to 15 % of all cases), systemic therapy should be promptly initiated. Data source The present study reviews published scientific articles available in reliable electronic databases. Selected were all studies that evaluated the pathogenesis of IH and the mechanisms of action of propranolol. Conclusions The pathogenesis of IH has not been fully elucidated. Studies show that, in the proliferative phase of IH, there is an imbalance of angiogenic factors and an increase in the levels of vascular endothelial growth factor and matrix metalloproteinases 2 and 9. In the regression phase, the levels of these factors decrease, whereas those of antiangiogenic factors, including tissue inhibitors of matrix metalloproteinases, increase. Since 2008, propranolol has become the drug of choice in the treatment of IH, targeting vascular tone, angiogenesis, and apoptosis. Current insights into the pathogenesis of IH allow for the development of new therapeutic strategies.

Giant chorioangioma treated in utero via laser of feeding vessels with subsequent development of multifocal infantile hemangiomas.

We report a case of a giant placental chorioangioma (15.6 cm diameter) complicated by polyhydramnios and severe fetal heart failure. Fetoscopic laser occlusion of a dominant feeding vessel was performed at 29 weeks' gestation and partial devascularization was achieved. In the 33rd week of the pregnancy, the decision was made to preemptively deliver the fetus due to persistent signs of fetal cardiac failure. After birth, the infant developed multifocal infantile hemangiomas with extracutaneous involvement. We posit that the development of infantile hemangiomas may be linked to the presence of the large chorioangioma. Further study is required to ascertain if fetal treatment of the chorioangioma may have been an exacerbating factor.

Fetal and placental vascular tumors: persistent fetal hyperdynamic status predisposes to poorer long-term neurodevelopmental outcome.

OBJECTIVE: To evaluate the association between fetal hemodynamic changes seen in the presence of vascular tumors of fetal or placental origin and risk of adverse pregnancy outcome. METHODS: All cases of placental chorioangioma, sacrococcygeal teratoma and pulmonary sequestration during a 10-year period were included. Ultrasound data and pregnancy and long-term neurodevelopmental outcomes were assessed in this cohort. A survival analysis was performed to assess the relationship between the cardiovascular profile score (CVPS) and adverse pregnancy outcome. RESULTS: There were 56 fetal or placental tumors, including 28 chorioangiomas, 10 sacrococcygeal teratomas and 18 pulmonary sequestrations, diagnosed at a median gestation of 23 + 3 weeks. Abnormal CVPS (≤ 8) was seen in 30% of sacrococcygeal teratomas and in 46% of chorioangiomas, but in none of the pulmonary sequestration cases. Adverse pregnancy outcome occurred in 11 cases (three stillbirths, three neonatal deaths and five cases of developmental delay) and only in those cases in which the tumors were associated with a CVPS of ≤ 8. CONCLUSIONS: Certain fetal and placental vascular tumors are associated with cardiac dysfunction in fetal life. When the CVPS is low (≤ 8), these cases are at increased risk of both fetal/neonatal demise as well as overt long-term neurodevelopmental disability. The long-term neurodevelopmental outcome should be formally and prospectively assessed in cases of fetal and placental vascular tumors.

Contemporary management of vascular malformations.

PURPOSE: To review the literature on vascular malformations and to clarify their diagnosis, clinical presentation, and treatment options. MATERIAL AND METHODS: The authors reviewed the current literature on vascular malformations looking for more innovative and credited diagnostic criteria and treatment protocols. RESULTS: The review is divided in 4 sections (capillary, venous, arteriovenous, and lymphatic malformations). In each section, the clinical presentation, radiologic features, and treatment options for each kind of vascular malformation are described. The experience and results of the authors also are presented. CONCLUSIONS: Vascular malformations are a heterogeneous group of diseases. Each type of malformation has unique features that make it largely different from the others. Only a clear and correct diagnosis can lead to optimal results.

Rapidly involuting congenital hemangioma: a case of complete prenatal involution.

We report a case of rapidly involuting congenital hemangioma of the flank, which was diagnosed in the 2(nd) trimester of gestation and showed complete involution before term. In our case sonography revealed a highly vascular soft tissue mass with smooth contours, which was isointense with the placenta on T2-weighted MR images. The fetus was born with scar tissue at the site of the lesion. To our knowledge this is the 1(st) reported case of rapidly involuting congenital hemangioma showing complete involution before term.

Vasculogenesis in infantile hemangioma.

Infantile hemangioma is a vascular tumor that occurs in 5-10% of infants of European descent. A defining feature of infantile hemangioma is the dramatic growth and development into a disorganized mass of blood vessels. Subsequently, a slow spontaneous involution begins around 1 year of age and continues for 4-6 years. The growth and involution of infantile hemangioma is very different from other vascular tumors and vascular malformations, which do not regress and can occur at any time during childhood or adult life. Much has been learned from careful study of the tissue morphology and gene expression patterns during the life-cycle of hemangioma. Tissue explants and tumor-derived cell populations have provided further insight to unravel the cellular and molecular basis of infantile hemangioma. A multipotent progenitor cell capable of de novo blood vessel formation has been isolated from infantile hemangioma, which suggests that this common tumor of infancy, long considered to be a model for pathologic angiogenesis, may also represent pathologic vasculogenesis. Whether viewed as angiogenesis or vasculogenesis, infantile hemangioma represents a vascular perturbation during a critical period of post-natal growth, and as such provides a unique opportunity to decipher mechanisms of human vascular development.

Congenital neck masses.

Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

Imminent fetal cardiac tamponade by right atrial hemangioma.

A fetus presented with a large pericardial effusion caused by a right atrial transmural tumor. Correct prenatal diagnosis by use of targeted fetal echocardiography indicated that treatment was not required until the gestational age of 36 weeks. At that time, cesarean section was performed because early signs of imminent cardiac tamponade developed ("swinging heart"). At birth, the pericardial effusion was drained with a percutaneous drain. Elective surgical resection was performed on day 6 of life. Histologically, the tumor was a benign capillary hemangioma.

Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development.

OBJECTIVES: Large facial infantile hemangiomas have higher rates of complications than small localized hemangiomas, more often require treatment, and can be associated with neurological, ophthalmologic, and cardiac anomalies (PHACE syndrome). The anatomic patterns of these hemangiomas are often referred to as "segmental" despite a lack of precise anatomic definitions. Our study aims to define "segmental" hemangiomas based on clinically observed patterns. Our secondary goal is to relate the observed patterns to currently accepted developmental patterns to gain insight into hemangioma pathogenesis and craniofacial development. METHODS: Photographic data were extracted from a large cohort of patients with infantile hemangiomas. We mapped 294 hemangiomas and recorded common morphologic patterns. Anatomic descriptions of the most common patterns were described and compared with accepted concepts of craniofacial development. RESULTS: Four primary segments were identified (Seg1-Seg4). Seg2 and Seg3 correspond with the previously recognized maxillary and mandibular prominences. Seg1 and Seg4 differ from standard human embryology texts. The frontotemporal segment, Seg1, encompasses the lateral forehead, anterior temporal scalp, and lateral frontal scalp. The segment Seg4, encompassing the medial frontal scalp, nasal bridge, nasal tip, ala, and philtrum, is substantially narrower on the forehead than the previously described frontonasal prominence. CONCLUSIONS: The patterns provide new clues regarding facial development. The observed patterns resemble previously described facial developmental units on the lower face but are distinctly different on the upper face. The patterns suggest that neural crest derivatives may play a role in the development of facial hemangiomas. Finally, these patterns (Seg1-Seg4) help standardize the nomenclature of facial segmental hemangiomas to analyze more effectively hemangioma risks and behavior.

The pathogenesis of hemangiomas: a review.

LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Differentiate between hemangiomas and vascular malformations. 2. Describe arguments for the trophoblast origin of hemangiomas. 3. Give arguments for the angioblast theory for the origin of hemangiomas. 4. Identify key genes involved in the origin of hemangiomas. BACKGROUND: Hemangiomas of infancy are common endothelial tumors. They differ from vascular malformations in their tissue architecture and biological properties. To date, there is no universally accepted theory that explains the pathogenesis and pathophysiology of hemangiomas. METHODS: Theories from the medical literature from 1981 to 2004 were gathered, categorized, and reviewed. RESULTS: Current research is mostly on the cellular and genetic levels. The most authoritative theories focus on angioblast origins, trophoblast origins, mutations in cytokine regulatory pathways, and field defects as the cause of the deranged angiogenesis of hemangiomas. CONCLUSIONS: To date, no single theory can easily explain all the characteristics of hemangiomas, such as predilection for the female sex, usual occurrence after birth, spontaneous involution, abnormal tissue architecture, and distribution within a developmental field. Hemangiomas are probably the final common expression of several pathophysiological mechanisms taking effect alone or in combination.

Three-dimensional power Doppler (3DPD) ultrasound in the diagnosis and follow-up of fetal vascular anomalies.

OBJECTIVE: This study was undertaken to examine the value of 3-dimensional power Doppler (3DPD) ultrasound imaging in diagnosis and follow-up of fetal vascular anomalies. STUDY DESIGN: In 174 women undergoing early second-trimester targeted organ scanning, followed by a midtrimester second scan in a university hospital setting, 3DPD was applied to the fetal intra-abdominal and intrathoracic vessels. RESULTS: In 137 of 174 fetuses (75%) in the earlier scan, and in 164 of 174 fetuses (95%) in the later scan, 3DPD ultrasound successfully visualized the fetal vessels. In an additional 9 cases, anomalous vascularity was identified: fetal intra-abdominal umbilical vein varix (2), persistent right umbilical vein (1), agenesis of ductus venosus (2), eventration of diaphragm (1), parenchymal and vascular lung anomaly (1), sacrococcygeal teratoma (1), and chorioangioma (1). 3DPD improved diagnostic precision, aided our understanding of anomalous structure, and added information on the vascular volume of lesions in some cases. CONCLUSION: 3DPD improved ultrasound visualization of the fetal vessels of the abdomen and thorax in normal and anomalous cases.