Contrast-Enhanced Ultrasound of Congenital and Infantile Hemangiomas: Preliminary Results From a Case Series.

OBJECTIVE. The contrast-enhanced ultrasound (CEUS) imaging features of hepatic vascular tumors in infants, including infantile hemangioma (IH) and congenital hemangioma (CH), are not well reported. Frequent inaccurate use of lesion terminology in the literature has created diagnostic confusion. The purpose of this study is to describe the CEUS features of IH and CH. MATERIALS AND METHODS. Ten patients, ranging in age from 8 days to 16 months, with hepatic vascular tumors were included for retrospective analysis. Gray-scale ultrasound, color Doppler ultrasound, and CEUS features were reviewed, and interobserver kappa coefficients were calculated. Final diagnoses were clinically determined by a pediatrician with expertise in vascular anomalies except in one patient who underwent surgical excision. RESULTS. Of the 10 patients, five had CHs and five had IHs. All 10 lesions were hyperenhancing in the early arterial phase. In the portal venous phase, four of five (80%) CHs showed hyperenhancement relative to normal liver parenchyma, whereas four of five (80%) IHs showed isoenhancement. In the late phase, washout of contrast material was seen in three of five (60%) IHs, whereas one IH remained isoenhancing and one IH was hyperenhancing. None of the CHs showed late washout. Interobserver kappa coefficients for CEUS features ranged from 0.60 to 1.00. CONCLUSION. Except for the CEUS feature portal venous phase enhancement (κ = 0.60), good to excellent (κ = 0.74-1.00) agreement about CEUS features of IHs and CHs was observed. A significant proportion of IHs (60%) showed washout at delayed phase imaging, which has also been reported with malignancies. Recognition of the overlap in imaging appearance of these two entities is vital to preventing misdiagnosis of malignancy.

Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome.

Following the discovery of a fetal hepatic tumor, labor was induced at 38 weeks, and a phenotypically normal female was delivered vaginally. A serum alpha-fetoprotein level at birth was 373,170 ng/mL. Postnatal magnetic resonance imaging confirmed a mass in the right lobe of the liver, and a percutaneous core biopsy revealed an epithelial type hepatoblastoma with predominantly embryonal histology. Methylation testing revealed hypomethylation at imprinting center 2, consistent with a diagnosis of Beckwith-Wiedemann syndrome. This case suggests that Beckwith-Wiedemann syndrome testing should be considered in all patients with hepatoblastoma, even in the absence of other phenotypic stigmata.

Metastatic Choriocarcinoma Masquerading as a Congenital Glabellar Hemangioma.

Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon. The initial clinical impression of infantile hemangioma led to an initial treatment with propranolol. However, the mass continued to enlarge and a biopsy was obtained. Histology revealed a high-grade, poorly differentiated carcinoma. A robust immunohistochemical battery demonstrated tumor reactivity with Glut-1, GATA3, Glypican-3, CAM5.2, and ß-hCG establishing the diagnosis of metastatic choriocarcinoma. The diagnosis was further supported by the elevated serum ß-hCG. In addition to the glabellar mass, imaging demonstrated tumor foci in the liver and lung. Clinical investigation of the mother revealed no evidence of disease.

Clinically significant ascites as an indication for resection of rapidly involuting congenital hepatic hemangiomas.

Hepatic hemangiomas are the most common benign liver tumor of infancy and are divided into two main types: rapidly involuting congenital hemangiomas (RICH) and non-involuting congenital hemangiomas. RICH typically involute by 12 months and are often asymptomatic. Surgical resection is rare. Indications for surgical resection include rupture, rapid growth, consumptive coagulopathy, and abdominal pain. We present two patients from different institutions who both developed clinically significant ascites as the RICH involuted, prompting surgical resection. This is a new indication for resection.

Congenital hemangiomas.

Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

Hepatoblastoma and hypoplastic kidneys: a new association.

Both hepatoblastoma and hypoplastic kidneys are rare in children. A review of all patients with hepatoblastoma treated at our institution between 1993 and 2011 revealed three cases of hepatoblastoma occurring in children with hypoplastic kidneys and significantly impaired renal function. Two patients were treated with doxorubicin-based therapy without cisplatin. One was treated with carboplatin. The former two are long-term survivors while the third patient died of sepsis following chemotherapy. This association is unlikely due to chance alone and chemotherapy regimens without cisplatin may be effective in treating these children.

Outcomes for patients with congenital hepatoblastoma.

BACKGROUND: Congenital hepatoblastoma, diagnosed in the first month of life, has been reported to have a poor prognosis; however, a comprehensive evaluation of this entity is lacking. PROCEDURE: We retrospectively reviewed two patients from the senior authors' personal series and 25 cases identified in the databases of several multicenter group studies (INT-0098, P9645, 881, P9346, HB 89, HB94, and HB 99). We compared this series with cases of congenital hepatoblastoma previously published in the literature. RESULTS: The 3-year survival in our case series was 86% (18/21) with a follow-up of 44-230 months (median 85.5 months). Presentation and treatment were not substantially different from hepatoblastoma cohorts unselected for age. Survival was comparable to the reported disease free survival for a similar cohort of hepatoblastoma patients unselected for age between 1986 and 2002 (82.5%) [von Schweinitz et al., Eur J Cancer 1997; 33:1243-1249]. The 2-year survival of cases reported in the literature was 0% (0/9) and 42% (10/24) for patients reported before and after 1990, respectively. CONCLUSIONS: Congenital hepatoblastoma does not appear to confer a worse prognosis. The improved survival of our current series of patients, collected from the past 20 years of German and American multicenter trials and personal series, suggests that the outcome of hepatoblastoma at this young age is much better than has been historically reported. More rigorous analysis should be conducted in future multicenter trials. It is possible that congenital hepatoblastoma should be treated like all other patients with hepatoblastoma provided that the child is stable enough to proceed with surgery and chemotherapy.

Prenatal diagnosis of a liver cavernous hemangioma.

Liver tumors seldom occur in the perinatal period. Hepatic hemangiomas are the most common tumors of the liver diagnosed during fetal and neonatal life. The diagnosis can be suspected antenatally by ultrasound and MR scan. The differential diagnosis is often challenging. While small hepatic hemangiomas are usually asymptomatic, large tumors can lead to complications such as high-output congestive heart failure, consumptive thrombocytopenic coagulopathy and hemorrhage after tumor rupture. We describe a case of hepatic hemangioma presenting as a solid abdominal mass with several cystic areas on an obstetric ultrasound and report on the contribition fetal MR imaging to the diagnosis.

Rapidly involuting congenital haemangioma (RICH) of the liver.

BACKGROUND: Rapidly involuting congenital haemangioma (RICH) is a benign neoplasm that may occur in many locations in the body. When RICH occurs in the liver, it may be confused with other lesions. OBJECTIVE: To present a case series from a single institution. MATERIALS AND METHODS: Retrospective review of pathological and imaging findings in infants with biopsy-proven hepatic RICH treated at a single hospital. RESULTS: Four children (2 days to 6 weeks of age) presented between 2002 and 2007 with a solitary hepatic lesion. Needle biopsy excluded the alternative possibility of infantile haemangioma by showing negativity for GLUT1. Serial imaging confirmed rapid involution in each child. CONCLUSION: RICH should be suspected in neonates who present with a solitary liver lesion and normal-for-age serum alpha-fetoprotein. Serial US scans should be used to confirm a progressive shrinkage of the lesion. Corticosteroids and ß2-adrenergic antagonists have no proven effect in treating RICH. If the lesion grows, percutaneous needle biopsy is recommended to exclude a malignant tumour and to direct further management. Infants with cardiac failure should be treated medically. Embolization (with or without needle biopsy) should only be performed when this strategy fails.

Hepatic haemangioma-prenatal imaging findings, complications and perinatal outcome in a case series.

BACKGROUND: The clinical presentation of foetal hepatic haemangioma (HH) is highly variable, from asymptomatic to life-threatening. OBJECTIVE: The aim of this study was to describe foetal hepatic haemangioma and identify prognostic factors. MATERIALS AND METHODS: Antenatal and postnatal imaging studies, clinical and biological records of infants with antenatally diagnosed HH (2001-2009) were reviewed. RESULTS: Sixteen foetuses had one focal lesion, with a mean volume of 75 ml (5-240 ml). One had multifocal HH. Most presented as a focal well-delimited heterogeneous vascular mass. Four had associated cardiomegaly, five had cardiac failure. Eight of the nine foetuses with cardiac disorders were symptomatic at birth: cardiac failure with pulmonary hypertension (9), consumptive coagulopathy (8), compartmental syndrome (2). All received supportive medical treatment, four embolisation. Five of these died. The remaining eight had a normal cardiac status. Two became symptomatic after birth: one with a large porto-hepatic shunt and one with significant mass effect. Prenatal cardiac abnormality (univariate, P = 0.031), enlargement of more than one hepatic vein (P = 0.0351) and large volume (P = 0.0372) were associated with symptomatic disease. CONCLUSION: Hepatic haemangioma associated with prenatal cardiac disorders, large volume and more than one enlarged hepatic vein have poorer outcome and require specific perinatal multidisciplinary management.

Congenital neuroblastoma: an autopsy report.

Neuroblastoma (NB) is the foremost malignant neoplasm of the fetus and neonate. It has a distinct biologic behavior and varied clinical manifestations. The perinatal tumors are most frequently associated with a favorable outcome. We describe an autopsy case of a 2-day-old baby with congenital NB of the left adrenal with extensive metastatic deposits in the liver. Despite the tumor having a favorable histology, it proved to be fatal with death occurring on the second day of life.

Recanalized umbilical vein as a conduit for mesenterico/porto-Rex bypass for patients with extrahepatic portal vein obstruction.

PURPOSE: Mesenterico-left portal vein (meso-Rex) bypass is as an effective modality for restoring intrahepatic portal perfusion in patients with extrahepatic portal vein obstruction. Achieving sufficient patency is difficult with end-to-side anastomosis of a bypass graft to a small or hypoplastic left portal vein in the Rex recessus. Here, we describe the use of a recanalized umbilical vein in the round ligament as a conduit for bypass construction in two patients. METHODS: Case 1 was an 11-year-old boy diagnosed with rupture of the esophageal varices and hypersplenism due to congenital extrahepatic portal hypertension. Because of persistent hypersplenism and thrombocytopenia, he underwent meso-Rex bypassing with a left iliac vein graft interposed between the umbilical vein and the superior mesenteric vein. Case 2 was a neonate with a large hepatic tumor (mesenchymal hamartoma) that developed abdominal compartment syndrome at birth. The tumor was removed by right hepatectomy with excision of the portal vein bifurcation at 3 days of age. Porto-Rex bypassing was accomplished by end-to-end anastomosis between the portal vein trunk and the umbilical vein. RESULTS: Sufficient hepatopetal portal flow through the umbilical vein was achieved in both patients and maintained for over 16 and 13 months, respectively. Although hypersplenism remained in Case 1, intrahepatic portal vein branches gradually widened and the cavernoma in the hepatic hilum disappeared within 2 months. Neither patient had symptoms or signs of portal hypertension at the most recent follow-up. CONCLUSION: Using the umbilical vein as a vein conduit may facilitate construction of a meso/porto-Rex bypass and restore intrahepatic portal vein perfusion in patients with extrahepatic portal vein obstruction.

Pre- and postnatal imaging of a congenital hepatoblastoma.

Prenatal ultrasound, magnetic resonance imaging and matching postnatal computer tomography imaging findings are presented in a neonate with histologically proven congenital hepatoblastoma. Familiarity with the prenatal imaging findings of a hepatoblastoma are essential to make a reliable, specific diagnosis facilitating decision-making about the pre-, peri- and postnatal management.

A Case of Congenital Hepatoblastoma Coexisting with Pulmonary Hypertension.

Hepatoblastoma (HBL) is the most frequently detected malignant tumor of the liver in childhood. HBLs detected antenatally or up to 3 months after birth are considered congenital HBLs. We report a five-day-old female infant in whom a hepatic mass was detected at 20 weeks' gestation. At birth (36 weeks), the hepatic mass measured 12x6 cm, and she had respiratory distress. Pulmonary hypertension (PHT) was detected on echocardiographic evaluation. Despite dual medical therapy, her PHT did not improve. Histologically, the biopsy demonstrated a mixed epithelial-mesenchymal HBL with predominance of fetal morphology in the epithelial component. Chemotherapy was initiated on postnatal day 15; however, the baby died of respiratory failure on postnatal day 23. Conclusion: HBL is an embryonal tumor which can develop early in the intrauterine period. Although the mechanism is not known, it may cause PHT which would affect the prognosis negatively.

Congenital liver hemangioma revealed by cholestasis syndrome: report of a rare case.

Our paper reports a case of hepatic angioma revealed by neonatal cholestasis, thing that has never been reported in the literature to our knowledge. A newborn boy of 25 days of life had cholestatic jaundice since his fifth day of life. During its health assessment, the angioscan detected the presence of multiple hepatic agiomas. The rest of the etiological report returned without any anomaly. Beta-blockers were started with a very good clinical and ultrasonographic evolution after 12 months of treatment.

Computed tomography imaging and clinical features of congenital hepatoblastoma: A retrospective analysis.

Congenital hepatoblastoma (CHB) is the most common hepatic malignant tumor of fetus or neonates, but few studies focusing on the radiological characteristics of CHB have been reported to date.To investigate the characteristic clinical and computed tomography (CT) findings of CHB to facilitate recognition and noninvasive diagnosis.Medical records of 7 patients with CHB were retrospectively reviewed. The demographic, clinical, and laboratory data were extracted from the electronic medical records. Two pediatric radiologists evaluated the abdominal CT examinations for the hepatic tumor location, size, enhancement characteristics, vascular invasion, and intra-/extra-hepatic metastasis.Among the included 7 patients (3 males and 4 females), only 1 had an elevated serum alpha-fetoprotein level. All patients had solitary intrahepatic mass with a mean size of 4.7 cm (range: 2.9-10.2 cm), of which liver SV-VII were most involved. 4/7 tumors were round while 3/7 irregular or lobulated. 6/7 tumors were well-defined. Microhemorrhage, cystic necrosis, and coarse calcification were present in 5/7, 4/7, and 1/7 tumors, respectively. All lesions showed inhomogeneously significant enhancement, with multiple nodular or striped appearance in the center and periphery of the tumors on the arterial phase, and then the enhancement area showed progressive expansion and fusion filling over time but the attenuation gradually declined on the portal and delayed phases, and finally the majority (6/7) of tumors presented multiple band- or island-like characteristics with prominently peripheral enhancement on the delayed phase while the remaining 1 relatively small tumor showed nearly complete but inhomogenous enhancement. In addition, only 1/7 tumor had hilar hepatic bile duct and portal vein invasion and secondary intra-hepatic bile duct dilation. No metastatic lesions were identified in all patients at diagnosis. The abdominal aorta distal to the coeliac trunk was significantly narrowed in 3/7 patients. Pathological examinations suggested that 6/7 tumors showed fetal histology with only 1 containing mesenchymal elements.The relationship between serum alpha-fetoprotein and CHB could be more complicated and yet to be determined. Dynamic contrast-enhanced CT can facilitate recognition and noninvasive diagnosis of CHB, presenting a pattern of progressive expansion and fusion filling but inhomogeneously significant enhancement.