乳幼児肝巨大血管腫

BACKGROUND: Pediatric hepatic angiosarcoma (HAS) is poorly understood. The lack of effective therapies for unresectable pediatric liver tumors creates a clinical imperative, positioning liver transplantation (LT) as a pivotal modality for exploring the roadmap to prolonged survival. CASE DESCRIPTION: We report the first Chinese pediatric case of HAS treated with LT. A 2-year-old boy was admitted to hospital due to abdominal pain and distension. Imaging findings were suggestive of possible malignancy, but initial biopsy yielded a diagnosed infantile hepatic hemangioma (IHH). Following living-donor LT for unresectable disease, explant pathology revealed an angiosarcoma arising within a hemangioma. The patient ultimately died from metastasis 21 months after LT. Our review of pediatric LT for liver tumors over 15 years identified nine pediatric HAS cases, only one of whom was correctly diagnosed pre-LT, with survival ranging from 3 to 66 months. Regarding other tumors, six cases of IHH were reported prior to 2010, without survival data. Recent studies on hepatoblastoma (HB) report a 5-year overall survival (OS) of 80-90%, and the prognosis for hepatocellular carcinoma (HCC) has markedly improved, with a combined 5-year OS of 74%. In the largest reported study, the 5-year OS rates for hepatic epithelioid hemangioendothelioma (HEH) and hepatic undifferentiated embryonal sarcoma (HUES) were 60.6% and 90.0%, respectively. Evidence for biliary tract rhabdomyosarcoma (BT-RMS) and malignant rhabdoid tumor (MRT) of the liver are anecdotal, and no pediatric cases of primary hepatic kaposiform hemangioendothelioma (KHE) treated with LT have been reported. CONCLUSIONS: Pediatric HAS is rare and difficult to distinguish from IHH; contrast-enhanced computed tomography/magnetic resonance imaging (CT/MRI) aids differentiation. For suspected malignant transformation, contrast-enhanced ultrasound (CEUS) and ultrasound-guided multi-site biopsy are recommended. No standardized treatment exists for pediatric HAS. Given the poor long-term survival, LT or combined chemotherapy remains exploratory but is the only option for unresectable tumors. The high survival rates of LT for HB and HCC offer a promising blueprint. With advances in surgical techniques and increased living donor availability, pediatric LT deserves more attention.

Infantile hemangioendothelioma is the most common benign mesenchymal tumor of the liver and usually occurs within the first six months of life. Although serum alpha-fetoprotein is a significant tumor marker in cases of hepatoblastoma, hepatocellular carcinoma and germ cell tumors, elevated levels are rarely observed in patients with infantile hepatic hemangioendothelioma. In such cases, given that the differential diagnoses have different prognoses, accessible diagnostic options should be sought in order to to guide clinical management. The exact cause of alpha-fetoprotein elevation in hemangioendothelioma has not yet been clarified, although some studies have shown that hepatocytes trapped near the tumor are responsible for the increased serum levels. In this paper, we describe a clinical case of solitary infantile hepatic hemangioendothelioma as a rare clinical presentation with elevation of this tumor marker.

Infantile hemangioma (IH) is a benign vascular tumor that occurs in neonates. Cutaneous IHs that are left untreated can result in permanent scarring and residual lesions. The presence of multiple cutaneous IHs can suggest visceral involvement and may require further workup. Management strategies for IH have evolved over the years. Originally, only life-threatening IHs were treated; however, recent literature has expanded our knowledge and supports several treatment options to reduce long-term sequelae. This review highlights recent literature on the epidemiology, pathogenesis, clinical presentation, differential diagnosis, complications, and treatment options for patients with IH. A PubMed literature search was performed using the keywords "infantile hemangioma", "residual lesion", and "sequelae", focusing on English-language articles published within the last 10 years.

Infantile hepatic hemangioma (IHH) can cause severe complications such as high-output cardiac failure and growth faltering, requiring prompt diagnosis and intervention. In the absence of standardized treatment guidelines, propranolol has emerged as an effective and well-tolerated therapy. We report a female infant with multifocal IHH who presented with high-output cardiac failure, hepatomegaly, and growth faltering. She experienced rapid and sustained clinical as well as radiologic improvement with propranolol therapy. This case reinforces propranolol's role as a safe, effective first-line therapy for symptomatic IHH and underscores the importance of early multidisciplinary care.

BACKGROUND: Infantile hepatic haemangioma is a common benign vascular malformation in the liver, however, its association with Kasabach-Merritt syndrome, raised intrabdominal pressure and intestinal obstruction is rare. We report this case of syndromic infantile hepatic haemangioma to raise awareness for its suspicion in this unusual presentation and the role of propranolol in the management. CASE SUMMARY: We report a case of a 3-month-old female who presented with abdominal swelling, difficulty in breathing, constipation, bilateral inguinal swellings and protrusion of the rectal mucosa. There were multiple cutaneous vascular lesions on the palms, chest and abdomen. Examination under mild sedation revealed multiple kernel-like nodules in the enlarged liver. She had thrombocytopenia and a computerised tomographic scan of the abdomen showed multiple rim enhancing hyperdense vascular lesions involving the entire liver. She was placed on oral propranolol with regression of the lesion and resolution of symptoms. CONCLUSION: Multiple Hepatic haemangiomas with Kasabach-Merritt syndrome can present with raised intrabdominal pressure and features of intestinal obstruction. This possibility should be considered particularly in infants also presenting with cutaneous vascular conditions. Conservative care with propranolol is an effective treatment option.