Corsello Giovanni, Costantini Elisa, Sciveres Marco, Figuccia Adele, Maggio Maria Cristina
University Department PROMISE "G. D'Alessandro", University of Palermo, Via del Vespro 129, Palermo, 90100, Italy.
Hepatology and Liver Transplant Unit IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy.
Ital J Pediatr. 2025 Jul 1;51(1):200. doi: 10.1186/s13052-025-02027-2.
Infantile hepatic haemangiomas are benign liver tumours, with growth and regression phases of the tumour, corresponding to those of infantile cutaneous haemangiomas. The classification and the pathogenesis need further insights. Though most infantile hepatic haemangiomas are asymptomatic, some patients show severe complications, such as high-output congestive cardiac failure, anemia, thrombocytopenia, consumptive coagulopathy, liver failure and consumptive hypothyroidism. A fatal clinical evolution is described in some patients. The heterogeneity of the lesion's diffusion and of the disease-related comorbidities make the treatment challenging. The treatment with oral propranolol is effective and allows symptoms regression.
We report the case of a two-month-old female with the first diagnosis of late-onset congenital hypothyroidism, associated to unexplained anemia and significant increase of transaminases and gamma-GT. She promptly started treatment with levothyroxine (10 mcg/kg/day). To identify the etiology of hypothyroidism, anemia and increased liver enzymes, she underwent an abdominal ultrasound, that evidenced infantile diffuse hepatic hemangiomatosis, confirmed by abdominal MRI. Brain MRI showed a few millimetric areoles, compatible with microangiomas. The patient needed a significant increase of levothyroxine dosage, reaching a difficult normalization of TSH, fT4 and fT3. Ten days after the start of treatment with propranolol, a significant reduction in liver hemangiomatosis occurred, confirmed by the reduction of alpha-fetoprotein, AST, ALT, gamma -GT and TSH levels. The patient required a progressive reduction of levothyroxine dose, with the improvement of hematologic parameters. The child's auxological growth and neuromotor development occurred in an age-appropriate manner.
In the case described hereby, complications such as anemia, hypothyroidism, hepatomegaly, and impaired liver function, required to start therapy with propranolol, with the improvement of clinical and laboratory parameters. High-dose levothyroxine replacement therapy is mandatory to preserve the neurological development that occurs when hypothyroidism is inadequately treated throughout the proliferative phase of haemangiomas. In fact, the prognosis is strongly determined by the early identification of haemangiomatosis as the cause of hypothyroidism and of the other complications. Systemic impairment in early phases may be very subtle, requiring a prompt diagnosis and a multidisciplinary approach to undertake appropriate therapy and prevent short- and long-term sequelae.
婴儿肝血管瘤是良性肝脏肿瘤，其肿瘤有生长和消退阶段，与婴儿皮肤血管瘤的阶段相对应。其分类和发病机制需要进一步深入研究。尽管大多数婴儿肝血管瘤无症状，但一些患者会出现严重并发症，如高输出量充血性心力衰竭、贫血、血小板减少、消耗性凝血病、肝功能衰竭和消耗性甲状腺功能减退。一些患者有致命的临床进展。病变扩散及疾病相关合并症的异质性使得治疗具有挑战性。口服普萘洛尔治疗有效，可使症状消退。
我们报告一例两个月大的女性患儿，最初诊断为迟发性先天性甲状腺功能减退症，伴有不明原因的贫血以及转氨酶和γ-谷氨酰转移酶显著升高。她立即开始接受左甲状腺素治疗（10微克/千克/天）。为确定甲状腺功能减退、贫血和肝酶升高的病因，她接受了腹部超声检查，结果显示为婴儿弥漫性肝血管瘤病，并经腹部磁共振成像确诊。脑部磁共振成像显示有几毫米大小的小病灶，符合微血管瘤表现。该患者需要大幅增加左甲状腺素剂量，才能使促甲状腺激素（TSH）、游离甲状腺素（fT4）和游离三碘甲状腺原氨酸（fT3）艰难地恢复正常。在开始使用普萘洛尔治疗十天后，肝脏血管瘤病显著减轻，甲胎蛋白、谷草转氨酶（AST）、谷丙转氨酶（ALT）、γ-谷氨酰转移酶和TSH水平降低证实了这一点。患者所需的左甲状腺素剂量逐渐减少，血液学参数得到改善。患儿的体格生长和神经运动发育符合其年龄阶段。
在此所述病例中，贫血、甲状腺功能减退、肝肿大和肝功能受损等并发症需要开始使用普萘洛尔治疗，以改善临床和实验室参数。在血管瘤增殖期甲状腺功能减退未得到充分治疗时，必须进行高剂量左甲状腺素替代治疗以保护神经发育。事实上，预后很大程度上取决于早期将血管瘤病确定为甲状腺功能减退及其他并发症的病因。早期阶段的全身损害可能非常隐匿，需要及时诊断并采取多学科方法进行适当治疗，以预防短期和长期后遗症。
