Abstract
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.