Infantile hepatic hemangiomas (IHH) particularly the diffuse subtype, can in severe cases be associated with hepatic and cardiac failure, compartment syndrome, and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of longterm sequelae. Thyroid hormones are crucial for growth and neurodevelopment, with three to five IQ points lost for each month hypothyroidism remains untreated in the first year of life. This developmentally sensitive period parallels the proliferative phase of hemangiomas, and highlights a window of opportunity to screen for, and aggressively treat hypothyroidism in the context of diffuse IHH. We report a female twin conceived through in-vitro fertilization who presented aged eight weeks with systemic compromise and hepatomegaly in the absence of large or obvious cutaneous infantile hemangiomas (IH). Abdominal ultrasound showed innumerable hypoechoic nodules and increased vascularity within the liver, confirmed on CT and MRI. AFP was markedly elevated with associated derangement of her LFTs and coagulation profile. Findings were consistent with a diagnosis of diffuse infantile hepatic hemangiomatosis. Subsequent to this, assessment of her thyroid function confirmed consumptive hypothyroidism. She was promptly treated with oral propranolol at an initial dose of 1 mg/kg once daily in two divided doses, escalated to 2 mg/kg after five days. Treatment was well tolerated, with no adverse effects. At the same time, levothyroxine 9.6 micrograms/kg/day was commenced, with rapid improvement in her clinical parameters. This case reiterates the importance of investigating for consumptive hypothyroidism in an infant diagnosed with IHH, particularly when there is systemic compromise. Consultation with endocrinology for specialist management is imperative if growth and intellectual retardation are to be prevented. In accordance with a growing body of evidence, we advocate propranolol as a single first line treatment for IHH, supported by thyroid replacement when appropriate.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology