Hepatic Hemangioendothelioma: A Rare Cause of Congenital Hypothyroidism

Excerpt

To the Editor: Hepatic hemangioendothelioma (HHE) is a benign vascular tumor of liver. Majority of affected children are asymptomatic but can develop serious complications like congestive heart failure, abdominal compartment syndrome, consumptive thrombocytopenia and consumptive hypothyroidism [1]. A 20-d-old, term, newborn baby girl of birth weight 3.06 kg presented to us with persistent jaundice and abdominal distension. Clinically baby had pallor, icterus and few small cutaneous hemangiomas over extremities. There was huge hepatomegaly but no splenomegaly. Auscultation revealed a grade II systolic murmur over second left intercostal space. The remaining physical examination was unremarkable. Investigations showed hemoglobin of 6.9 g/dL, for which she received one unit of blood transfusion. No evidence of ABO or Rh incompatibility was found. Sepsis screen, Torch screening, metabolic screening (for Galactosemia, Tyrosinemia, Niemann Pick, Gaucher disease, Mitochondrial and Peroxismal disorder) were negative. Liver function test (LFT) showed a Total Bilirubin of 19.58 mg/dL, (Unconjugated– 16.33 mg/dL, Conjugated– 3.25 mg/dL) and an elevated Gamma glutamyl transferase (GGT) (1064 U/L). Thyroid stimulating hormone (TSH) level was 100 mIU/L (normal 0.7–15.2 mIU/L), and free T4 was 0.9 ng/dL. The Alfa fetoprotein level was 11,215 ng/ml (normal 50–100,000 ng/ml). Ultrasonography of the thyroid gland and echocardiography were normal. Magnetic resonance imaging (MRI) of the abdomen revealed enlarged liver with multiple conglomerated hyperintense lesions measuring 1–3 cm, extensively involving all the lobes of liver with non-visibility of the intervening parenchyma, compatible with the diagnosis of diffuse liver hemangioendothelioma (Fig. 1). Baby was started on L-thyroxine at a dose of 11 mcg/kg/d but seeing no response dose was gradually escalated up to 25 mcg/kg/d. For regression of the tumor propranolol at 2 mg/kg/d, and prednisolone at 3 mg/kg/d were started. Follow up after 4 weeks showed regression in tumor size and normalization of TSH level. As such no guideline is available for the duration of treatment of HHE, prednisolone was tapered off after 4 weeks but L-thyroxine and propranolol were continued. Clinical findings, MRI findings and response to high dose L-thyroxine all suggested consumptive hypothyroidism due to HHE in our case.

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