A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma.

Background Although hepatic infantile hemangioma (IH) may correlate with consumptive hypothyroidism consequent to the overexpression of thyroid hormone inactivating enzyme by hemangioma cells, hypothyroidism has been rarely recognized in infants with cutaneous hemangioma. Case presentation A male infant born at 28 weeks of gestational age with an extremely low birth weight (775 g) developed a massive cutaneous hemangioma on his neck and severe abdominal distension. Imaging examinations detected a small mass lesion in the brain but no hepatic hemangioma. Laboratory findings at the age of 26 days revealed hypothyroidism. Although high-dose levothyroxine therapy failed to normalize the thyroid function, hypothyroidism improved and cutaneous hemangioma regressed after initiating propranolol therapy. Conclusions Our findings suggest that consumptive hypothyroidism should be considered as a critical comorbidity in patients with massive cutaneous IH. Propranolol therapy can effectively normalize thyroid function and cause hemangioma regression.

Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.

We studied the effects of L-carnitine supplementation at a small dose on the profiles of acylcarnitines in serum and urine, as well as the renal handling of acylcarnitines, in a patient with multiple acyl-coenzyme A dehydrogenation defect. After supplementation with L-carnitine at a dose of 20 mg/kg/day, the concentration of each acylcarnitine measured both in the serum and in the urine had increased significantly, with the exception of that of an acylcarnitine with a carbon chain length (C) of 8 (C8 acylcarnitine). The magnitude of increase in the concentrations of the acylcarnitines in the serum was not associated with chain length, whereas in the urine, the magnitude tended to be greater in proportion to the shortness of the chain length. The fractional excretions of C2-C5 acylcarnitines exceeded 100%, indicating that they were produced in, or transported across, renal tubular epithelial cells and secreted into the urine. These results indicate that supplementation with a relatively small amount of L-carnitine can enhance the renal excretion of accumulated short-chain-length acylcarnitines through tubular excretion, in addition to basic glomerular filtration.