Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine

Abstract

In a 7-year-old girl and a 12-year-old boy, with photosensitivity and hypertrichosis, the diagnosis of familial porphyria cutanea tarda was confirmed by the characteristic pattern of urinary porphyrin excretion, diminished erythrocyte uroporphyrinogen decarboxylase and elevated plasma porphyrin index with emission maxima at 617-618 nm. The patients were treated with a combination of low-dose oral chloroquine and oral S-adenosyl-L-methionine (SAM); in one case alkalinization of urine was also applied. Complete clinical and biochemical recovery was achieved within 3 months. No adverse ophthalmological or other side-effects were observed. We propose that the treatment of choice should be oral SAM (12 mg/kg/day) for 3 weeks and oral chloroquine (2 X 100 mg weekly) for about 120-150 days or until improvement of clinical and biochemical abnormalities is attained. So far no relapses have occurred. This combined therapy appears to be safe, simple, effective and very convenient for both patients and physicians.