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AbstractProopiomelanocortin (POMC) is the polypeptide precursor of several biologically active melanocortin peptides that have important roles in the regulation of food intake and energy homeostasis, adrenal steroidogenesis, melanocyte stimulation, and immune modulation. Mutation of the POMCgene has been associated with adrenal insufficiency, early-onset obesity, and red hair pigmentation. We describe an Indian boy with secondary hypocortisolism, hyperphagia, early-onset obesity, and skin pigmentation problem. Genetics analysis revealed a novel homozygous mutation in the POMCgene (p.Arg86Term). The boy also had central hypothyroidism in addition to the secondary hypocortisolism. Genetics analysis for the POMCgene should be considered in patients with secondary hypocortisolism, early-onset obesity, and pigmentary problems.

Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially fatal disease in childhood. The association of microangiopathic hemolytic anemia, schistocytes, and thrombocytopenia without fever, neurologic, and renal involvement is sufficient to suspect TTP at an early stage for prompt plasma infusion or exchange therapy. TTP has been increasingly described especially in association with systemic lupus erythematosus (SLE). We report the youngest Chinese boy who presented his SLE with TTP and subsequently experienced 9 relapses of TTP in a 2-year period.