Lithium for treatment of neutropenia in glycogen storage disease type Ib

Abstract

In addition to the characteristic clinical and biochemical features of glucose-6-phosphatase deficiency, patients with glycogen storage disease type Ib have varying degrees of granulocytopenia and impaired neutrophil function) Frequent cutaneous and mucocutaneous infections, predominantly with staphylococci, are common? Dietary therapy does not influence the neutropenia. Continuous prophylaxis with cotrimoxazole is recommended in neutropenic GSD-Ib? Some improvement of neutropenia in single cases of GSD-Ib has been reported during treatment with triamcinolone, hydrocortisone, or glucagon) Granulocytosis is a frequent side effect of lithium therapy for psychiatric disorders. 4 The stimulating effect of lithium salts on granulopoiesis has been used therapeutically in various idiopathic and congenital neutropenia syndromes, in neutropenia associated with Felty syndrome, and with chemotherapy:.5 In GSD-Ib, a positive effect of lithium on granulopoiesis has been demonstrated in vitro; lithium chloride enhanced the production of colony-stimulating factor, an essential modulator of granulocyte maturation, in cultured monocytes of a child with GSD-Ib. 6 Recently, Biihrdel et al. 7 found an amelioration of neutropenia as well as improved granulocyte maturation in bone marrow in a child with GSD-Ib. We report our experience with lithium treatment of severe neutropenia in a girl with GSD-Ib.