We present a case of Bõrjeson-Forssman-Lehmann syndrome characterized by the presence of hipogonadism, grotesque facies, microcephaly, large ears, obesity and convulsions. In addition to these findings, wich were detected also in the other patients described in the literature, the present patient showed hyperglycemia and aminoaciduria. In our opinion, the presence of these alterations and the poor evolution of the patient, with death occurring during the first year of life, may contribute to the amplification of the phenotypic spectrum of the Bõrjeson-Forssman-Lehmann syndrome.