The carbohydrate-deficient glycoprotein syndromes (CDGS) make up a recently delineated group of inherited metabolic diseases that are characterized by a reduction of the carbohydrate content of glycoproteins. They were first described by Jaeken in two sisters in 1980, but it was only after a second report (Jaeken et al., 1991), of a group of 26 Belgian and Scandinavian patients, that the disease began to be recognized with increasing frequency all over the world (Eeg-Olofsson and Wahlstro ยจm, 1991;Hagberg et al., 1993;Petersen et al., 1993). At present, there are more than 200 known patients worldwide, both published and unpublished cases (Jaeken et al., 1997). Of the four types of CDGS described so far, all of which have an autosomal reces-sive pattern of inheritance, type I seems to be the most common (Jaeken and Carchon, 1993). About 80% of patients with type I have phosphomannomutase (PMM) deficiency (Van Schaftingen and Jaeken, 1995;Matthijs et al., 1996), and this subtype is now known as type 1A. Mutations in the PMM2 gene, which is located on chromosome 16p13, are the cause of this deficiency (Bjursell et al., 1997;Matthijs et al., 1997). Here we report on two sisters who are, to the best of our knowledge, the first patients with PMM deficiency reported from Latin America.
FL and AL, 5 and 3 years old, respectively, are the only children of non-consanguineous Peruvian parents. They have had similar clinical courses, with feeding problems, inadequate weight gain, developmental delay since birth, microcephaly, strabismus, elongated Fig. 1. The two sisters with CDGS-1. Notice strabismus, subtle facial anomalies, and inverted nipples.