Aspartylglucosaminuria in a Tunisian family

We report on the first 4 cases of aspartylglucosaminuria [AGU] diagnosed in Tunisia. Four siblings with the clinical and laboratory findings of AGU were the products of a first cousins' mating. The index case was a 20 month old male who presented with heart failure and coarse features. He had a slow psychomotor development and skeletal changes consistent with numerous changes in small bones. Enzymatic essays in cultured skin fibroblasts showed aspartylglucosaminidase deficiency. His 2 sisters and his brother were 11, 3 and 8 1/2 years of age, respectively and also presented a slow psychomotor development and dysmorphia