Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation

Clinical Features

In the son and daughter of consanguineous Arab parents, Lubani et al. (1991) observed cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency, megaloblastic anemia, and subnormal mentality. Warren and Marshall (1983) first identified Helicobacter pylori (previously known as Campylobacter pylori) in patients with chronic active gastritis. Although the association of findings in these sibs may have been coincidental, the possibility of a distinct autosomal recessive disorder associated with facies different from the rest of the family (including a broad nasal bridge and prominent ear lobules) led Lubani et al. (1991) to favor a new recessive syndrome.