Hydrocephalus, Endocardial Fibroelastosis, And Cataracts

Devi et al. (1995) reported the cases of 2 unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. Both mothers reported an upper respiratory infection during the first trimester of pregnancy, which was further complicated by polyhydramnios in the third trimester. Bilateral congenital nuclear cataracts were present at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis, as well as galactosemia screen, were negative. Chromosome analyses were normal. Both children developed communicating hydrocephalus between 1 and 3 months after birth. Patient 1 died suddenly at 4 months of age following an upper respiratory infection. Patient 2 developed congestive heart failure and also died at 4 months. At autopsy, both infants had enlarged hearts with endocardial fibroelastosis. No identifiable organism could be isolated. Devi et al. (1995) favored a genetic etiology, although they admitted that viral etiology could not be excluded.