Devi A S, Eisenfeld L, Uphoff D, Greenstein R
Department of Pediatrics, University of Connecticut Health Center, Farmington, USA.
Am J Med Genet. 1995 Mar 13;56(1):62-6. doi: 10.1002/ajmg.1320560114.
We report on two unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, who died at 4 months of age. Both mothers reported an upper respiratory infection during the first trimester of pregnancy which was further complicated by polyhydramnios in the third trimester. The infants were diagnosed with bilateral congenital nuclear cataracts at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia screens were negative. Chromosome analyses were normal. Both children developed communicating hydrocephalus between one and three months after birth. Patient 1 died suddenly at 4 months 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. We discuss the association of birth defects in widely separated organ systems in these patients and suggest that this may represent a genetic syndrome; however, a viral etiology cannot entirely be excluded. We believe this is a distinct disorder and propose the acronym HEC for hydrocephalus, EFE and cataracts.
