Unusual osteopathy in a newborn

Abstract

A newborn baby presented with hyaline membrane disease, interstitial pneumonia, jaundice, hepatosplenomegaly, and unusual bone manifestations with lytic and sclerotic bone lesions and virtually absent periosteal reaction. He subsequently developed intracranial calcifications and mental retardation. The pneumonia and hepatosplenomegaly resolved. At the time of the delivery, a sibling was suffering from a severe undetermined viral infection. The clinical evolution of the disease and the radiologic findings led us to believe that this patient had a prenatal viral infection. The laboratory tests and the histologic picture of the bone biopsy supported the diagnosis.