Congenital neurofibromatosis presenting as neonatal cerebral damage with hypsarrhythmia

Two sibs of a family known to have neurofibromatosis are described. The first manifestation of the disease was during the neonatal period, when severe cerebral involvement with hypotonia seizures and psychomotor retardation was noted. In one of the infants hypsarrhythmia developed, which responded to treatment with ACTH. This infant first developed cafe-au-lait patches at three weeks of age which then increased in number subsequently. Both infants died of bronchopneumonia at two and three months of age, respectively. These cases demonstrate the range of involvement of the CNS in neurofibromatosis. This condition should be considered in infants presenting with these symptoms in the newborn period.