Neonatal neurofibromatosis: unusual manifestations with malignant clinical course

A family with neurofibromatosis is reported in which the proband was an infant in whom the diagnosis was established at birth. In this case, the presenting symptom was a large tumor of the tongue and macrocephaly. Cafe-au-lait spots appeared early, as did additional subcutaneous tumors, with skeletal involvement and severe psychomotor retardation. The rapid growth of the tumor, its spread within the mediastinum, neck and oral cavity, led to a strangulating death at one year of age. The disease originates from early embryonic involvement of the neural crest and from tissues derived from its caudal end. It is probably caused by a single pleiotropic gene transmitted as an autosomal dominant trait, with varying expression of the disease in different members of the same family.