Neurofibromatosis is a collective name for a group of genetic conditions in 
which benign tumours affect the nervous system. Type 1 is caused by a genetic 
mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically 
between individuals, even within the same family. Some people have very mild 
skin changes, whereas others suffer severe medical complications. The condition 
usually appears in childhood and is diagnosed if two of the following are 
present: six or more café-au-lait patches larger than 1.5 cm in diameter, 
axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in 
the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone 
dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The 
pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 
'sporadic' and there is no family history. Neurofibromatosis type 1 is an 
extremely variable condition whose morbidity and mortality is largely dictated 
by the occurrence of the many complications that may involve any of the body 
systems. We describe a family affected by NF1 in whom genetic molecular analysis 
identified the same mutation in the son and father. Routine MRI showed pontine 
focal lesions in the eight-year-old son, though not in the father. We performed 
a four years follow-up study and at follow-up pontine hamartoma size remained 
unchanged in the son, and the father showed still no brain lesions, confirming 
thus an intra-familial phenotype variability.