Background
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is a rare autosomal dominant syndrome occurring in approximately 1:3,000 births (1). It is due to gene mutation of proximal long arm of chromosome 17 with the loss of neurofibromin protein, that is involved in activation protein for RAS (4). The mutation is sporadic in about 50% of cases. The diagnosis is performed by clinical criteria according to NIH criteria (2) or by molecular study (3). NF1 is prevalently associated with histologically benign tumors of the peripheral and central nervous system with variable clinical expressions.
The aim of this paper is to describe the complex counseling in a woman with NF1 and HIV infection diagnosed at the beginning of her first gestation. The woman had four pregnancies and delivered three babies without HIV infection, two with signs of NF1. No maternal huge transformation of neurofibromas or malignant degeneration was evident in a seven years follow-up and HIV infection remained stable.