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.