Course of neurofibromatosis type 1 diagnosed in adult woman

Abstract

Neurofibromatosis type 1 (NF1, von Recklinghausen's disease) is one of phacomatoses -genetic disorders triggered by a mutation of a gene. In case of von Recklinghausen's disease the mutation has been recognized as the loss of function mutation of NF1 gene, that results in lack of neurofibromin. The disorder is usually diagnosed in early childhood since some of the symptoms are present in infants or even newborns. In some cases however, the symptoms appear in adulthood only when they might cause diagnostic problems. We present a study of a 32-year old female patient admitted to Pulmonology Department due to a found round mass in her left lung. Further diagnostics revealed other abnormalities and combined with the patient's physical findings the diagnosis of neurofibromatosis type 1 was made. This study presents further medical history of the given patient.