Neurofibromatosis type 1.

Abstract

Neurofibromatosis Type 1, formerly known as Von Recklinghausen disease, is caused by a genetic disorder on chromosome 17. The incidence is 1 in 3,000 newborns and the prevalence is 1 in 50,000 inhabitants. Clinically it is characterized by the presence of café-au-lait spots, cutaneous neurofibromas, bone and neurological alterations.

The clinical case of a 42-year-old female patient with no pathological history is presented, who comes to the emergency department with a clinical picture that leads to musculoskeletal pathology. Spinal imaging studies report a hipointensa, homogeneous image suggestive of neurofibroma. Establishing as a diagnosis based on the clinical picture and paraclinical studies Neurofibromatosis type 1.

The patient is referred to a more complex hospital for surgical resolution, which during the postoperative period produces respiratory failure secondary to Nosocomial Pneumonia with subsequent death.

Conclusions: The present clinical case reports an unusual case of neurofibromatosis, with a bibliographic review on the subject.