Profile and Outcomes of Neurofibromatosis Type 1 (NF1) Patients in a Tertiary Government Hospital in the Philippines: A Retrospective Descriptive Study

Abstract

Background. Neurofibromatosis Type 1 (NF1) is a genetic disorder with a wide range of clinical manifestations, including skin changes, behavioral issues, and skeletal deformities. Despite being relatively common, there is a lack of local studies in the Philippines.

Objective. This study aimed to investigate profiles of individuals with NF1 seen at the Philippine General Hospital and their outcomes following various interventions.

Methods. A review of medical records of all patients with confirmed NF1, identified through databases from the Institute of Human Genetics and the Philippine General Hospital from 1999 to 2022, was done. Demographic, clinical, treatment, and outcome data were reviewed and evaluated. Data gathered included clinical profile, interventions, and survival. Additionally, for patients with congenital pseudarthrosis and NF1, radiologic findings, treatments, and functional outcomes such as union maintenance and refracture were evaluated.

Results. The mean age of 50 patients with NF1 at initial evaluation was 10.8 ± 5.5 years, with an average symptom onset at 1.9 ± 3.7 years. Common features included café-au-lait spots (100%), axillary and inguinal freckling (17%), and cutaneous (15%) or plexiform (11%) neurofibromas. Interventions noted included surgery for intracranial tumors and multiple surgeries for congenital pseudarthrosis of the tibia. Six patients with congenital pseudarthrosis of the tibia had a median age of presentation at 0.5 years, with most requiring repeated surgical interventions and receiving bisphosphonate treatment for better bone union outcomes.

Conclusion. A multidisciplinary approach is necessary to address the varied clinical manifestations of NF1, including biological, biomechanical, psychological, and developmental issues. Standardization and adherence to established multidisciplinary protocols are necessary to achieve optimal outcomes.