# Von Recklinghausen's disease revealed by a thoracic mass and pulmonary cystic lesions

## TL;DR

A 13-year-old boy with Neurofibromatosis type 1 presented with a thoracic mass and lung cysts, leading to his death during surgery.

## Contribution

This case highlights rare pulmonary manifestations of NF1 in a pediatric patient.

## Key findings

- The patient had multiple café au lait spots, axillary freckling, and a large mediastinal mass.
- Genetic testing confirmed an NF1 gene mutation.
- Pulmonary cystic lesions were observed alongside the mediastinal mass.

## Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that affects approximately 1 in 3,000 births. It is mainly characterized by cutaneous manifestations such as café au lait spots, neurofibromas, and axillary or inguinal freckling. Pulmonary involvement is rare (5-20%) and may include cystic or infiltrative lesions. We here report the case of a 13-year-old boy with no significant past medical history who presented with exertional dyspnea, chest pain, fatigue, and dry cough. Physical examination revealed multiple café au lait spots (>10), axillary freckling, and dorsal scoliosis. Chest X-ray showed a right posterior mediastinal mass. A computer tomography scan confirmed a large mediastinal mass (13 x 15 x 12cm) associated with bilateral pulmonary cystic lesions. Biopsy demonstrated benign neurofibroma, and genetic testing confirmed a mutation in the NF1 gene. Unfortunately, the patient died intraoperatively during an attempted surgical resection.