Neurofibromatosis type I presenting with urinary retention and lung collapse

Area of Science:

• Neurology
• Oncology
• Urology

Background:

• Neurofibromas are typically benign tumors that grow on nerves.
• They can occur anywhere in the nervous system and may affect multiple organs.
• This case highlights the potential for widespread impact from a single tumor type.

Observation:

• A 26-year-old male presented with urinary retention, spastic paraparesis, and a neck mass.
• Imaging revealed multiple neurofibromas.
• These tumors caused compression of the bladder, ureter, spinal cord, and lung.

Findings:

• A lumbar spinal root neurofibroma caused urinary retention by compressing the bladder and right ureter.
• An intraspinal neurofibroma at the cervicodorsal junction led to spastic paraparesis due to spinal cord compression.
• The intraspinal tumor extended contiguously to a neck mass and a right hemithorax mass, causing right lung collapse.

Implications:

• This case demonstrates the extensive and varied clinical manifestations of neurofibromas.
• It underscores the importance of considering widespread tumor involvement in patients with neurofibromatosis.
• Early diagnosis and comprehensive management are crucial for improving patient outcomes.