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Massive plexiform neurofibroma and spinal deformity presenting as dysphagia
Emmanuel Prokopakis1, Maria Raissaki, Constantinos Bourolias
1Department of Otolaryngology, University of Crete School of Medicine, Heraklion, Crete, Greece.
American Journal of Otolaryngology
|July 4, 2007
Summary
A rare neck tumor, plexiform neurofibroma (PNF), caused severe swallowing difficulty (dysphagia) and weight loss in a patient with neurofibromatosis type 1. This case highlights the potential for PNF and spinal issues to cause significant gastrointestinal compression.
Area of Science:
- Oncology
- Neurology
- Gastroenterology
Background:
- Dysphagia is a common symptom indicating upper gastrointestinal or respiratory tract disease.
- Plexiform neurofibromas (PNFs) are benign nerve tumors often linked to neurofibromatosis type 1 (NF1).
Observation:
- A 52-year-old woman presented with dysphagia and weight loss.
- She had a massive PNF in her posterior neck subcutaneous tissue.
- Associated conditions included C1-C2 dislocation, scoliosis, and meningoceles, indicative of NF1.
Findings:
- The large PNF, combined with cervical spine dysplasia, likely compressed the upper gastrointestinal tract.
- This compression resulted in chronic, progressive dysphagia.
Implications:
- This case underscores the importance of considering rare tumors like PNF in patients with unexplained dysphagia.
- It highlights the complex interplay between neurofibromatosis type 1, spinal abnormalities, and gastrointestinal symptoms.
- Early diagnosis and management are crucial for improving patient outcomes.
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