Overview
Mucosal anosmia refers to the loss or impairment of the sense of smell due to disorders affecting the olfactory mucosa, distinct from central causes. This condition can arise from various pathologies impacting the nasal passages and olfactory epithelium 1.Diagnosis
Clinical Presentation: Presence of mucosal neuromas and potential gastrointestinal neurogangliomas 1.
Diagnostic Tests: Serum calcitonin levels following stimulation (calcium or pentagastrin infusion) to detect early medullary thyroid carcinoma 1.
Differential Diagnosis: Consider in cases of Hirschsprung's disease and neonatal bowel obstruction 1.Management
Surgical Intervention: Early thyroid surgery recommended for patients with elevated calcitonin levels to prevent terminal medullary thyroid carcinoma 1.
Monitoring: Regular calcitonin screening in patients with multiple mucosal neuromas 1.Special Populations
Neonates: Consider MMN syndrome in differential diagnosis of Hirschsprung's disease and neonatal bowel obstruction 1.Key Recommendations
Perform serum calcitonin stimulation tests in patients with multiple mucosal neuromas to screen for medullary thyroid carcinoma (Evidence: Moderate) 1.
Early surgical intervention should be considered for MMN patients with elevated calcitonin levels to prevent progression to terminal MTC (Evidence: Expert opinion) 1.
Include MMN syndrome in the differential diagnosis for neonatal bowel obstruction and Hirschsprung's disease (Evidence: Expert opinion) 1.References
1 Netzloff ML, Garnica AD, Rodgers BM, Frias JL. Medullary carcinoma of the thyroid in the multiple mucosal neuromas syndrome. Annals of clinical and laboratory science 1979. link