Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease. Case report: A 62-year-old woman presented with macroglossia in the early stages of motor neuron disease. She was referred to the department of physical medicine and rehabilitation of a university hospital for rehabilitation with the diagnosis of motor neuron disease, most likely primary lateral sclerosis. Her speech was incomprehensible, and she also showed significant sialorrhea and had difficulty in chewing large solid food. Her tongue was enlarged on examination, and she could not close her mouth fully. No other possible causes of macroglossia were found. She showed nocturnal hypercapnia on overnight capnography examination coupled with desaturation, which was believed to result from the macroglossia. After commencing non-invasive ventilation with pressure control mode, follow-up overnight capnography revealed EtCO2 values within the normal range. Conclusions: To the best of our knowledge, this is the first report of macroglossia in PLS. Further study would be needed to ascertain the pathogenesis of this phenomenon.
Keywords: Macroglossia; motor neuron diseases; obstructive sleep apnoea; primary lateral sclerosis; sleep-disordered breathing.