Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

Abstract

We present pathology of the peripheral nerves of a patient with Adult-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation p.D651N. The patient was a 72-year-old woman. She had hoarseness and underwent continuous positive airway pressure therapy at night due to sleep apnea. The patient died abruptly. Remarkable demyelination with tomacula formation was found in the phrenic nerve, vagal nerve, recurrent laryngeal nerve, and oculomotor nerves. The cause of death could have been insufficient reactivity to the aspiration or sudden onset of bilateral vocal cord palsy. We must pay attention to respiratory function and cranial nerve palsies in hereditary demyelinating neuropathies.

Keywords: Charcot-Marie-Tooth disease 4F; Oculomotor nerve; Periaxin; Phrenic nerve; Recurrent laryngeal nerve; Vocal cord paresis.

Fig. 1

Toluidine blue staining of the anterior spinal nerve root (A), the posterior spinal nerve root (B), the recurrent laryngeal nerve (C), the vagal nerve (D), the phrenic nerve (E), and the oculomotor nerve (F). Bars in the bottom right corners represent 20 μm. Teased fibers of the anterior spinal nerve root (G), the posterior spinal nerve root (H), the recurrent pharyngeal nerve (I), the vagal nerve (J), and the phrenic nerve (K). The bar in the bottom represents 100 μm. Tomacula formation (focal myelin thickening) is observed in these nerves (arrowhead). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)