Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies. 2018

Francis Renault, and Roberto Flores-Guevara, and Bernard Sergent, and Jean Jacques Baudon, and Jessie Aouizerate, and Marie-Paule Vazquez, and Cyril Gitiaux
Centre de référence des malformations rares de la face et de la cavité buccale MAFACE, Hôpital Necker-Enfants-Malades, Paris, France.

BACKGROUND We designed a retrospective study of 59 patients with congenital sporadic nonprogressive bilateral facial and abducens palsies. METHODS Examinations included needle electromyography (EMG) of facial and oral muscles, facial nerve motor latency and conduction velocity (FNCV), and blink responses (BR). RESULTS Neurogenic EMG changes were found in 1 or more muscles in 55 of 59 patients, with no abnormal spontaneous activity. EMG changes were homogeneously neurogenic in 17 patients, homogeneously myopathic in 1 patient, and heterogeneous in 41 of 59 patients. Motor latency was increased according to recordings from 52 of 137 facial muscles. An increase of motor latency was not associated with neurogenic EMG (Fischer's test: right, P = 1; left, P = 0.76). FNCV was slowed in 19 of 36 patients. BR was absent bilaterally in 35 of 58 patients; when present, R1 and R2 latencies were normal. CONCLUSIONS Our results support the hypothesis of an early developmental defect localized in motor cranial nerves with spared V-VII internuclear pathways. Muscle Nerve, 2018.

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