title: Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).
abstract: Lower cranial and phrenic nerve involvement is exceptional in hereditary neuropathy with liability to pressure palsies (HNPP). Here we report the occurrence of reversible laryngeal and phrenic nerve involvement in a patient with HNPP. The patient recalled several episodes of reversible weakness and numbness of his feet and hands since the age of 30 years. His medical history was uneventful, apart from chronic obstructive pulmonary disease (COPD). At age 44, following severe weight loss, he presented with progressive dysphonia and hoarseness. EMG of cricoarytenoid and thyroarytenoid muscles and laryngeal fibroscopy confirmed vocal cord paralysis. These speech disturbances gradually regressed. Two years later, he reported rapidly worsening dyspnea. Electroneurography showed increased distal latency of the right phrenic nerve and diaphragm ultrasonography documented reduced right hemi-diaphragm excursion. Six months later and after optimization of CODP treatment, his respiratory function had improved and both phrenic nerve conduction and diaphragm excursion were completely restored. We hypothesize that chronic cough and nerve stretching in the context of CODP, together with severe weight loss, may have triggered the nerve paralysis in this patient. Our report highlights the need for optimal management of comorbidities such as CODP as well as careful control of weight in HNPP patients to avoid potentially harmful complications.
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy. Electronic address: andrea.cortese@mondino.it.
authors.forename: A
authors.initials: A
authors.lastname: Cortese
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Piccolo
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Lozza
authors.affiliation: Pulmonary Division, S. Maugeri Foundation IRCCS, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Schreiber
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; Neuroscience Consortium, Monza Policlinico and Pavia Mondino, University of Pavia, Pavia, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Callegari
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; University of Pavia, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Moglia
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Alfonsi
authors.affiliation: Department of Clinical Neurosciences, C. Besta Neurological Institute, IRCCS Foundation, Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology*; D003964:Diaphragm / Q000000981:diagnostic imaging / Q000503:physiopathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D007823:Laryngeal Nerves / Q000503:physiopathology*; D008297:Male; D010791:Phrenic Nerve / Q000503:physiopathology*; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology / Q000503:physiopathology; D014826:Vocal Cord Paralysis / Q000209:etiology / Q000503:physiopathology; D015431:Weight Loss
keywords: Hereditary neuropathy with liability to pressure palsies (HNPP); Phrenic nerve; Respiratory insufficiency; Vocal cord paralysis