Marco Luigetti1, Alessandra Del Grande2, Amelia Conte2, Mauro Lo Monaco2, Giulia Bisogni2, Angela Romano2, Marcella Zollino3, Paolo Maria Rossini4, Mario Sabatelli2. 1. Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. Electronic address: mluigetti@gmail.com. 2. Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. 3. Institute of Medical Genetics, Catholic University of the Sacred Heart, Rome, Italy. 4. Dept. of Geriatrics, Neurosciences & Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; IRCCS, S. Raffaele-Pisana, Rome, Italy; Casa di Cura, S. Raffaele Cassino, Cassino, Italy.
Abstract
BACKGROUND: Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome. Electrophysiological examination plays a central role in the diagnosis of HNPP, disclosing a non-uniform conduction slowing, more pronounced at entrapment sites. PATIENTS AND METHODS: We report clinical, electrophysiological and pathological findings from 73 patients with HNPP, coming from 53 unrelated families, followed at our Institute of Neurology over a 20-year period. RESULTS: Typical presentation with recurrent multiple mononeuropathies was observed in 28/64 (44%) patients. In the remaining 36/64 (56%), we observed an atypical clinical presentation, characterized by generalized weakness and cramps, chronic ulnar neuropathy, carpal tunnel syndrome, chronic sensory polyneuropathy, Guillain-Barrè-like presentation, and CMT-like presentation. Nine patients were asymptomatic for neuropathic symptoms. Nerve conduction studies showed in all cases a sensori-motor demyelinating polyneuropathy with conduction abnormalities preferentially localized at common entrapment sites. When performed, sural nerve biopsy disclosed the focal thickening of the myelin sheath in all patients. CONCLUSIONS: About half of the patients with HNPP from our cohort showed an atypical clinical presentation. Neurophysiological examination represents the main tool for a proper diagnosis.
BACKGROUND: Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome. Electrophysiological examination plays a central role in the diagnosis of HNPP, disclosing a non-uniform conduction slowing, more pronounced at entrapment sites. PATIENTS AND METHODS: We report clinical, electrophysiological and pathological findings from 73 patients with HNPP, coming from 53 unrelated families, followed at our Institute of Neurology over a 20-year period. RESULTS: Typical presentation with recurrent multiple mononeuropathies was observed in 28/64 (44%) patients. In the remaining 36/64 (56%), we observed an atypical clinical presentation, characterized by generalized weakness and cramps, chronic ulnar neuropathy, carpal tunnel syndrome, chronic sensory polyneuropathy, Guillain-Barrè-like presentation, and CMT-like presentation. Nine patients were asymptomatic for neuropathic symptoms. Nerve conduction studies showed in all cases a sensori-motor demyelinating polyneuropathy with conduction abnormalities preferentially localized at common entrapment sites. When performed, sural nerve biopsy disclosed the focal thickening of the myelin sheath in all patients. CONCLUSIONS: About half of the patients with HNPP from our cohort showed an atypical clinical presentation. Neurophysiological examination represents the main tool for a proper diagnosis.
Authors: Timothy P Rutkowski; Jason P Schroeder; Georgette M Gafford; Stephen T Warren; David Weinshenker; Tamara Caspary; Jennifer G Mulle Journal: J Neurosci Res Date: 2016-11-08 Impact factor: 4.164
Authors: Paulo José Lorenzoni; Cláudia Suemi Kamoi Kay; Cristiane Cavalet; Raquel C Arndt; Lineu Cesar Werneck; Rosana Herminia Scola Journal: Neurol Int Date: 2016-09-30