Hereditary neuropathy with liability to pressure palsies: a single-center experience in southern Brazil

Abstract

The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer’s cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients.

Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department

“…In case 4, the patient had a very uncommon suprascapular neuropathy which is not usually observed in HNPP. Recent studies have reported a few cases of suprascapular neuropathy in its notch at the supraspinatus fossa caused by strenuous physical activities; this correlates with our patient who also experienced arm weakness after strenuous exercise during his military service [ 13 ].…”

Clinical, Electrophysiological and Molecular Features in Hereditary Neuropathy with Liability to Pressure Palsies

“…It is noteworthy the intra-familial phenotypical heterogeneity, as previously reported. 1,[3][4][5] To summarize, current literature emphasizes the presence of atypical forms of HNPP, as observed in our group of patients. The related absence of clinicalelectrophysiological correlation highlights the importance of nerve conduction studies and genetic study for the definite diagnosis of the disease.…”

“…These phenotypes include Charcot-Marie-Tooth-like (CMT-like) polyneuropathy, chronic sensory polyneuropathy, progressive mononeuropathy, recurrent positional short-term sensory symptoms and presenting symptoms mimicking a Guillain-Barré syndrome. [1][2][3][4][5] Therefore, in the diagnostic evaluation of HNPP, neurophysiological and genetic testing are essential. [1][2][3] Electrophysiologically, the most common findings are abnormal sensory responses (absent or with low amplitude with prolonged latency), prolonged distal motor latencies with normal or slightly diminished conduction velocities (CV), and CV slowing, in the range of demyelination (<39 m/s), at normal sites of entrapment.…”

“…1,3,11 Histopathological findings include focal sausageshaped thickening of the myelin sheath, called "tomacula", which is considered the hallmark of the disease. [1][2][3][4][5]9 In this study we aim to describe clinical, electrophysiological and genetic features of seventeen patients with HNPP, observed in an adult Neuromuscular Disease Reference Unit.…”

Distinção clínico-eletrofisiológica entre a neuropatia hereditária com suscetibilidade à pressão e a neuropatia hansênica

“…Os pacientes com HNPP apresentaram, na grande maioria dos casos (32 pacientes -94.0%), o padrão de neuropatia sensitivo-motora assimétrica com alentecimento focal da condução (NSMAAF), semelhante aos achados prévios da literatura (PAREYSON et al, 1996;MOUTON et al, 1999;LORENZONI et al, 2016;ROBERT-VARVAT et al, 2018 RAMADAN et al, 2001;JACOBSON, 2005).…”