Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

Abstract

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP)

“…Other clinical findings, including those reported in a small number of cases are included in the HNPP review reported by Bird 9 . As usually observed in HNPP, the electrophysiological features are much more homogeneous, characterized by an asymmetric sensorimotor neuropathy with focal slowing observed in 94% of cases, including a case with brachial plexus pattern in Oliveira et al 4 series. Luigetti et al 6 considered the neurophysiological examination as the main tool for a proper diagnosis of HNPP.…”

“…This painless acute or subacute mononeuropathy is the classical phenotype 1 . Pes cavus and nerve thickening, seen in CMT patients, was rare in Oliveira et al 4 HNPP series. Heterogeneity in clinical presentation and disease course is the rule in this neuropathy 1,5 .…”

“…Transient sensory phenomena without weakness is referred by some patients, mainly when assuming some usual positions, as crossing legs. Paresthesia was the presenting symptom in 11% of Oliveira et al 4 cases, and positional sensory symptoms were present in 31%. Interesting is the occurrence of pain as the presentation symptom of neuropathy in this series (15% of cases), making the authors call attention to the fact that pain symptoms do not exclude HNPP diagnosis 4 .…”

“…Paresthesia was the presenting symptom in 11% of Oliveira et al 4 cases, and positional sensory symptoms were present in 31%. Interesting is the occurrence of pain as the presentation symptom of neuropathy in this series (15% of cases), making the authors call attention to the fact that pain symptoms do not exclude HNPP diagnosis 4 . Sciatic neuropathy as the clinical presentation of HNPP has been reported 8 .…”

“…In this series, family history was present in 59% of cases, showing that clinical presentation, recurrence of signs and symptoms, and neurophysiological findings are strong elements for diagnostic suspicion. A progressive course is uncommon, but was reported in 20% of their HNPP patients 4 . Older presentation of HNPP was seen in this series, in contrast with others.…”