Hereditary neuropathy with a liability to pressure palsies presenting as a case of sensory neuropathy following spinal anaesthesia for caesarean delivery

AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.

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Spinal anaesthesia for elective caesarean section in a patient with hereditary neuropathy with liability to pressure palsies

International Journal of Obstetric Anesthesia ◽

10.1016/j.ijoa.2019.05.004 ◽

2019 ◽

Vol 40 ◽

pp. 162-163

Author(s):

K. Samuel ◽

K. Mead ◽

T. Cominos ◽

N. Weale

Keyword(s):

Caesarean Section ◽

Spinal Anaesthesia ◽

Elective Caesarean Section ◽

Hereditary Neuropathy ◽

Pressure Palsies

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Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

Frontiers in Neurology ◽

10.3389/fneur.2021.726437 ◽

2021 ◽

Vol 12 ◽

Author(s):

Lisa De Kock ◽

Fréderic Van der Cruyssen ◽

Leonore Gruijthuijsen ◽

Constantinus Politis

Keyword(s):

Peripheral Nerves ◽

Case Reports ◽

Cranial Nerves ◽

Sensory Neuropathy ◽

Rare Condition ◽

Hereditary Neuropathy ◽

Rare Manifestation ◽

Facial Numbness ◽

Pressure Palsies ◽

Objective Tests

Trigeminal sensory neuropathy can be caused by a variety of conditions, including local, traumatic, iatrogenic, or systemic causes. Diagnosis and management remain a challenge for maxillofacial surgeons and neurologists. Therefore, a good clinical examination and objective tests and imaging are needed when diagnosing patients who present with facial numbness. We present a case with spontaneous episodes of facial paresthesia. He was diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), a rare condition that affects the peripheral nerves. Only a few case reports that describe involvement of the cranial nerves in patients with HNPP were found in the literature, and facial paresthesia has not been previously reported.

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

Sinapse ◽

10.46531/sinapse/ao/200055/2020 ◽

2020 ◽

Vol 20 (4) ◽

pp. 163-169

Author(s):

Joana Afonso ◽

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Keyword(s):

Nerve Conduction ◽

Significant Proportion ◽

Point Mutations ◽

Sensory Neuropathy ◽

Hereditary Neuropathy ◽

Pmp22 Gene ◽

Genetic Studies ◽

Molecular Features ◽

Peripheral Nerve Involvement ◽

Pressure Palsies

Introduction: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant inherited peripheral neuropathy caused by deletions of the PMP22 gene (PMP22). It is classically characterized by episodes of repeated focal pressure neuropathies at common entrapment sites. Atypical forms are recognized and may occur in up to 56% of HNPP patients. The electrophysiological characteristics and the genetic studies are paramount for its diagnosis. We aim to describe clinical, electrophysiological and genetic features of a cohort of patients diagnosed with HNPP at a tertiary hospital. Methods: Retrospective study of patients with a confirmed diagnosis of HNPP, using descriptive statistics for their characterization. Results: Seventeen patients from 15 different families were included. Nine were males, and the overall mean age was 42.6 years-old. Age at first symptoms ranged from 3 to 46 years-old, with mean time until diagnosis of 9.3 years. Nine patients (53%) presented recurrent painless mononeuropathies or isolated focal compressive neuropathies, and eight patients (47%) had atypical presentation phenotypes, such as “Charcot-Marie-Tooth-like (CMT-like) and sensory neuropathy. Intra-familial clinical heterogeneity was observed. All patients showed nerve conduction slowing at common entrapment sites (median, ulnar and peroneal nerves), and signs of a more generalized peripheral nerve involvement were present in more than half of the patients. Fifteen patients carried the PMP22 gene deletion, and point mutations were present in two. Conclusion: Our cohort presents similar clinical characteristics to the literature description, with a significant proportion of patients with atypical presentations. The absence of clinical-electrophysiological correlation emphasise the importance of nerve conduction and genetic studies for the definite diagnosis of the disease.

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