Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of thePMP22gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

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105 Hereditary neuropathy with liability to pressure palsy in a young child

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(99)91289-8 ◽

1999 ◽

Vol 3 (6) ◽

pp. A114

Author(s):

I. Goikhman ◽

J. Meer ◽

N. Zelnik

Keyword(s):

Young Child ◽

Hereditary Neuropathy ◽

Pressure Palsy

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

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20160010 ◽

2016 ◽

Vol 74 (2) ◽

pp. 99-105 ◽

Cited By ~ 4

Author(s):

Aline Pinheiro Martins de Oliveira ◽

Raquel Campos Pereira ◽

Patrícia Toscano Onofre ◽

Vanessa Daccach Marques ◽

Gilberto Brown de Andrade ◽

...

Keyword(s):

Nerve Conduction Studies ◽

Frequent Pattern ◽

Hereditary Neuropathy ◽

Brachial Plexopathy ◽

Motor Neuropathy ◽

Sensorimotor Polyneuropathy ◽

Pressure Palsy ◽

Pressure Palsies ◽

Sensory Polyneuropathy ◽

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.

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Vagus nerve pressure palsy in hereditary neuropathy with liability to pressure palsies confirmed by neurosonography

Clinical Neurophysiology ◽

10.1016/j.clinph.2021.02.002 ◽

2021 ◽

Vol 132 (4) ◽

pp. 975-976

Author(s):

Patrick Steinwand ◽

Alexander Grimm ◽

Georg L.F. Potthast ◽

Ulf Ziemann ◽

Markus Krumbholz

Keyword(s):

Vagus Nerve ◽

Hereditary Neuropathy ◽

Pressure Palsy ◽

Pressure Palsies

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1-48-05 Clinical, electrophysiological, and genetic studies on hereditary neuropathy with liability to pressure palsies (HNPP)

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(97)85155-6 ◽

1997 ◽

Vol 150 ◽

pp. S64

Author(s):

Y.C. Chang ◽

C.C. Huang ◽

S.F. Sung ◽

J.S. Peng ◽

P.F. Chance ◽

...

Keyword(s):

Hereditary Neuropathy ◽

Genetic Studies ◽

Pressure Palsies

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Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade

Brain and Development ◽

10.1016/j.braindev.2008.07.002 ◽

2009 ◽

Vol 31 (6) ◽

pp. 445-448 ◽

Cited By ~ 14

Author(s):

Ayşe Oytun Bayrak ◽

Esra Battaloglu ◽

Hande Turker ◽

Ibrahim Baris ◽

Gurkan Oztas

Keyword(s):

Hereditary Neuropathy ◽

Pressure Palsy ◽

Electrophysiological Examination

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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 ◽

◽

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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