Hereditary Neuropathy with Liability to Pressure Palsies

Choi, Hyoung Won; Kuntz, Nancy L.

doi:10.15844/pedneurbriefs-29-11-2

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…HNPP is an autosomal dominant disease characterized by recurrent, episodic demyelinating neuropathy caused by 17p11.2 chromosomal deletion encompassing the PMP22 gene. The onset is acute, usually in adulthood, and involves a single nerve, most frequently peroneal and ulnar, with a non-painful focal sensory and motor neuropathy [181]. The onset in children most commonly involves peroneal nerve palsy and brachial plexus palsy [182].…”

Section: -Pressure Palsiesmentioning

confidence: 99%

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Caffarelli,

Santamaria,

Piro

et al. 2023

Ital J Pediatr

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The last year saw intensive efforts to advance knowledge in pediatric medicine. This review highlights important publications that have been issued in the Italian Journal of Pediatrics in 2022. We have chosen papers in the fields of allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology. Novel valuable developments in epidemiology, pathophysiology, prevention, diagnosis and treatment that can rapidly change the approach to diseases in childhood have been included and discussed.

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Section: -Pressure Palsiesmentioning

confidence: 99%

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Caffarelli,

Santamaria,

Piro

et al. 2023

Ital J Pediatr

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“…Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating neuropathy, characterized by acute onset of a non-painful focal sensory and motor neuropathy in a single nerve. The peroneal and ulnar nerves are most frequently affected nerves [ 1 ]. Compression or mild pressure over years to decades and trauma are the main triggers for the symptoms [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…The HNPP phenotype usually first manifests in the 2nd or 3rd decade of life, however the age range is variable beginning at infancy and reaching well into adulthood [ 1 ]. The phenotypic presentation is diverse as well, and many individuals remain asymptomatic.…”

Section: Introductionmentioning

confidence: 99%

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom

et al. 2022

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Background Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy. Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating neuropathy, most commonly caused by a 17p11.2 chromosomal deletion encompassing the PMP22 gene. Methods We pursued chromosomal microarray analysis (CMA) in multiple affected individuals of a single extended family, manifesting a range of phenotypic features consistent with HNPP. Results A 4.5 years-old boy presented for in-patient evaluation due to refusal to walk. Initial investigations including spine MRI and bone scan failed to yield a conclusive diagnosis. Following family history, which implied an autosomal dominant mode of inheritance, CMA was pursued and confirmed a 17p11.2 deletion in the proband consistent with HNPP. Importantly, following this diagnosis, four additional affected family members were demonstrated to harbor the deletion. Their variable phenotypic features, ranging from a prenatal diagnosis of a 6 months-old sibling, to recurrent paresthesias manifesting in the fourth decade of life, are discussed. Conclusions Our experience with the family reported herein demonstrates how a thorough anamnesis can lead to a rare genetic etiology with a favorable prognosis and prevent unnecessary investigations, and underscores HNPP as an uncommon diagnostic possibility in the limping child.

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Case XXII: Thigh Weakness

Hanna¹

2017

Nerve Cases

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Hereditary Neuropathy with Liability to Pressure Palsies

Abstract: Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.

Cited by 5 publications

References 3 publications

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom

Case XXII: Thigh Weakness

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