392 Hereditary Neuropathy with Liability to Pressure Palsy

• Published in: Archives of disease in childhood Vol. 106; no. Suppl 2; p. A164
• Main Authors: Šeparović, Iva, Kukuruzović, M, Malenica, M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 11.10.2021; BMJ Publishing Group LTD
• Subjects: Abstracts; Charcot-Marie-Tooth disease; Chromosome 17; Chromosome deletion; Chromosomes; Compression; Decompression; Diagnosis; Electromyography; Genetic screening; Liability; Meiosis; Movement disorders; Myelin; Paralysis; Patients; Pediatrics; Peripheral myelin protein 22; Peripheral nerves; Peripheral neuropathy; Pressure; Rehabilitation; Trauma
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2021-europaediatrics.392

A Case ReportI.Šeparović¹, M.Kukuruzović¹, M.Malenica¹ 1.-UHC Sestre milosrdnice, Zagreb, Croatia Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare, autosomal dominant disease, with prevalence estimated between 0.84 and 16 per 100,000, affecting peripheral myelin, which manifests as recurrent, and usually transient, painless motor and/or sensory neuropathies. Neuropathies are triggered by minor trauma or repetitive movements with compression and traction of peripheral nerves. The most frequent forms of presentation affect the peroneal and the ulnar nerves. Brachial plexopathy occurs in 11%-20% and is an unusual clinical manifestation; bilateral presentation is even rarer. Genetic tests are available to aid in diagnosis as molecular analysis has identified a deletion in the chromosome 17p11.2 in the majority of these patients. The deletion of chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies appears to be the reciprocal meiosis product of the 17p11.2 duplication seen in Charcot-Marie-Tooth disease Type 1a. We present the clinical case of a 16-year-old boy, football player. It was his first episode, HNPP presenting with foot drop and palsy both nerves peroneus after distortion articulation talocruralis.Electromyography studies showed subacute axonal lesions of both nerves peroneus. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. These palsies generally resolve without surgical intervention but orthopedist decided to make decompression of nerve. The recovery followed quickly. After one-year follow up, he was completely asymptomatic. A case report is presented of a patient with this disorder to promote awareness and recognition that this entity should be considered in patients with multiple nerve palsies.