Rivista di formazione e di aggiornamento professionale del pediatra e del medico di base, realizzata in collaborazione con l'Associazione Culturale Pediatri
M&B Pagine Elettroniche
Due cugini con neuropatia ereditaria con sensibilitą alla paralisi da pressione
UOC di Pediatria e Neonatologia, Ospedali di Faenza e Ravenna, AUSL della Romagna
*Medicina Riabilitativa, Ravenna, AUSL della Romagna
Indirizzo per corrispondenza: email@example.com
Two cousins with hereditary neuropathy with liability to pressure palsy
Key words: Painless pressure palsies, Paresis, Neuropathy, PMP22 gene
Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare condition in childhood. The paper presents the case of two cousins, a 7-year-old female and 10-year-old male, who experienced difficulty in walking to a lower limb with different phenotypic appearance. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in the case of the male and a single mononeuropathy in the case of the female. The diagnosis of HNPP is confirmed by genetic testing. These case reports emphasise that the diagnosis of HNPP in children requires a high index of suspicion and should be considered in a child with painless monoparesis.
Vuoi citare questo contributo?