Abstract
Two families with hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated clinically, electrophysiologically and pathologically (2 index cases). Familial patterns suggest autosomal dominant inheritance. The clinical presentation is characteristic, with recurrent painless transitory mononeuropathy, without evident triggering factors, or caused by trivial trauma or pressure. In affected members neurophysiological studies showed diffuse slowing in nerve conduction, more evident at common sites of entrapment. Somatosensory evoked potentials (SEPs) showed bilateral peripheral abnormalities with proximal nerve incolvement more pronounced in older patients. 40 to 75% of teased fibers displayed sausage-shaped swellings. Ultrastructurally some sausages showed redundant myelin loops and excessive number of myelin lamellae that seem to cause axonal constriction.
Sommario
Due famiglie portatrici di neuropatia ereditaria con predisposizione alla paralisi da compressione (HNPP) sono state valutate dal punto di vista clinico, neurofisiologico e morfologico (2 casi indice). L'eredità in entrambi i casi è autosomica dominante. La presentazione clinica è caratterizzata da mononeuropatie non dolorose, transitorie e ricorrenti, in distretti diversi, precipitate da compressioni o traumi lievi, o senza causa apparente. Nei soggetti più anziani in particolare è presente un quadro clinico di lieve polineuropatia sensitivomotoria. Nei membri affetti le velocità di conduzione del nervo sono rallentate in modo diffuso, con blocchi focali nei comuni siti di intrappolamento. L'esame dei potenziali evocati somatosensitivi ha dimostrato in tutti i soggetti affetti anomalie di tipo periferico, coinvolgenti anche i tratti prossimali in modo più pronunciato nei pazienti anziani. All'esame della singola fibra nervosa isolata, rigonfiamenti della guaina mielinica con l'aspetto caratteristico dei “sausages” sono riscontrabili nel 40 e nel 75% delle fibre esaminate rispettivamente nei 2 casi indice. All'esame ultrastrutturale i “sausages” appaiono formati da un eccessivo numero di lamelle mieliniche, alcune formanti loops, che sembrano costringere l'assone.
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Marazzi, R., Pareyson, D., Scaioli, V. et al. Recurrent familial neuropathy due to liability to pressure palsies. Ital J Neuro Sci 9, 355–363 (1988). https://doi.org/10.1007/BF02333999
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DOI: https://doi.org/10.1007/BF02333999