The Italian Journal of Neurological Sciences

, Volume 14, Issue 8, pp 609–617 | Cite as

Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature

  • Rizzuto N. 
  • Moretto G. 
  • Galiazzo Rizzuto S. 
Original Articles

Abstract

Tomaculous neuropathy has a distinctive pathological pattern of myelin thickenings in a high proportion of internodes but no specific pattern of nerve degeneration. We have analyzed the variable clinical expression of this disorder in a large series of patients. Different phenotypes have been recognized: the majority of our patients (52 cases) had hereditary neuropathy with liability to pressure palsy (HNPP) showing wide variability of clinical progression and of severity of the single episodes. 3 patients suffered from familial recurrent brachial plexus neuropathy (FBPN); 5 patients had a symmetrical progressive sensorimotor involvement of the limbs (SSMN), predominantly in the distal portions and leading to permanent disability. The explanation for this clinical variability does not emerge from our data or from the literature. Segmental demyelination is the major change correlating with the episodes of nerve palsy; axonal degeneration might be rarely associated. The myelin sausages are the markers of a selective vulnerability of the nerve fibers either to mechanical injury or to some other unknown event.

Key Words

Pheripheral nerve tomaculous changes hereditary neuropathy pressure sensitive neuropathy 

Sommario

La neuropatia tomaculare è un'entità patologica, caratterizzata da ispessimenti focali della mielina a forma di salsicciotti in un certo numero di internodi mielinici, in assenza di altri specifici quadri di degenerazione del nervo.

L'analisi dell'espressione clinica della malattia ha permesso di identificare su un'ampia casistica diversi fenotipi clinici: la maggior parte dei pazienti sono risultati affetti da paralisi familiare da compressione, con grande variabilità per quanto attiene la progressione clinica e la gravità dei singoli episodi. Tre pazienti con analoga familiarità avevano paralisi ricorrenti del plesso brachiale: 5 pazienti infine presentavano segni e sintomi di neuropatia sensitivo-motoria distale simmetrica, a carattere progressivo ed invalidante.

La demielinizzazione segmentaria è la lesione responsabile della paralisi dei tronchi nervosi. In qualche raro caso si può dimostrare anche degenerazione assonale.

I salsicciotti mielinici sono da considerare come i markers di una peculiare vulnerabilità delle fibre nervose a danni meccanici o a qualche altro fattore tuttora sconosciuto.

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Copyright information

© Masson Italia Periodici S.r.l. 1993

Authors and Affiliations

  • Rizzuto N. 
    • 1
  • Moretto G. 
    • 1
  • Galiazzo Rizzuto S. 
    • 1
  1. 1.Istituto di NeurologiaUniversità degli Studi di VeronaVerona

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