Abstract
We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral neuropathy. Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate the condition from a number of hereditary ataxias and paraplegias. The clinical features of Strümpell-Lorrain spastic paraplegia and amyotrophic lateral sclerosis seem to resemble most closely that of our patient.
Sommario
Viene riportato un caso di un paziente di 12 anni che presenta l'associazione di ipoplasia bilaterale del nervo ottico con areflessia pupillare alla luce, paraparesi spastica, ipotrofia muscolare distale prevalente agli arti inferiori, piede cavo bilaterale e neuropatia periferica prevalentemente motoria; inoltre sono presenti rinolalia, ipotrofia con fascicolazioni della lingua e cardiopatia. Viene discusso il possible inquadramento di tale sindrome nell'ambito delle forme degenerative con paraparesi: vengono richiamati in particolare i caratteri differenziali dalla paraparesi spastica familiare di Strümpell e dalla sclerosi laterale amiotrofica.
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Doro, D., Rossetti, A., Battistella, P.A. et al. Optic nerve hypoplasia associated with pupillary light-near dissociation, spastic paraparesis and other non-ocular anomalies. Ital J Neuro Sci 9, 509–513 (1988). https://doi.org/10.1007/BF02337171
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DOI: https://doi.org/10.1007/BF02337171