[Hereditary sensory-motor polyneuropathy. Case report and problems in differential diagnosis].
The study reports a family in which three children were found to have marked sensory-motor polyneuropathy. Clinical investigations revealed a recessive hereditary form of highly progredient mostly motor polyneuropathy with atrophy and weakness of distal muscle groups and electrophysiologic evidence of neurogenic lesion-delayed neural conduction. Apart from the peripheral nerves, clinical examination and additional investigations showed that the degenerative process encompassed central nerve system structures, posterior bundles of the spinal cord, spinal cerebral pathways, cerebellum and cerebrum (cerebral sings, mental retardation, epilepsy, brain atrophy on CT, increased IGG in the liquor are present). Although clinical and electrophysiological analyses suggest type III HSMN, muscle and nerve biopsy, as well as additional diagnostic methods broaden the differential diagnostic range toward other forms of hereditary polyneuropathy, whose differentiation in practice is, in spite of clear diagnostic criteria, rather difficult, due to the presence of its transitive forms.
Kelemen
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A
Zavod za neurologiju i psihijatriju razvojnog doba, Medicinski fakuktet, Novi Sad.
Nikolić
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V
D000293:Adolescent; D002648:Child; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree
Hereditarna senzomotorna polineuropatija. Prikaz slucaja i diferencijalno-dijagnosticki problemi.