Abstract
During a febrile upper respiratory tract illness this 4 year old boy developed left hemiparesis, which progressed to loss of walking and even of sitting finally to tetraplegia. The cerebrospinal fluid protein pattern showed blood-brain barrier damage with additional intrathecal IgG synthesis. The symptoms responded to steroid therapy but resumed and worsened on withdrawal. Only late, when visual evoked potentials and nerve conduction velocity proved to be impaired, was Krabbe disease diagnosed on the assay of cultured fibroblasts for galactocerebroside-beta-galactosidase. We discuss the significance of possible endogenous production of IgG in the CNS.
Sommario
Gli autori riportano lo studio clinico e biochimico di un caso di malattia di Krabbe tardiva. L'esordio acuto dei sintomi neurologici, dopo una affezione febbrile respiratoria, il profilo immunochimico del liquor con produzione locale di IgG e la risposta iniziale al trattamento con ACTH hanno fatto supporre una genesi infiammatoria. È stata tuttavia diagnosticata in seguito una malattia di Krabbe. Gli Autori discutono brevemente il significato di una possibile produzione di IgG nel Sistema Nervoso Centrale in questo caso.
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Rolando, S., Cremonte, M. & Leonardi, A. Late onset globoid leukodystrophy: unusual clinical and CSF findings. Ital J Neuro Sci 11, 57–59 (1990). https://doi.org/10.1007/BF02334906
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DOI: https://doi.org/10.1007/BF02334906