{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T07:35:42Z","timestamp":1660289742610},"reference-count":12,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1997]]},"abstract":"<jats:p>As doen\u00e7as neuro degenerativas infantis comp\u00f5em grupo variado de entidades em que os erros inatos do metabolismo induzem a defeitos enzim\u00e1ticos intr\u00ednsecos \u00e0s c\u00e9lulas com eventual ac\u00famulo de material intracelular. A microscopia eletr\u00f4nica (ME) pode auxiliar na caracteriza\u00e7\u00e3o do produto acumulado. Os autores relatam a experi\u00eancia no diagn\u00f3stico das doen\u00e7as neurodegenerativas na inf\u00e2ncia atrav\u00e9s da an\u00e1lise por ME de amostras teciduais provenientes de bi\u00f3psias, principalmente de pele, conjuntiva e reto e em 2 casos material de necr\u00f3psia. As amostras teciduais eram de pacientes com quadro de encefalopatia progressiva a esclarecer. As bi\u00f3psias de 89 pacientes com quadro de encefalopatia progressiva foram estudadas por microscopia eletr\u00f4nica. A idade dos pacientes variou de 49 dias a 13 anos, com pico de incid\u00eancia no primeiro ano de vida (n=28), sendo 50 pacientes do sexo feminino e 39 do masculino. Quanto \u00e0 origem do material, houve predom\u00ednio de pele e conjuntiva. Dos 89 pacientes, 15 tiveram diagn\u00f3stico de certeza (16,8%) sendo 4 casos de gangliosidose, 3 casos de mucopolissacaridose, 1 caso de doen\u00e7a de Gaucher, 1 caso de doen\u00e7a de Niemann-Pick, 3 casos de lipofuscinose cer\u00f3ide e 3 casos sugestivos de doen\u00e7a de ac\u00famulo n\u00e3o podendo ser especificadas. Os autores analisaram os aspectos cl\u00ednicos e os achados ultraestruturais e concluem que a ME \u00e9 um m\u00e9todo complementar valioso no diagn\u00f3stico de doen\u00e7a heredit\u00e1ria metab\u00f3lica de ac\u00famulo, por\u00e9m de baixa acur\u00e1cia diagn\u00f3stica quando feito como \u00fanico m\u00e9todo de \"screening\" laboratorial em uma popula\u00e7\u00e3o com encefalopatia progressiva a esclarecer.<\/jats:p>","DOI":"10.1590\/s0004-282x1997000500016","type":"journal-article","created":{"date-parts":[[2010,10,17]],"date-time":"2010-10-17T01:13:03Z","timestamp":1287277983000},"page":"788-794","source":"Crossref","is-referenced-by-count":1,"title":["Estudo por microscopia eletr\u00f4nica em doen\u00e7as neurodegenerativas na inf\u00e2ncia"],"prefix":"10.1590","volume":"55","author":[{"given":"Luiz Fernando Bleggi","family":"Torres","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graciela Vanessa Vicelli","family":"Jacob","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00facia de","family":"Noronha","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilberto Antunes","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9rgio","family":"Antoniuk","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isac","family":"Bruck","sequence":"additional","affiliation":[{"name":"Universidade Federal do 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