{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T07:23:45Z","timestamp":1768634625884,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T00:00:00Z","timestamp":1486080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The S\u00e3o Paulo Research Foundation (FAPESP)"},{"name":"The Brazilian National Council for Scientific and Technological Development (CNPq)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Chediak\u2010Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene <jats:italic>CHS1\/LYST<\/jats:italic>) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune\u2010mediated demyelinating neuropathy as the main clinical feature of CHS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense. Protein and immunoglobulins (Igs) were elevated in the cerebrospinal fluid. Electrodiagnostic tests indicated an acquired chronic demyelinating polyneuropathy. Intravenous Ig and immunosuppressant treatment resulted in neurological improvement. The patient later developed organomegaly and pancytopenia. Bone\u2010marrow smear revealed giant azurophilic granules pathognomonic for CHS. Two novel mutations in the <jats:italic>LYST<\/jats:italic> gene were identified through whole exome sequencing [c.7786C&gt;T and c.9106\u2009+\u20091G&gt;T].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case expands the clinical phenotype of CHS and highlights inflammatory demyelinating neuropathy as a manifestation of the disease. <jats:italic>Muscle Nerve<\/jats:italic> 55: 756\u2013760, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25414","type":"journal-article","created":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T23:15:11Z","timestamp":1474931711000},"page":"756-760","source":"Crossref","is-referenced-by-count":4,"title":["Inflammatory demyelinating neuropathy heralding accelerated chediak\u2010higashi syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Ingrid Vasconcellos","family":"Faber","sequence":"first","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas \u2013 UNICAMP, Rua Tess\u00e1lia Vieira de Camargo,126. Cidade Universitaria \u201cZeferino Vaz\u201d Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana Rosa Marques","family":"Prota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medical Sciences University of Campinas \u2013 UNICAMP Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto Rolim Muro","family":"Martinez","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas \u2013 UNICAMP, Rua Tess\u00e1lia Vieira de Camargo,126. Cidade Universitaria \u201cZeferino Vaz\u201d Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anamarli","family":"Nucci","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas \u2013 UNICAMP, Rua Tess\u00e1lia Vieira de Camargo,126. Cidade Universitaria \u201cZeferino Vaz\u201d Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iscia","family":"Lopes\u2010Cendes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medical Sciences University of Campinas \u2013 UNICAMP Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcondes Cavalcante Fran\u00e7a","family":"J\u00fanior","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas \u2013 UNICAMP, Rua Tess\u00e1lia Vieira de Camargo,126. Cidade Universitaria \u201cZeferino Vaz\u201d Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329194"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2010.00245.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2010.00278.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-307"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f2bcce"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)60020-3"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002551"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050076"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24637"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01205.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-356113"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0132-6"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-46"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25386"},{"key":"e_1_2_8_16_1","first-page":"156","article-title":"Neuropathological changes in Chediak\u2010Higashi disease","volume":"27","author":"Sung JH","year":"1968","journal-title":"J Neuropathol Exp Neurol"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1182\/blood.V20.3.330.330","article-title":"Blood. 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