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Hair under light microscopy showed evenly distributed, large melanin granules, suggestive of Chediak-Higashi syndrome (CHS). Peripheral blood smear and bone marrow aspirate examinations revealed abnormal large intracytoplasmic granules, which was diagnostic of CHS. The child's investigations revealed coexistent hemophagocytic lymphohistiocytosis, confirming the diagnosis of CHS in \u2018accelerated phase\u2019, which is fatal if not treated. The parents prematurely took the child home against medical advice, before definitive therapy could be instituted.<\/jats:p>","DOI":"10.1136\/bcr-2014-203763","type":"journal-article","created":{"date-parts":[[2014,3,31]],"date-time":"2014-03-31T09:50:12Z","timestamp":1396259412000},"page":"bcr2014203763","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition"],"prefix":"10.1136","volume":"2014","author":[{"given":"Sunil","family":"Karande","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruti","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhaumik","family":"Gandhi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamta","family":"Muranjan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2014,3,31]]},"reference":[{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61690-0"},{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.2","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f2bcce"},{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.3","unstructured":"Introne WJ Westbroek W Golas GA , et al. Chediak-Higashi syndrome. In: Pagon RA Adam MP Bird TD . eds. GeneReviews\u2122 [Internet]. Seattle (WA): University of Washington, Seattle, 1993\u20132014. 3 Mar 2009 (updated 16 Feb 2012) http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5188\/"},{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.4","doi-asserted-by":"publisher","DOI":"10.1080\/08880010390232790"},{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.5","unstructured":"WHO. WHO child growth standards: length\/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva: World Health Organization, 2006."},{"key":"2025082707121890000_2014.mar31_1.bcr2014203763.6","unstructured":"WHO, UNICEF. WHO child growth standards and the identification of severe acute malnutrition in infants and children. A Joint Statement by the World Health Organization and the United Nations Children's Fund. 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