Chediak–Higashi Syndrome Presented With Hemophagocytic Lymphohistiocytosis

Bone marrow aspirate exhibited erythrophagocytosis and numerous giant granules of predominantly myeloid lineage [Figure 1]a. Examination of the hair showed an irregular distribution of large and small pigment clumps [Figure 1]b. Magnetic resonance imaging of the brain showed diffuse cerebral atrophi...

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Bibliographic Details
Published inIndian journal of medical and paediatric oncology Vol. 39; no. 1; pp. 122 - 123
Main Authors Karaman, Kamuran, Akbayram, Sinan, Geylan, Hadi, Çetin, Mecnun
Format Journal Article
LanguageEnglish
Published A-12, 2nd Floor, Sector 2, Noida-201301 UP, India Thieme Medical and Scientific Publishers Pvt. Ltd 01.01.2018
Wolters Kluwer India Pvt. Ltd
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Subjects
Blood
Bone marrow
Fever
Hematology
Letter to Editor
NMR
Nuclear magnetic resonance
Pediatrics
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Summary:Bone marrow aspirate exhibited erythrophagocytosis and numerous giant granules of predominantly myeloid lineage [Figure 1]a. Examination of the hair showed an irregular distribution of large and small pigment clumps [Figure 1]b. Magnetic resonance imaging of the brain showed diffuse cerebral atrophic [Figure 1]c. The girl's parents were consanguineous.{Figure 1}{Table 1} CHS is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, recurrent respiratory system and pyogenic infections and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors.In our case, fever, anemia, neutropenia, thrombocytopenia, low fibrinogen level, high transaminase level, hypertriglyceridemia, hyperbilirubinemia, histiocytes demonstrating erythrophagocytosis in bone marrow aspiration were detected.
ISSN:0971-5851
0975-2129
DOI:10.4103/ijmpo.ijmpo_54_16