Lysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome Chediak-Higashi Sendromunda Lizozomal Veziküller, Dev Granüller ve Eritrofagositoz
نویسندگان
چکیده
منابع مشابه
Lysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome
A 3-year-old boy presented with recurrent infections. Physical examination revealed hepatosplenomegaly, bilateral cervical lymphadenopathy, silvery gray hair, and bilateral nystagmus. Giant granules in lymphocytes, monocytes, and granulocytes were seen on blood smear (Figure A). Bone marrow aspirate exhibited erythrophagocytosis and numerous giant granules of predominantly myeloid lineage (Figu...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملChediak-Higashi Syndrome
Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
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ژورنال
عنوان ژورنال: Turkish Journal of Hematology
سال: 2014
ISSN: 1300-7777
DOI: 10.4274/tjh.2013.0210