Chediak-Higashi syndrome presenting in the accelerated phase
Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containi...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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South African Medical Association
2017-07-01
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| Series: | South African Journal of Child Health |
| Online Access: | http://www.sajch.org.za/index.php/SAJCH/article/view/1368/769 |
| _version_ | 1797368060088156160 |
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| author | Subramani Palaniyandi Umapathy Pasupathy Latha Ravichandran Aruna Rajendran Febe Renjitha Suman Sasitharan R Prasad |
| author_facet | Subramani Palaniyandi Umapathy Pasupathy Latha Ravichandran Aruna Rajendran Febe Renjitha Suman Sasitharan R Prasad |
| author_sort | Subramani Palaniyandi |
| collection | DOAJ |
| description | Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis. |
| first_indexed | 2024-03-08T17:26:02Z |
| format | Article |
| id | doaj.art-c99abcd0a13e47d4b29a1abd98639cb1 |
| institution | Directory Open Access Journal |
| issn | 1994-3032 1999-7671 |
| language | English |
| last_indexed | 2024-03-08T17:26:02Z |
| publishDate | 2017-07-01 |
| publisher | South African Medical Association |
| record_format | Article |
| series | South African Journal of Child Health |
| spelling | doaj.art-c99abcd0a13e47d4b29a1abd98639cb12024-01-02T19:20:13ZengSouth African Medical AssociationSouth African Journal of Child Health1994-30321999-76712017-07-0111210410610.7196/SAJCH.2017.v11i2.1277Chediak-Higashi syndrome presenting in the accelerated phaseSubramani Palaniyandi0Umapathy Pasupathy1Latha Ravichandran2Aruna Rajendran3Febe Renjitha Suman4Sasitharan R Prasad5Department of Paediatrics, Sri Ramachandra University, Chennai, IndiaDepartment of Paediatrics, Sri Ramachandra University, Chennai, IndiaDepartment of Paediatrics, Sri Ramachandra University, Chennai, IndiaDepartment of Paediatrics, Sri Ramachandra University, Chennai, IndiaDepartment of Pathology, Sri Ramachandra University, Chennai, IndiaDepartment of Paediatrics, Sri Ramachandra University, Chennai, IndiaChediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis.http://www.sajch.org.za/index.php/SAJCH/article/view/1368/769 |
| spellingShingle | Subramani Palaniyandi Umapathy Pasupathy Latha Ravichandran Aruna Rajendran Febe Renjitha Suman Sasitharan R Prasad Chediak-Higashi syndrome presenting in the accelerated phase South African Journal of Child Health |
| title | Chediak-Higashi syndrome presenting in the accelerated phase |
| title_full | Chediak-Higashi syndrome presenting in the accelerated phase |
| title_fullStr | Chediak-Higashi syndrome presenting in the accelerated phase |
| title_full_unstemmed | Chediak-Higashi syndrome presenting in the accelerated phase |
| title_short | Chediak-Higashi syndrome presenting in the accelerated phase |
| title_sort | chediak higashi syndrome presenting in the accelerated phase |
| url | http://www.sajch.org.za/index.php/SAJCH/article/view/1368/769 |
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