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 |
| Published: |
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 |
| Summary: | 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. |
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| ISSN: | 1994-3032 1999-7671 |