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Chediak-Higashi syndrome: pathognomonic feature

✍ Scribed by Antunes, Henedina; Pereira, Ângela; Cunha, Isabel

Book ID
121910216
Publisher
The Lancet
Year
2013
Tongue
English
Weight
1012 KB
Volume
382
Category
Article
ISSN
0140-6736

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Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We describe the case of a 24-year-old woman with parkinsonism that responded well to