Which physical findings are characteristic of a less severe form of Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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About 10-15% of patients follow a less severe clinical course of CHS—the adolescent and adult forms. These children present with mostly subtle hypopigmentation; a lower frequency of infections during childhood, adolescence, and adulthood; and mild bleeding manifestations. They survive until adulthood without experiencing an accelerated phase. Nonetheless, during adolescence or adulthood, they develop progressive neurologic symptoms, including intellectual deficit, dementia, peripheral neuropathy, parkinsonism, balance abnormalities, and tremor. [14]

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