What are the possible complications 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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The thrombocytopenia and depletion of coagulation factors lead to petechiae, bruising, and gingival bleeding. Renal function may be impaired because of the involvement of the renal tubular epithelium. The progressive visual loss and the constriction of visual field can occur.

Chédiak-Higashi syndrome (CHS) patients are affected by frequent and severe pyogenic infections secondary to the abnormal functions of polymorphonuclear leukocytes. Most children with CHS receive early attention because of troublesome recurrent bacterial infections. The most common sites of infection are the skin, respiratory tract, and mucous membranes. Staphylococcus and Streptococcus are the species most frequently isolated from these sites. Periodontal disease and bone loss of dental alveoli associated with various microorganisms are common.

CHS may present with neurologic dysfunction and should be considered in the differential diagnosis of children and young adults first seen with symptoms of spinocerebellar degeneration or movement disorders. Common physical findings include motor and sensory neuropathies, ataxia, tremors, cranial nerve palsies, low cognitive abilities, learning disabilities, and seizures. Patients who survive to the second or third decade may exhibit neurologic deterioration, including parkinsonism and dementia, and are often confined to a wheelchair. [14]

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