Abstract:
:Chediak-Higashi syndrome (CHS) is a rare autosomal disorder characterized by immunodeficiency, albinism, and progressive neurologic abnormalities. While survivors of the childhood-onset disease are known to exhibit learning disabilities and neuropsychiatric disorders followed by middle-age dementia, we lack detailed data on the progression. We present the case of a young adult with records from infancy to the first signs of deterioration. An early neuropsychological and neuropsychiatric profiling is crucial to intervention selection as children with CHS may not benefit from regular special education. Our patient never showed neuropsychiatric symptoms but high levels of socioemotional adaptability.
journal_name
Neurocasejournal_title
Neurocaseauthors
Yliranta A,Mäkinen Jdoi
10.1080/13554794.2020.1856384subject
Has Abstractpub_date
2020-12-09 00:00:00pages
1-7eissn
1355-4794issn
1465-3656pub_type
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