Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation.

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

Neurocase

journal_title

Neurocase

authors

Yliranta A,Mäkinen J

doi

10.1080/13554794.2020.1856384

subject

Has Abstract

pub_date

2020-12-09 00:00:00

pages

1-7

eissn

1355-4794

issn

1465-3656

pub_type

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