Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation
| Autor: | Jussi Mäkinen, Aino Yliranta |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Bone marrow transplantation 050105 experimental psychology Young Adult 03 medical and health sciences 0302 clinical medicine Arts and Humanities (miscellaneous) hemic and lymphatic diseases medicine Humans 0501 psychology and cognitive sciences Child Immunodeficiency Bone Marrow Transplantation integumentary system business.industry Chédiak–Higashi syndrome 05 social sciences Neuropsychology Infant medicine.disease Behavioral data Neurologic abnormalities Albinism Neurology (clinical) Chediak-Higashi Syndrome business Neurocognitive 030217 neurology & neurosurgery |
| Zdroj: | Neurocase. 27:1-7 |
| ISSN: | 1465-3656 1355-4794 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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