Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion.

Autor:	Bos-Roubos AG; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray.; Donders Institute for Brain, Cognition and Behaviour, Radboud University., Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray.; Donders Institute for Brain, Cognition and Behaviour, Radboud University.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen., Giesen M; Inforsa, Hilversum., Kersseboom R; Zuidwester Healthcare Institution for People with Intellectual Disabilities, Middelharnis.; Department of Internal Medicine, Erasmus University Medical Center., De Graaff LCG; Department of Internal Medicine, Erasmus University Medical Center.; Center for Adults With Rare Genetic Syndromes, Erasmus University Medical Center, Rotterdam, The Netherlands., Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray.; Donders Institute for Brain, Cognition and Behaviour, Radboud University.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen.
Jazyk:	angličtina
Zdroj:	Journal of hypertension [J Hypertens] 2024 Jan 01; Vol. 42 (1), pp. 179-184. Date of Electronic Publication: 2023 Sep 12.
DOI:	10.1097/HJH.0000000000003565
Abstrakt:	This case report aims to alert physicians to neuropsychological features and chromosomal variants that may underly resistant hypertension. We present a 35-year-old female patient with hypertensive crisis (BP 260/160 mmHg), initially treated with a combination of calcium antagonists, beta blockers, diuretics and angiotensin-converting enzyme (ACE)-inhibitors, though with little improvement. Cushing's syndrome, Conn's syndrome, and glucocorticoid receptor deficiency were ruled out. Multidisciplinary examination of medical history and (hetero)anamneses including psychosocial factors revealed mild dysmorphic body features, developmental delay, early diagnosis of autism spectrum disorder, a history of being bullied at school, little peer contact, learning disabilities, and special education. Neuropsychological assessment demonstrated below average to low average intelligence quotient, cognitive impairments, and psychopathology. Parallel genetic analyses revealed a rare 16p11.2 microdeletion syndrome. These concurrent examinations explained the patient's life-long high stress levels. After psychological treatment, with additional support at home, her blood pressure lowered to normal levels and antihypertensive drugs were no longer needed. (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
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