دورية أكاديمية
أعرض في EDS

Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.

التفاصيل البيبلوغرافية
العنوان: Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.
المؤلفون: Zheng F; Department of Pediatric Neurology, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Lin Z, Ye X, Shi X
المصدر: Medicine [Medicine (Baltimore)] 2017 Dec; Vol. 96 (51), pp. e9481.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
مواضيع طبية MeSH: Adrenoleukodystrophy/*diagnostic imaging , Brain/*diagnostic imaging , Exhibitionism/*etiology, Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/pathology ; Adrenoleukodystrophy/psychology ; Attention Deficit Disorder with Hyperactivity/etiology ; Attention Deficit Disorder with Hyperactivity/pathology ; Brain/pathology ; Child ; Exhibitionism/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Neuroimaging
مستخلص: Rationale: The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported.
Patient Concerns: An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate.
Diagnoses: We conducted contrast-enhanced brain magnetic resonance imaging (MRI), which revealed symmetrical altered signal intensities in bilateral frontal white matter, the basal ganglia, and dorsal thalami, as well as a peripheral rim of contrast enhancement. Diagnosis of adolescent cerebral X-ALD was confirmed on the basis of next generation genetic sequencing analysis.
Interventions: We initiated the patient on hormonal replacement therapy.
Outcomes: We observed rapidly progressive neurologic deterioration in this patient, and the boy fell into a vegetative state 10 months after discharge.
Lessons: We recommend that physicians should not disregard X-ALD in patients with isolated psychiatric symptoms, including hypersexual behavior. The combination of detailed clinical evaluation, MRI, and next generation genetic sequencing can expedite the diagnostic process of atypical variant of X-ALD.
(Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.)
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تواريخ الأحداث: Date Created: 20180203 Date Completed: 20180212 Latest Revision: 20221005
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC5758294
DOI: 10.1097/MD.0000000000009481
PMID: 29390592
قاعدة البيانات: MEDLINE
الوصف
تدمد:1536-5964
DOI:10.1097/MD.0000000000009481