Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report.
Abstract
[BACKGROUND] Liver transplant (LT) is considered curative for Wilson disease (WD) with hepatic failure refractory to medical therapy, particularly when neurologic symptoms are absent.
[CASE REPORT] A 29-year-old man with WD developed progressive generalized dystonia five years after LT. He presented with acute-on-chronic neck pain, dysphagia, and dystonic posturing of the neck, trunk, and upper and lower extremities. MRI brain and copper studies were normal. Genetic testing confirmed two heterozygous pathogenic variants. Symptoms improved with botulinum toxin injections.
[DISCUSSION] Post-LT neurologic complications may arise from copper dysregulation, immunosuppressant neurotoxicity, or unrelated primary dystonia. Early recognition enables effective symptomatic management.
[CASE REPORT] A 29-year-old man with WD developed progressive generalized dystonia five years after LT. He presented with acute-on-chronic neck pain, dysphagia, and dystonic posturing of the neck, trunk, and upper and lower extremities. MRI brain and copper studies were normal. Genetic testing confirmed two heterozygous pathogenic variants. Symptoms improved with botulinum toxin injections.
[DISCUSSION] Post-LT neurologic complications may arise from copper dysregulation, immunosuppressant neurotoxicity, or unrelated primary dystonia. Early recognition enables effective symptomatic management.
추출된 의학 개체 (NER)
| 유형 | 영어 표현 | 한국어 / 풀이 | UMLS CUI | 출처 | 등장 |
|---|---|---|---|---|---|
| 시술 | botulinum toxin
|
보툴리눔독소 주사 | dict | 1 | |
| 해부 | Liver
|
scispacy | 1 | ||
| 해부 | trunk
|
scispacy | 1 | ||
| 합병증 | hepatic failure
|
scispacy | 1 | ||
| 합병증 | acute-on-chronic neck
|
scispacy | 1 | ||
| 합병증 | neck
|
scispacy | 1 | ||
| 합병증 | upper
|
scispacy | 1 | ||
| 합병증 | extremities
|
scispacy | 1 | ||
| 약물 | copper
|
C0009968
copper
|
scispacy | 1 | |
| 약물 | [BACKGROUND] Liver transplant
|
scispacy | 1 | ||
| 질환 | Dystonia
|
C0013421
Dystonia
|
scispacy | 1 | |
| 질환 | Wilson Disease
|
C0019202
Hepatolenticular Degeneration
|
scispacy | 1 | |
| 질환 | hepatic failure
|
C0085605
Liver Failure
|
scispacy | 1 | |
| 질환 | when neurologic symptoms
|
C0235031
Neurologic Symptoms
|
scispacy | 1 | |
| 질환 | acute-on-chronic neck pain
|
scispacy | 1 | ||
| 질환 | dysphagia
|
C0011168
Deglutition Disorders
|
scispacy | 1 | |
| 질환 | dystonic posturing of the neck, trunk
|
scispacy | 1 | ||
| 질환 | neurotoxicity
|
C0235032
Neurotoxicity Syndromes
|
scispacy | 1 | |
| 질환 | brain
|
scispacy | 1 | ||
| 기타 | Patient
|
scispacy | 1 | ||
| 기타 | man
|
scispacy | 1 |
MeSH Terms
Humans; Hepatolenticular Degeneration; Male; Liver Transplantation; Adult; Copper-Transporting ATPases; Dystonia; Dystonic Disorders; Postoperative Complications
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