病例报告:1型神经纤维瘤病伴智力残疾儿童1例

Elice Wijaya, Nitu Karna, Ida Ayu Uttari Priyadarshini
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摘要

背景:神经纤维瘤病是一种遗传性疾病,表现为神经周围的肿瘤和其他几种病理表现。病例:女,11岁,病史、体格检查及辅助调查符合1型神经纤维瘤病(NF-1)诊断标准。病人也有智力障碍。在患者身上,在足部发现了一个功能性致残的肿瘤,并进行了手术治疗。讨论:认知障碍是NF-1患者最常见的神经系统并发症,通常表现为低智商。目前还没有专门的治疗方法来预防NF-1的发展。然而,早期治疗可以减少和预防进一步的并发症。对病人的治疗涉及多个临床学科。结论:神经纤维瘤病病例可以单独诊断,然而,因为有许多其他系统性的累及需要多学科的方法。
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Case report: a child with type 1 neurofibromatosis and intellectual disability
Background: Neurofibromatosis is a genetic disorder which manifests as a tumor that surrounds the nerves and several other pathologic presentations.Case: Female, 11 years old, according to history, physical examination and supporting investigation was consistent with the diagnostic criteria of type 1 neurofibromatosis (NF-1). Patient also has intellectual disability. On the patient, a tumor on the foot region that was functionally disabling was found and a surgical treatment was performed.Discussion: Cognitive disorder is the most common neurological complication in individuals with NF-1 and usually present with low intelligence quotient (IQ). There is no specific treatment to prevent the development of NF-1. However, early treatment can minimize and prevent further complication. Treatment for the patient involve multiple clinical discipline.Conclusion: A neurofibromatosis case can be diagnosed clinically alone, however, since there are many other systemic involvements that require multi-disciplinary approach.
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