Hallervorden-Spatz Syndrome Presenting as Bilateral Optic Atrophy-A Case Report

病例報告：Hallervorden-Spatz Syndrome

潘怡文(I-Wen Pan) ； 林睦秋(Muh-Chiou Lin) ； 許淑娟(Shwu-Jiuan Sheu)

《中華民國眼科醫學會雜誌》 48卷2期 (2009/06) Pp. 171-176

https://doi.org/10.30048/ACTASOS.200906.0008

摘要

目的：報告一病例最初以雙側視神經萎縮表現之罕見疾病：HALLERVORDEN-SPATZ症候群。
摘要：一位16歲女孩自10歲起出現雙眼視力模糊，之後伴隨有步態不穩、內八字走路的型態。眼科檢查結果發現雙眼視神經萎縮，雙眼視覺誘發電位降低。病患之腦部磁振照影顯示為典型老虎眼表現。綜合上述病症狀，此病患之診斷為一罕見疾病 HALLERVORDEN-SPATZ症候群。此外，病患之血清學以及骨髓檢查排除其他遺傳疾病之可能性。
在年輕族群產生之漸進性雙眼視神經萎縮同時合併有神經方面缺陷必須要提高警覺，要排除此一罕見疾病之可能性。

並列摘要

Purpose: Hallervorden-Spatz syndrome is a relatively rare neurodegenerative disorder with multiple neurological involvements. We report a young girl presented with bilateral optic atrophy, neurological deficits as well as positive MRI findings.
Methods: Case report.
Results: A 16-year-old girl presented initially with progressive blurred vision since she was around 10 years old. Unsteady gait accompanied with deterioration of motor function which resulted in easy falling down happened about one year later. Academic performance went backward thereafter. During examination at our OPH OPD, bilateral optic atrophy with non-corrected poor vision was noted. MRI disclosed marked symmetrical hypodensity of the globi pallidi and substantia nigra. VEP report revealed delayed response of both eyes. All of the above findings lead to the diagnosis of Hallervorden-Spatz syndrome.
Conclusion: The occurrence of progressive optic atrophy in all adolescents should raise the importance of accurate neurological work-up in case to rule out the possibility of Hallervorden-Spatz syndrome.

並列關鍵字

Hallervorden-Spatz syndrome ； optic atrophy