- 期刊
Late Infantile Type Neuronal Ceroid Lipofuscinosis: Report of One Case
晚發嬰兒型神經元蠟樣脂褐質沈著病：一病例報告
摘要
一個四歲十個月大的男孩表現出漸行性癡呆，視力喪失，言語及運動功能退化，以及肌陣攣。深部肌腱反射過強，無肌肉衰弱或肝腫大。血清中乳酸、焦葡萄鹽及氨值正常。眼底鏡檢顯示視網膜色素上皮斑駁化。腦波可見雙側頂枕部有不規則棘波或多棘波以及單獨的局部棘波，視覺誘發電位與視網膜電圖皆是水平的變化，體感覺誘發電位顯示電樞傳導時間延長，腦幹聽覺誘發電位正常。腦部核磁共振造影現瀰漫性大腦及小腦萎縮。眼結膜切片發現鱗狀上皮細胞內有電子緻密性包涵體。證實診斷爲神經元蠟樣脂袍質沈著病。本病尚無特異性療法。患孩於追蹤期間定期復健，因爲偶而才有一次癲癇發作，故未規則服用抗癲癇藥物。其視力逐漸惡化，並退化爲無法言語溝通及獨立行走。本文將討論神經元蠟樣旨褐質沈著病各亞型的臨床特點、影像學變化、病理學特徵、治療與産前診斷之發展。
並列摘要
A 4-year-b-month-old boy with late infantile type neuronal ceroid lipofuscinosis was reported. He presented with progressive dementia, loss of visual acuity, gradual regression of speech and motor functions, and myoclonic jerks. A hyperactive deep tendon reflex was noted, but there was neither muscle weakness nor hepatomegaly. Serum lactate, pyruvate and ammonia levels were within normal limits. The funduscopic examination showed diffuse mottling of the retinal pigmented epithelium. The electroencephalogram showed irregular bilateral spike-and-waves or polyspike-and-waves and isolated focal spikes from the bilateral parieto-occipital regions. The wave forms of visual evoked potentials were flat. The electroretinogram was unrecordable. The somatosensory evoked potentials showed prolonged central conduction times from bilateral median nerves. The brainstem auditory evoked potentials were within normal limits. Diffuse cerebral and cerebellar atrophy were noted on magnetic resonance imaging. The diagnosis was confirmed by the electron-dense cytoplasmic inclusion bodies within the conjunctival squamous epithelial cells. No specific treatment was available. Regular anticonvulsants were not given during follow-up because seizures attacked him only on occasion. His visual acuity was progressively impaired. In addition to nearly total absence of speech, an inability to communicate and walk independently was also noted. The clinical features according to the subtypes, radiology, pathology, managements and prenatal diagnosis for this case are discussed.