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題名 | Cerebellar Dysgenesis in Infants and Children: An Experience of 22 Cases=小腦發育不全:二十二嬰幼兒病例之回顧 |
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作者 | 楊敏子; 陳昭惠; 遲景上; 麥淑珍; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 37:5 民85.09-10 |
頁次 | 頁342-348+389 |
分類號 | 417.5836 |
關鍵詞 | 小腦發育不全; Dandy-walker畸型症; Cerebellar hypoplasia; Cerebellar dysgenesis; Dandy-walker malformation; |
語文 | 英文(English) |
中文摘要 | 小腦發育不全之患童源自於多種病因:亦可同時合併其他神經系統或非神經系統之異常。因此,此類患童在臨床上有不同之表徵及預後。在過去十年內,在本院小兒科共有二十二例,經腦部超音波、電腦斷層或磁振造影確定診斷爲小腦發育不全之病例,其中10例是男性;12例是女性。平均診斷年紀是5.79個月。在這些患童中有三例是單純性小腦發育不全。一例為Dandy-Walker畸型症,七例合併天幕上之神經系統異常;包括有平腦、胼胝體發育不全等。六例有染色體異常。三例為Joubert症候群。另兩例有合併其他畸型,卻無法歸類為特殊症群。在此分類上,特別將合併天幕上之神經系統異常者,歸為一類。此類病例在過去常歸為Dandy-walker畸型症或Dandy-Walker雙異型。在此回顧探討中,可發現單純性小腦發育不全及Dandy-Walker畸弄症病童之神經學發展正常。而有合併天幕上神經系統異常、或合併染色體異常者,常合併精神運動發育連緩。此分類有助於臨床醫師對此類患童之治療及追蹤。但仍需更多臨床病例之探討。使吾人對小腦發育不全之分類、治療及預後,有更明確之認知。 |
英文摘要 | There were a total of 22 cases of cerebellar dysgenesis documented by brain sonogram, and by brain computer-tomography scan, and/or brain magnetic resonance imaging (MRI) in our department over the past 10 years. There were ten males and twelve females. The mean age at diagnosis was 5.79 months. The follow-up period ranged from 2 days to 132 months. Seven cases were suspected upon prenatal examination. Three cases presented with isolated cerebellar hypoplasia, one with Dandy-Walker malformation and three with Joubert syndrome. Seven cases presented with cerebellar dysgenesis complicated with supratentorial brain dysgenesis. Among them, three had vermis hypoplasia with hypoplasia of the corpus callosum, 1 had vermis hypoplasia with holoprosencephaly, 1 had cerebellar hypoplasia with lissencephaly and hypoplasia of corpus callosum, 1 had vermis hypoplasia, agenesis of the corpus callosum and pachygyria, and 1 had cerebellar hypoplasia, hypoplasia of corpus callosum and midline cystic malformation. They all showed severe psychomotor retardation. Six cases showed chromosome anomalies. The neurological outcome for cases with isolated cerebellar hypoplasia was better than the outcome of the complicated cases. MRI is recommended for patients with microcephaly to check for the possibility of combined sup ratentorial brain dysgenesis. When performing MRI, a median sagittal view should be included. A classification for clinical approach was presented at the same time. In this retrospective study, this classification seemed to have benefits in prediction of clinical outcomes. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。