Neuroimage in Infants and Children with Mitochondrial Disorders

兒童粒腺體疾病之神經造影

夏文傑(Wen-Jye Shian) ； 遲景上(Ching-Shiang Chi) ； 麥淑珍(Suk-Chun Mak)

《Acta Paediatrica Sinica》 37卷2期 (1996/04) Pp. 96-102

https://doi.org/10.7097/APS.199604.0096

摘要

此篇乃針對三十八位幼兒及兒童，被診斷爲粒腺體疾病，其神經造影影像，作一回顧性之分析；其中包括了二十四次的超音波，二十一次的電腦斷層攝影，以及二十七次的磁振造影。病人的診斷方面，包含了十七位Leigh症候群，兩位Kearns-Sayre症候群 (KSS），一位肌抽躍癲癇併紅色破碎肌纖維 (MERRF），一位Alpers病，五位Menkes病，兩位脂肪酸代謝缺損，兩位Rett症候群，以及八位非特異性的粒腺體疾病。KSS及MERRF發生在較大的兒童，而Leigh症候群，Menkes病，及Alpers病則發生在幼兒及較小的兒童。在KSS及Leigh症候群，大腦白質及深部大腦核的侵犯，是常見的現像。在Menkes及Alpers病，可發現硬腦膜下血腫塊或積水，併嚴重的腦萎縮；除此之外，Menkes病也可發現在基底處，Willis環，以及大腦血管處，有扭曲的現像。對於Rett症候群，脂肪酸代謝缺損，以及大部份的非特異性的粒腺體疾病而言，曉以大義斷層攝影及磁胯造影檢查，呈現出正常的影像。我們的結果顯示，對於特殊粒體疾病症候群，神經造影檢查有其特異性的發現。

關鍵字

腦部 ； 粒腺體疾病 ； 神經造影

並列摘要

Neuroimage studies of thirty-eight infants and children with mitochondrial disorders were reviewed: 24 ultrasound (US), 21 computed tomography (CT), and 27 magnetic resonance image (MRI) examinations were analyzed. Patients included seventeen with Leigh syndrome, two with Kearns-Sayre syndrome (KSS), one with myoclonus, epilepsy, and ragged red fibers (MERRF), one with Alpers disease, five with Menkes disease, two with fatty acid metabolic defect, two with Rett syndrome, and eight with unspecified mitochondrial disorders. KSS and MERRF tended to occur in older children, whereas Leigh syndrome, Menkes disease, and Alpers disease occurred in infants and young children. The deep cerebral nuclei and the cerebral white matter were commonly involved in Leigh syndrome and KSS. Subdural hematomas or effusions with profound cerebral atrophy was found in Alpers disease and Menkes disease. Tortuosities of basilar, Willis circle, and cerebral vessels were also noted in Menkes disease. MRI and CT examinations of Rett syndrome, fatty acid metabolic defect, and most of the unspecified mitochondrial disorders were normal. Our results indicate that neuroimage studies have characteristic findings for specific mitochondrial syndromes.

並列關鍵字

brain ； mitochondrial disorders ； neuroimage