Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
复制标题
与孤立性神经节减退症相关的软骨毛发育不全：病例报告。
DOI：
10.1111/cga.12175
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Niida Y.
中科院分区：
文献类型：
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作者：
Yasui Y;Kohno M;Nishida S;Shironomae T;Satomi M;Kuwahara T;Takahashi S;Niida Y.
腕毛发育不全是一种罕见的干骺端软骨发育不良，其临床表现多样，先天性巨结肠的发病率高。我们报告一例男性患者，软骨-毛发发育不全伴严重肠梗阻。核糖核酸酶线粒体RNA加工复合物基因的遗传分析鉴定出复合杂合突变与先前报道的突变一致：n. -14_3dupGAAGCTGAGGACGTGGT和n. 183 G> T。首先，我们认为肠梗阻是由于广泛型先天性巨结肠症，但后来证实为孤立性神经节细胞减少症。孤立性神经节细胞减少症是罕见的，它的治疗策略还没有很好地建立。对于与严重肠梗阻相关的软骨毛发发育不全的病例，不仅应考虑先天性巨结肠症的鉴别诊断，还应考虑孤立性神经节细胞减少症的鉴别诊断。
Cartilage‐hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage‐hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA‐processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.‐14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage‐hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.