Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report

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• 作者：Yoshitomo Yasui ; Miyuki Kohno ; Syouichi Nishida ; Tsubasa Shironomae ; Miwa Satomi ; Tsuyoshi Kuwahara ; Sadayoshi Takahashi and Yo Niida
• 刊名：Congenital Anomalies
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：57
• 期：1
• 页码：32-34
• 全文大小：857K
• ISSN：1741-4520

文摘

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.