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Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report
Author(s) -
Yasui Yoshitomo,
Kohno Miyuki,
Nishida Syouichi,
Shironomae Tsubasa,
Satomi Miwa,
Kuwahara Tsuyoshi,
Takahashi Sadayoshi,
Niida Yo
Publication year - 2017
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12175
Subject(s) - hypoplasia , cartilage , medicine , pathology , anatomy
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.