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

Congenit Anom (Kyoto). 2017 Jan;57(1):32-34. doi: 10.1111/cga.12175.


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.

Keywords: Hirschsprung's related disease; cartilage-hair hypoplasia; isolated hypoganglionosis.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • DNA Mutational Analysis
  • Hair / abnormalities*
  • Heterozygote
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / surgery
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / surgery
  • Infant, Newborn
  • Intestinal Mucosa / metabolism
  • Intestinal Mucosa / pathology
  • Intestinal Obstruction / diagnosis
  • Intestinal Obstruction / etiology
  • Intestinal Obstruction / surgery
  • Male
  • Mutation
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / surgery
  • Primary Immunodeficiency Diseases
  • RNA, Long Noncoding / genetics
  • Radiography, Abdominal


  • RMRP non-coding RNA, human
  • RNA, Long Noncoding

Supplementary concepts

  • Aganglionosis, total intestinal
  • Cartilage-hair hypoplasia