Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
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.
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Yoshitomo
Y
Yasui
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Miyuki
M
Kohno
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Syouichi
S
Nishida
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Tsubasa
T
Shironomae
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Miwa
M
Satomi
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Tsuyoshi
T
Kuwahara
Department of Pediatric Surgery, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Sadayoshi
S
Takahashi
Division of Genomic Medicine, Department of Advanced Medicine, Kanazawa Medical University, Kahoku, Ishikawa, Japan.
Yo
Y
Niida
D001706:Biopsy; D004252:DNA Mutational Analysis; D006197:Hair / Q000002:abnormalities*; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D007415:Intestinal Obstruction / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000081207:Primary Immunodeficiency Diseases; D062085:RNA, Long Noncoding / Q000235:genetics; D011860:Radiography, Abdominal
C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding
Hirschsprung's related disease; cartilage-hair hypoplasia; isolated hypoganglionosis