Clinical and Laboratory Observations
Hirschsprung disease associated with severe cartilage-hair hypoplasia

https://doi.org/10.1067/mpd.2001.113632Get rights and content

Abstract

Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure and a higher incidence of alopecia, infections, malignancies, and childhood anemia than the patients with cartilage-hair hypoplasia who did not have Hirschsprung disease. (J Pediatr 2001;138:929-31)

Section snippets

Patients and Methods

The diagnosis of CHH was based on clinical, radiologic, and genealogic features.1, 2, 4 HD was diagnosed by clinical history, barium enema, routine hematoxylin-eosin histologic staining for the detection of ganglion cells, and histochemical staining for acetyl-cholinesterase activity of the neural elements of the bowel wall.

Patients with CHH were identified through 2 epidemiologic surveys carried out in Finland in 19745 and 1986.4 Since 1986 we have received information on all patients with CHH

Results

There were 10 male and 3 female patients with HD (Table I); in 9 the aganglionic segment was limited to the rectosigmoid (classic HD), in 1 the colon distal to the hepatic flexure was affected (long segment HD), and 3 had total colon HD.All the patients had undergone operative treatment. Five patients had died (Table II).

All the patients had severe growth failure with prenatal onset (Table I, Table II). The last available height SD score of the 11 patients with HD surviving >1 month were below

Discussion

The association of CHH and HD has been confirmed in previous studies.1, 2 The results of this study suggest that HD is associated especially with severe forms of CHH. In general, the patients with HD and CHH had more severe growth failure than the patients with CHH alone. The median length of the patients with HD was already significantly lower at birth than that of the patients with CHH who did not have HD, suggesting that the difference in growth was not due to complications of HD. The growth

References (12)

  • O Mäkitie et al.

    Increased incidence of cancer in patients with cartilage-hair hypoplasia

    J Pediatr

    (1999)
  • VA McKusick et al.

    Dwarfism in the Amish II. Cartilage-hair hypoplasia

    Bull Johns Hopkins Hosp

    (1965)
  • O Mäkitie et al.

    Cartilage-hair hypoplasia: clinical manifestations in 108 Finnish patients

    Eur J Pediatr

    (1993)
  • M Virolainen et al.

    Cellular and humoral immunity in cartilage-hair hypoplasia

    Pediatr Res

    (1978)
  • O Mäkitie

    Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

    J Med Genet

    (1992)
  • I Kaitila et al.

    Cartilage-hair hypoplasia

There are more references available in the full text version of this article.

Cited by (0)

Reprint requests: Outi Mäkitie, MD, Hospital for Children and Adolescents, Helsinki University Hospital, PO Box 281, Helsinki, FIN-00029, Finland.

View full text