Clinical and Laboratory ObservationsHirschsprung disease associated with severe cartilage-hair hypoplasia☆
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)
- et al.
Increased incidence of cancer in patients with cartilage-hair hypoplasia
J Pediatr
(1999) - et al.
Dwarfism in the Amish II. Cartilage-hair hypoplasia
Bull Johns Hopkins Hosp
(1965) - et al.
Cartilage-hair hypoplasia: clinical manifestations in 108 Finnish patients
Eur J Pediatr
(1993) - et al.
Cellular and humoral immunity in cartilage-hair hypoplasia
Pediatr Res
(1978) Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients
J Med Genet
(1992)- et al.
Cartilage-hair hypoplasia
Cited by (0)
- ☆
Reprint requests: Outi Mäkitie, MD, Hospital for Children and Adolescents, Helsinki University Hospital, PO Box 281, Helsinki, FIN-00029, Finland.