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SUMMARY: Eren M, Çelik M, Kimk S, Arda IS. A case of Hirschsprung disease: does thyroid hormone have any effect? Turk J Pediatr 2009; 51: 94-96.
Hirschsprung disease, the colonization defect of neural crest cells through the colon, is one of the reasons for functional obstruction in neonates. Furthermore, hypothyroidism has been known to be one of the causes of bowel hypomotility and pseudoobstruction. These two diseases are generally considered in the differential diagnosis. Although defective thyroid function has been found to be responsible for inappropriate neuronal migration in the brain, the effect of thyroid hormone on neural crest cell migration to the bowel has not yet been evaluated. Here, we report a case with Hirschsprung disease and congenital hypothyroidism, which may point to the need for future studies evaluating the interaction of colonic neural crest cell colonization and thyroid hormone.
Key words: thyroid hormone, Hirschsprung disease, neural migration.
Hirschsprung disease (HD), the congenital absence of ganglion cells in the myenteric and submucosal plexus, is caused by the failure of the enteric nervous system (ENS) precursors to colonize the distal intestine. As a result, the affected segment of the colon fails to relax, causing a functional obstruction.
Approximately 15% of patients with HD present with at least one congenital anomaly, including cardiac, genitourinary, and skeletal anomalies, and 12% of HD cases are associated with chromosomal anomalies, with Down syndrome the most prevalent1'2. However, to date, HD and hypothyroidism have been considered in the differential diagnosis rather than their concomitant existence. Ongoing researches have clarified that alterations in thyroid function during embryogenesis and fetal development are known to produce extensive damage to the central nervous system, including severe mental retardation3. Thyroid hormone is necessary for appropriate neuronal migration and lamination during brain development4. Although hypothyroidism impairs the colonic motility and function, whether or not deficient thyroid hormone can lead to arrest of neural crest cell migration through the bowel has not yet been studied. Here, we report a case of HD together with congenital hypothyroidism, whose mother was subclinical hypothyroid.
Case Report
A two-hour-old boy, weighing 3740 g at birth, was referred to our hospital with the complaint of poor sucking and agitation. Other than absence of sucking reflex, his physical examination was normal....