Prolonged Ileus in an Infant Presenting with Primary Congenital Hypothyroidism

Abstract

Congenital hypothyroidism (CH) is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS) has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement. In particular, the recalcitrant ileus and secondary bowel obstruction resulted in an additional diagnostic workup and lengthened hospital day. Our report highlights the acute gastrointestinal consequences of hypothyroidism despite evidence of effective treatment. We believe that the preclinical detection and immediate therapy for CH have lessened the prevalence of this presentation in general practice, and hence practitioners are less likely to be familiar with its natural history and management.

Congenital Bands with Intestinal Malrotation after Propylthiouracil Exposure in Early Pregnancy

“…To date, no teratogen has yet been implicated in the development of congenital bands. Although hypothyroidism may rarely result in intestinal pseudoobstruction (i.e., paralytic ileus) [ 18 ], this did not appear to be a contributing factor in our patient, as she was euthyroid at the time and had a demonstrable anatomic reason for her obstruction.…”

Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child

“…This paper describes a significant intestinal dysmotility in a one-year-old child with undiagnosed CH. Severe gastrointestinal dysfunction as a manifestation of hypothyroidism has been previously reported [ 9 – 11 ], but currently this finding is quite infrequent due to the precocious diagnosis of CH through newborn screening programs [ 4 – 7 ]. To our knowledge, it is the first report of an ARM result in a CH child.…”

“…Even though CH patients may present with intestinal dysmotility, there are few cases mimicking aganglionic megacolon [ 5 – 7 ]. Hirschsprung disease and hypothyroidism are two diseases generally considered in the differential diagnosis of bowel hypomotility and pseudo-obstruction in neonates [ 4 ]. While isolated constipation is not likely to be caused by hypothyroidism [ 10 ], severe constipation mimicking Hirschsprung disease may occur in children with CH in association with growth failure and developmental delay as here demonstrated [ 5 – 7 ].…”

“…Constipation affects approximately 12% of CH patients [ 3 ]. Both conditions, bowel hypomotility and pseudo-obstruction, in children could be associated with CH [ 4 ], but rarely this is concomitant with Hirschsprung disease [ 5 – 7 ]. On the other hand, Hirschsprung disease must be considered in the differential diagnosis of infants with severe constipation [ 5 ].…”

Study on DEHAL1 Mutations in Patients with Congenital Hypothyroidism and Thyroid Goiter

“…Congenital hypothyroidism is a common endocrine and metabolic disease in children, occurring in 1 of 3500 newborns [1] and the number of girls is two times as much as the boy [2] .CH can lead to delayed growth and mental retardation, which is commonly known as "cretinism" [3] . Congenital hypothyroidism can be divided into two major types according to its pathogenesis.…”