Differentiating Cretinism from other diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Cretinism must be differentiated from other diseases that cause a failure to pass meconium or abdominal distension in infants, including meconium plug syndrome, small left colon syndrome, and Hirschsprung's disease.

Differentiating cretinism from other Diseases

Cretinism must be differentiated from other diseases that cause a failure to pass meconium or abdominal distension in infants, including meconium plug syndrome, small left colon syndrome, and Hirschsprung's disease.

Disease	Prominent clinical features	Radiological findings
Cretinism (Congenital hypothyroidism)	Most infants are born asymptomatic.^[1] Symptoms, if present, may include, but not limited to: Macroglossia Hoarse cry Umbilical hernia Puffy facies Increased head circumference Hypothermia
Meconium plug syndrome	Transient intestinal obstruction for 1-2 days after birth. Obstruction is functional due to dilated colon and delayed passage of feces. Usually seen in premature infants.^[2]	Abdominal x-ray with contrast showing inspissated meconium in the intestine, proximal to the colon - Case courtesy of Radswiki, Radiopaedia.org, rID 11606
Small left colon syndrome	Reduced caliber of the colon starting from splenic flexure and going down, causing intestinal obstruction. Characterized by a sudden change of the colon diameter. Usually associated with gestational diabetes.^[3]	Abdominal x-ray with contrast, shows decreased caliber of the descending and sigmoid colon, loss of haustration along with filling defects corresponding to retained feces - Case courtesy of Dr Eric F Greif, Radiopaedia.org, rID 30024
Distal small intestine/colon atresia	Failure to pass meconium due to failure of intestine recanalization. Proximal lesions have an earlier onset of symptoms than distal lesions. Colonic atresia may affect normal children or may be associated with other abnormalities as Hirschsprung's disease or gastroschisis.^[4]	Normal appearing colon that is small and unused. Contrast fills the whole colon and passes to the ileum - Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID 5959
Meconium ileus	Intestinal obstruction due to inspissation of meconium in the distal ileum. Most cases of meconium ileus are secondary to cystic fibrosis. Typically presents with failure to pass meconium and abdominal distension with or without vomiting. Meconium ileus may first present with complications, including perforation and volvulus.^[5]	Contrast enema shows inspissated meconium starting from the mid-sigmoid colon and going up till the splenic flexure. The colon is normal in diameter, ruling out microcolon - Case courtesy of Dr Michael Sargent, Radiopaedia.org, rID 6009

References

↑ "Elementary school performance of children with congenital hypothyroidism. New England Congenital Hypothyroidism Collaborative". J. Pediatr. 116 (1): 27–32. 1990. PMID 2295961.
↑ Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb GW, Snyder CL (2008). "Current significance of meconium plug syndrome". J. Pediatr. Surg. 43 (5): 896–8. doi:10.1016/j.jpedsurg.2007.12.035. PMC 3086204. PMID 18485962.
↑ Berdon WE, Slovis TL, Campbell JB, Baker DH, Haller JO (1977). "Neonatal small left colon syndrome: its relationship with aganglionosis and meconium plug syndrome". Radiology. 125 (2): 457–62. doi:10.1148/125.2.457. PMID 910057.
↑ Spitz L (2006). "Observations on the origin of congenital intestinal atresia". S. Afr. Med. J. 96 (9 Pt 2): 864. PMID 17077911.
↑ HOLSCLAW DS, ECKSTEIN HB, NIXON HH (1965). "MECONIUM ILEUS. A 20-YEAR REVIEW OF 109 CASES". Am. J. Dis. Child. 109: 101–13. PMID 14237408.

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[pmid2295961-1] "Elementary school performance of children with congenital hypothyroidism. New England Congenital Hypothyroidism Collaborative". J. Pediatr. 116 (1): 27–32. 1990. PMID 2295961.

[pmid18485962-2] Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb GW, Snyder CL (2008). "Current significance of meconium plug syndrome". J. Pediatr. Surg. 43 (5): 896–8. doi:10.1016/j.jpedsurg.2007.12.035. PMC 3086204. PMID 18485962.

[pmid910057-3] Berdon WE, Slovis TL, Campbell JB, Baker DH, Haller JO (1977). "Neonatal small left colon syndrome: its relationship with aganglionosis and meconium plug syndrome". Radiology. 125 (2): 457–62. doi:10.1148/125.2.457. PMID 910057.

[pmid17077911-4] Spitz L (2006). "Observations on the origin of congenital intestinal atresia". S. Afr. Med. J. 96 (9 Pt 2): 864. PMID 17077911.

[pmid14237408-5] HOLSCLAW DS, ECKSTEIN HB, NIXON HH (1965). "MECONIUM ILEUS. A 20-YEAR REVIEW OF 109 CASES". Am. J. Dis. Child. 109: 101–13. PMID 14237408.

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Differentiating Cretinism from other diseases

Overview

Differentiating cretinism from other Diseases

References

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