Korean J Obstet Gynecol.  2012 Jun;55(6):398-402. 10.5468/KJOG.2012.55.6.398.

Antenatal sonographic features of intestinal neuronal dysplasia type A associated with polydactyly and micromelia

• Son HJ
• Jo YS
• Jung JH
• Jang DG
• Lee G

• KMID: 1783932
• DOI: http://doi.org/10.5468/KJOG.2012.55.6.398

Abstract

Type A intestinal neuronal dysplasia is a congenital abnormality that is a very rare disease. Here, we report on a patient who had intestinal dilatation with serial changes and polydactyly, as shown on prenatal ultrasound. Bowel obstruction symptoms were shown at 16 days of life. An open abdominal surgery was performed. Malrotation of the bowel and narrowing of the area from 15 cm above the ileocecal valve were noted. Therefore, a right hemicolectomy, including lesions was performed. The patient was diagnosed with type A intestinal neuronal dysplasia by pathology.

Keyword

Intestinal neuronal dysplasia; Polydactyly; Micromelia; Ultrasonography

MeSH Terms

Congenital Abnormalities
Dilatation
Humans
Ileocecal Valve
Neurons
Polydactyly
Rare Diseases

Figure

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  Fig. 1 (A, B) Dilated multiple bowel loops (approximately 1.72 cm) at 32 weeks gestation. (C) Shortened and multiple bowel loops detected at 34 weeks gestation. (D) Normal sized bowel lumen at 36 weeks gestation.

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  Fig. 2 Micromelia of long bone shortening.

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  Fig. 3 (A) The mucosa showed a ruptured crypt with acute and chronic inflammation-arrow (H&E, ×40). (B) The colonic wall showed hypertrophic and tortuous myenteric plexus-arrow (H&E, ×100). (C) Immunohistochemistry for S-100 protein showed strong positivity for hypertrophic nerve bundles-arrow (×100).

Reference

1. Meier-Ruge W. Casuistic of colon disorder with symptoms of Hirschsprung's disease (author's transl). Verh Dtsch Ges Pathol. 1971. 55:506–510.

2. Fadda B, Maier WA, Meier-Ruge W, Schärli A, Daum R. Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Z Kinderchir. 1983. 38:305–311.

3. Martucciello G, Caffarena PE, Lerone M, Mattioli G, Barabino A, Bisio G, et al. Neuronal intestinal dysplasia: clinical experience in Italian patients. Eur J Pediatr Surg. 1994. 4:287–292.

4. Meier-Ruge W. Epidemiology of congenital innervation defects of the distal colon. Virchows Arch A Pathol Anat Histopathol. 1992. 420:171–177.

5. Kobayashi H, Hirakawa H, Surana R, O'Briain DS, Puri P. Intestinal neuronal dysplasia is a possible cause of persistent bowel symptoms after pull-through operation for Hirschsprung's disease. J Pediatr Surg. 1995. 30:253–257.

6. Montedonico S, Acevedo S, Fadda B. Clinical aspects of intestinal neuronal dysplasia. J Pediatr Surg. 2002. 37:1772–1774.

7. Schärli AF, Meier-Ruge W. Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung's disease. J Pediatr Surg. 1981. 16:164–170.

8. Rajalakshmi T, Makhija P, Babu MK, Kini U. Intestinal neuronal dysplasia type A. Indian J Pediatr. 2003. 70:839–841.

9. Corduk N, Koltuksuz U, Bir F, Karabul M, Herek O, Sarioglu-Buke A. Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. Adv Ther. 2007. 24:1254–1259.

10. Briner J, Oswald HW, Hirsig J, Lehner M. Neuronal intestinal dysplasia: clinical and histochemical findings and its association with Hirschsprung's disease. Z Kinderchir. 1986. 41:282–286.

11. Puri P. Variant Hirschsprung's disease? J Pediatr Surg. 1997. 32:149–157.

12. Schofield DE, Yunis EJ. What is intestinal neuronal dysplasia. Pathol Annu. 1992. 27:249–262.

13. Reyes HM, Meller JL, Loeff D. Neonatal intestinal obstruction. Clin Perinatol. 1989. 16:85–96.