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Case Reports
. 2018 Nov 3;14(2):171-174.
doi: 10.1016/j.radcr.2018.10.007. eCollection 2019 Feb.

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease

Gayathri Sreedher  1 , Aaron Garrison  2 , Robert Novak  3 , Matthew Keisling  3 , Shankar Srinivas Ganapathy  1
Affiliations
Case Reports

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease

Gayathri Sreedher et al. Radiol Case Rep. .

Abstract

Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.

Keywords: Enteric neuropathy; Hirschsprung's disease; Intestinal hypoganglionosis.

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Figures

Fig. 1
Fig. 1
Diffuse bowel distention at day 4 of life associated with bilious vomiting. NG tube is in the stomach.
Fig. 2
Fig. 2
(a) Normal UGI exam with retroperitoneal duodenum, (b) narrowed rectum and sigmoid colon with a saw tooth sigmoid mucosa, (c) postevacuation film with narrow rectum, sigmoid and distal descending colon and more proximal dilated colon.
Fig. 3
Fig. 3
Necrotizing enterocolitis with pneumatosis intestinalis developed on day 12 of life.
Fig. 4
Fig. 4
Repeat contrast enema at 4 week of life demonstrates distal descending, sigmoid colonic and rectal narrowing and saw tooth mucosal pattern with dilatation of the ascending, transverse and proximal descending colon.
Fig. 5
Fig. 5
Histopathologic findings in resected sigmoid. (a) Upper left. Myenteric plexus with no ganglion cells and no abnormal nerves (H&E; 100x magnification). (b) Upper right, Calretinin stain showing normal nerve twigs in lamina propria inconsistent with anganglionosis (Calretinin; 400x magnification). (c) Lower left-arrow showing abnormal intermyenteric ganglion with single ganglion cell and little neutrophil (H&E; 100x magnification). (d) Lower right-arrow shows rare normal cluster of ganglion cells present (H&E; 200x magnification).
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