scholarly journals A rare association of ileal atresia and total colonic Hirschsprung's disease

Author(s):  
Aida Daib ◽  
Maha Lindolsi ◽  
Youssef Hellal ◽  
Malek Boughdir ◽  
Rabiaa Ben Abdallah ◽  
...  
1995 ◽  
Vol 5 (03) ◽  
pp. 187-189 ◽  
Author(s):  
D. Poenaru ◽  
J. Uroz-Tristán ◽  
Suzanne Leclerc ◽  
S. Murphy ◽  
A. Bensoussan

1986 ◽  
Vol 16 (3) ◽  
pp. 250-251 ◽  
Author(s):  
O. Tamburrini ◽  
A. Bartolomeo-De Iuri ◽  
P. Palescandolo ◽  
A. Marte ◽  
G. Amici

2019 ◽  
Vol 08 (03) ◽  
pp. 142-146
Author(s):  
Trassanee Chatmethakul ◽  
Rozaleen Phaltas ◽  
Gwen Minzes ◽  
Jose Martinez ◽  
Ramachandra Bhat

AbstractWe report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.


2019 ◽  
Vol 12 (2) ◽  
pp. e226675 ◽  
Author(s):  
Liliana Pimenta Santos ◽  
Diana Coimbra ◽  
Catarina Cunha ◽  
Maria Francelina Lopes

Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung’s disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung’s disease in this clinical setting. To our knowledge, the association of oesophageal atresia/tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease has not been previously reported.


2009 ◽  
Vol 12 (5) ◽  
pp. 394-397 ◽  
Author(s):  
Jean-Pierre de Chadarévian ◽  
Shondell M. Bouie ◽  
Marie E. Peddinghaus ◽  
Lori R. Luck ◽  
Marshall Z. Schwartz ◽  
...  

Inherited thrombophilia, a predisposition for a hypercoagulable state, has been associated with cases of intestinal atresia. In this communication, we report a case of terminal ileal atresia and total colonic aganglionosis (Hirschsprung's disease), a rarely documented association, in a neonate who seemed to have a hypercoagulable state. The case stresses the need for recognition of this sequence of events in order to achieve optimal management.


2007 ◽  
Vol 167 (4) ◽  
pp. 475-477 ◽  
Author(s):  
Hamit Ozyurek ◽  
Ozlem Eroglu Kayacik ◽  
Olcay Gungor ◽  
Filiz Karagoz

2020 ◽  
Vol 13 (4) ◽  
pp. e235121 ◽  
Author(s):  
Nikhil Shah ◽  
Anuradha Khadilkar ◽  
Vaman Khadilkar ◽  
Sagar Lad

Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung’s disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung’s disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.


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