Rare association of Beckwith-Wiedemann syndrome with Hirschsprung’s disease in an infant with hypoglycemia

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.

Download Full-text

Hirschsprung’s Disease: Diagnosis and Management

Journal of Enam Medical College ◽

10.3329/jemc.v10i2.53536 ◽

2021 ◽

Vol 10 (2) ◽

pp. 104-113

Author(s):

Md Benzamin ◽

Md Rukunuzzaman ◽

Md Wahiduzzaman Mazumder ◽

ASM Bazlul Karim

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy ◽

Disease Diagnosis ◽

Radiological Investigation ◽

Functional Intestinal Obstruction ◽

The Common ◽

High Index Of Suspicion ◽

Hirschprung's Disease ◽

Related Mortality

Hirschsprung’s disease (HD) is a rare genetic congenital defect of intestine causing failure of migration of parasympathetic ganglionic cells in some definite part of intestine, resulting in functional intestinal obstruction. It commonly involves rectosigmoid region of colon but other parts of colon or total colon, even small intestine may be affected. Incidence is 1/5000 live births. It is one of the common pediatric surgical problems and 2nd most organic cause of constipation. Symptoms may be evident from 1st day of life. About 90% infants with Hirschprung’s disease fail to pass meconium in 1st 24 hours of life. About 80% HD cases are diagnosed in early few months of life and present with abdominal distention, constipation, poor feeding, vomiting etc. HD enterocolitis is a devastating condition related to mortality. HD may be associated with some congenital anomalies and syndrome. High index of suspicion is the main key to diagnosis. Radiological investigation supports the diagnosis and rectal biopsy for histopathology is confirmatory. Although it is a surgical problem, physician can play a key role in early diagnosis and thus help to prevent HD enterocolitis-related mortality and restore near-normal life. J Enam Med Col 2020; 10(2): 104-113

Download Full-text

A Case Report on 2 years Child: Hirschprung’s Disease

Journal of Pharmaceutical Research International ◽

10.9734/jpri/2021/v33i60a34519 ◽

2021 ◽

pp. 558-564

Author(s):

Anushri Kale ◽

Aditi Badwaik ◽

Pallavi Dhulse ◽

Archana Maurya ◽

Bibin Kurian

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Ganglion Cells ◽

Past History ◽

Rectal Biopsy ◽

Case Presentation ◽

Surgical History ◽

History Of ◽

Pull Through ◽

Hirschprung's Disease

Introduction: Hirschsprung's disease is the most common cause of large intestinal obstructing in neonates. Hirschsprung's disease is a congenital anomaly caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel .The defect begins in the internal and sphincter and extends proximally for a variable length of gut. Hirschprung's disease is a disorder of the gut caused due to congenital absence of ganglion cells in the sub-mucosal and myenteric plexus of intestine. This disease is also known as megacolon or congenital Aganglionic megacolon. Case presentation: A 2 years old male child, known case of Hirschprung’s disease, was brought to AVBRH for further management. As narrated by the mother, the child was not passing stool since birth. There was no history of abdominal distention, vomiting or fever. The child pass the stool with the help of enema which was given to the child in the morning and evening. Mast. Devansh has past history of NICU stay. In View of not passing stools, USG of abdomen and pelvis done. Endorectal pull through surgery was done on 4/02/2021 under general anesthesia. No any past surgical history. There is a past history of rectal biopsy done in 1 1/2 month of age. Conclusion:The patient was admitted in AVBRH for further management. Then the report mainly focused on surgical management and quality nursing care due to which patient was discharged without any further complication and satisfaction.

Download Full-text

Colonic stenosis in neonates is not always congenital or complication of necrotizing enterocolitis

Journal of Neonatal Surgery ◽

10.47338/jns.v9.524 ◽

2020 ◽

Vol 9 ◽

pp. 7

Author(s):

Vijai Datta Upadhyaya ◽

Ashwani Mishra ◽

Yusuf Md ◽

Basant Kumar

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Bowel Perforation ◽

Failure To Thrive ◽

Rectal Biopsy ◽

Abdominal Distension ◽

Early Infancy ◽

Bowel Loop ◽

Colonic Stenosis ◽

Operative Findings

Background: Bowel obstruction in early infancy may results from variety of congenital anomalies involving small and large bowel. Colonic stenosis (CS) congenital or acquired is among the rare causes of chronic bowel obstructions in early infancy. Methods: Medical record of 4 patients with colonic stenosis secondary to Hirschsprung’s disease was reviewed. Results: A total of 4 cases were included in the study. Age of presentation ranged from 25 days to 96 days. Most common presentation was gross abdominal distension with visible bowel loop, vomiting, difficulty in passing stool followed by history of passing recurrent loose stools and failure to thrive. In one case there was suspicion of bowel perforation and was operated in emergency. Initial operative findings and histopathology was not suggestive of Hirschsprung’s Disease, but a full thickness rectal biopsy confirmed HD in all 4 cases. Conclusion: Hirschsprung should be considered as underlying pathology in cases of colonic stricture/stenosis in children.

Download Full-text

Rectal Biopsy for Hirschsprung's Disease – Are We Performing too Many?

European Journal of Pediatric Surgery ◽

10.1055/s-0029-1241820 ◽

2010 ◽

Vol 20 (02) ◽

pp. 95-97 ◽

Cited By ~ 15

Author(s):

N. Rahman ◽

J. Chouhan ◽

S. Gould ◽

Vt. Joseph ◽

H. Grant ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy

Download Full-text

RECTAL BIOPSY IN HIRSCHSPRUNG'S DISEASE

The Lancet ◽

10.1016/s0140-6736(59)90909-2 ◽

1959 ◽

Vol 273 (7085) ◽

pp. 1236

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy

Download Full-text

Diagnosing Hirschsprung's disease: Increasing the odds of a positive rectal biopsy result

Journal of Pediatric Surgery ◽

10.1053/jpsu.2003.50070 ◽

2003 ◽

Vol 38 (3) ◽

pp. 412-416 ◽

Cited By ~ 47

Author(s):

Nicola A. Lewis ◽

Marc A. Levitt ◽

Garret S. Zallen ◽

Mona S. Zafar ◽

Karen L. Iacono ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy ◽

Biopsy Result

Download Full-text

HIRSCHSPRUNG’S DISEASE

The Professional Medical Journal ◽

10.29309/tpmj/2010.17.02.2349 ◽

2010 ◽

Vol 17 (02) ◽

pp. 223-231

Author(s):

MUHAMMAD ZAFAR IQBAL ◽

Hammad Azam ◽

MUHAMMAD JAHANGIR ◽

Muhammad Tahir ◽

MUHAMMAD ANWAR ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Case Series ◽

Abdominal Distension ◽

Functional Results ◽

International Studies ◽

Stool Incontinence ◽

Case Series Study ◽

Duhamel Procedure ◽

One Year

Introduction: Hirschsprung’s Disease is one of the most common congenital anomalies that Pediatric Surgeons manage. In spite of the various modifications of pull through procedures available, the long term functional results are less than ideal. However, Modified Duhamel Procedure is one which has relatively good functional results and that is the reason we have selected this procedure for Hirschsprung’s disease in Sheikh Zayed Hospital, Rahim Yar Khan. Objectives: To evaluate the outcome of patients after Modified Duhamel Procedure for Hirschsprung’s Disease. Design: This is case series study. Settings: Department of Pediatric Surgery Sheikh Zayed Medical College/ Hospital Rahim Yar Khan. Period: Seventeen cases were studied over a period of two year i.e. from November 2006 to December, 2008. Material and Method: Seventeen (17) cases from both sexes were operated for Hirschsprung’s Disease over a period of one year and Modified Duhamel Procedure was adopted for all these cases. All patients were diagnosed cases of rectosigmoidal aganglionosis and follow up was done over a period of one year according to a comprehensive Proforma. Four parameters like normal stool evacuation, abdominal distension, soiling and stool incontinence were followed and then the results were compared with other national and international studies. Results: Fever 19.4% (n=04), wound infection 19.4% (n=04), vomiting 9.52% (n=02), abdominal distension 4.76% (n=01), and bleeding per rectum 4.76% (n=01), were the immediate post operative complications. Fourteen patients (82.35%), used to pass stool once daily. Abdominal distension was observed occasionally in six patients (28.57%). Soiling was seen in five patients (29.41%). Out of Seventeen, stool incontinence was seen in only three patients (17.64%). Conclusion: Modified Duhamel Procedure with the help of linear cutter stapler device is quite safe, easy and less time consuming. Infact Modified Duhamel is a procedure of choice for Hirschsprung’s Disease.

Download Full-text