Hirschsprung’s Disease: Diagnosis and Management

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

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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.

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Evaluation of diagnostic factors used to refer children with constipation for rectal biopsies

International Journal of Colorectal Disease ◽

10.1007/s00384-021-04069-4 ◽

2021 ◽

Author(s):

Emilie G. Jaroy ◽

Ragnhild Emblem ◽

Henrik M. Reims ◽

The Tien Mai ◽

Gabriel T. Risa ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Failure To Thrive ◽

Invasive Procedure ◽

Rectal Biopsy ◽

Functional Constipation ◽

Disease Diagnosis ◽

Abdominal Distention ◽

Tertiary Referral Hospital ◽

Male Sex

Abstract Purpose Children with constipation and suspected Hirschsprung’s disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of “unnecessary” biopsies. Methods We reviewed all constipated children who underwent a rectal biopsy to diagnose a possible Hirschsprung’s disease at a tertiary referral hospital over a 6-year period (2013–2018). We registered clinical and demographic factors in these children and conducted correlation and multivariate regression analysis to evaluate the relation between these factors and a diagnosis of Hirschsprung’s disease. Results We identified 225 children, aged 0–17 years. In total, Hirschsprung’s disease was diagnosed in only 49/225 (22%). Among the 49 children with Hirschsprung’s disease, 29 (59%) were diagnosed in the neonatal period. Among girls, HD was confirmed in only 10/101 (10%) children, and only 1 of these 10 girls was older than 6 months at the time of the biopsy. The following factors correlated significantly with Hirschsprung’s disease diagnosis in children older than 1 month: “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Conclusion In children referred for rectal biopsy, the factors most indicative of Hirschsprung’s disease were “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Notably, the prevalence of Hirschsprung’s disease decreased with the increasing age of the children. Girls referred for a biopsy rarely had Hirschsprung’s disease, especially those older than 1 month.

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

BMJ Case Reports ◽

10.1136/bcr-2020-235121 ◽

2020 ◽

Vol 13 (4) ◽

pp. e235121 ◽

Cited By ~ 1

Author(s):

Nikhil Shah ◽

Anuradha Khadilkar ◽

Vaman Khadilkar ◽

Sagar Lad

Keyword(s):

High Glucose ◽

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Rectal Biopsy ◽

Abdominal Distension ◽

Intravenous Fluids ◽

Congenital Hyperinsulinism ◽

Rare Association ◽

Hirschprung's Disease ◽

Hyperinsulinemic Hypoglycaemia

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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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

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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

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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

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Our experience of clinico-pathological study of thyroid swelling

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20183396 ◽

2018 ◽

Vol 4 (5) ◽

pp. 1156

Author(s):

Vilas R. Kirdak ◽

Sambhaji G. Chintale ◽

Sonali P. Jatale ◽

Kaleem A. Shaikh

Keyword(s):

Cost Effective ◽

Safe Procedure ◽

Chi Square ◽

Radiological Investigation ◽

Statistical Tool ◽

Fourth Decade ◽

Chi Square Test ◽

The Common ◽

Thyroid Swelling ◽

High Index Of Suspicion

Background: Diseases of thyroid gland are extremely common. Majority of palpable thyroid swellings are asymptomatic occurs in 5% of the population. The main objective of present study is to know the accuracy of FNAC in preoperative diagnosis of clinically palpable thyroid swelling and evaluate the efficiency of FNAC, USG, and TFT in differentiating between benign and malignant thyroid swelling and their confirmation by histopathological reports after operation.Methods: This prospective study is carried out in 120 cases of thyroid swelling attending to the ENT opd at our hospital. Pearson chi square test used as statistical tool to analyse the data. All patients informed written consent taken. The patients are subjected to detailed history with thorough clinical examination, pathological and radiological investigation. FNAC, USG and TFT were done in each case. The result of FNAC was interpreted. Results: The present study includes 120 cases. All patient examined clinically, pathologically and radiological. The common age group of presentation of thyroid swelling is between second to fourth decade. Youngest patient is of 15 yrs. old and oldest is being 68 yrs of age. All 120 cases were evaluated preoperatively and provisional diagnosis was made on the basis of FNAC, TFT and USG. 111 Cases were operated out of total 120 cases. So, the overall accuracy of FNAC in comparisons to HPR is 99.15% with no false positive reports.Conclusions: The overall incidence of the malignancy in thyroid swelling varies from 10% to 30% according to various studies, in our study the overall incidence of malignancy in thyroid swelling was 5.8%. High index of suspicion should be kept in mind during physical examination for detection of malignancy. FNAC should be done in all cases preoperatively FNAC is safe procedure and cost effective.

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