A Case Report on 2 years Child: 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.

Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease

ABSTRACT Hirschprung’s disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung’s. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors.

A case report on long segment hirschprung’s disease

Hirschsprung disease is a complex congenital condition of the intestine, usually recognized to be genetic origin and reverberates from a disturbance of the normal development of the enteric nervous system. It is evident to be the most common cause of a low intestinal obstruction in the neonates as well as the older children. Study reveals that occurrence rate of cases in 70% may be associated with other congenital abnormalities together with number of syndromic phenotypes. A number of distinct genetic sites have been identified in these syndromic phenotypes, identifying potential genetic predispositions. Presenting hereby a case of neonatal hirschsprung’s disease whereby the patient was surgically corrected along with stepwise pharmacological therapy and was able to get discharged with regular follow up advice.

A New Approach for Pelvic Tumors Invading the Rectum

Objective: Sometimes pelvic tumors invade the rectal wall, needing removal Design: An alternative technique of radical/conservative surgery (trying to preserve as much as possible the muscular complex) is presented, inspired by De La Torre treatment of Hirschprung’s disease. The lower rectum is only partially resected on the non-involved side, where only mucosa is removed, followed by a lower end to end rectal anastomosis Results: Normal defecation Conclusion: A good surgical alternative

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

Paediatrician’s Suspicion and Radiologist’s Precision in Diagnosing Hirschprung’s Disease in a Child: Case Report

Hirschprung’s disease (HD) is also called as aganglionic megacolon. The entity falls in the group of congenital motor disorders. The usual presentation is in the form of not passing of meconium, abdominal distension with or without vomiting. We present a 2-years old child who was brought with complaints of constipation and difficulty in passing stool. The child was evaluated radiologically by plain radiography, ultrasonography (USG) and barium enema and was diagnosed as a case of short segment type of Hirschsprung disease. The parents had been counselled and advised for pull-through surgery for the child. It is a dilemma for the paediatrician to confirm the diagnosis of Hirschprung’s disease until a radiologically confirmed diagnosis is made. Many cases are delayed for the treatment because of non-diagnosis or delayed diagnosis. The importance lies in the early diagnosis for further surgical management.

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.

Peran pemeriksaan radiologis: barium enema pada penyakit hirschprung

Hirschprung's Disease (HD) is an aganglionic disease segment of the parasympathetic nerves of Meissner and Auerbach. HD occurs in 1 in 5000 live births. Symptoms include late meconium, green vomiting, and abdominal distension. There are two types of HD short segments and long segments. This transitional zone is usually found in the rectosigmoid region or sigmoid colon, colon descendants, rectum, other colon and can occur in the small intestine. A medium according to type, 75 percent type of long segment, and 15% type of short segment. In the diagnosis, radiological imaging of the barium enema is needed with the position of Anteroposterior-Supine, Semi-Erect, Left Lateral Decubitus. There are seven typical images found (1) Transitional zones, (2) aganglionic segments, (3) Thickening of the mucosal portion of the proximal zone of the zone, (4) Slowing down of barium evacuation, (5) Comparison of rectosigmoid caliber less than 1, (6) Spasms aganglionic area, (7) Image of cobblestone mucosa. Immunohistochemical examination by suction biopsy through taking three places, namely two, three, and five centimeters (cm) from the anal verge.