scholarly journals Hirschsprung’s Disease: A Rare Adult Diagnosis

2020 ◽  
Vol 4 (3) ◽  
pp. 480-481
Author(s):  
Kaitlyn Schmutz ◽  
Gaea McGaig ◽  
B. Jason Theiling

Case Presentation: Approximately 94% of patients with Hirschsprung’s disease (HD) are diagnosed before the age of five. In our case, a young adult with years of constipation presented to the emergency department with significant abdominal distention. He was ultimately diagnosed with HD, which was identified using computed tomography (CT). Discussion: In HD, we find defects in gastric motility due to improper gut colonization. Without childhood recognition, HD often leads to chronic constipation and failure to thrive in adulthood. CT is a key step in identifying this rare adult diagnosis that should be considered in all patients with a history of chronic constipation.

2021 ◽  
Vol 07 (03) ◽  
pp. e124-e126
Author(s):  
Mark Portelli ◽  
Mark Bugeja ◽  
Charles Cini

Abstract Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.


Author(s):  
Anushri Kale ◽  
Aditi Badwaik ◽  
Pallavi Dhulse ◽  
Archana Maurya ◽  
Bibin Kurian

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.


PEDIATRICS ◽  
1956 ◽  
Vol 18 (2) ◽  
pp. 176-176

The child with a typical history of chronic constipation, and with physical signs of a distended abdomen and an empty rectal ampulla, who is found to have a widely dilated colon with a narrow distal segment by the radiologist, presents no diagnostic problem. However, the diagnosis of Hirschsprung's disease may be very difficult to establish if part of the classical diagnostic criteria are absent or inconclusive. In such cases, the authors have found rectal biopsy to be a useful diagnostic procedure. They cite as indications for biopsy: (1) suspected Hirschsprung's disease in the newborn infant, because the colon does not become dilated and hypertrophied until the intestinal tract has been functioning for several months; (2) symptoms of upper large bowel obstruction developing soon after birth, because barium enema studies of infants whose entire colons are aganglionic reveal no obstruction of the lumen of the large intestine; (3) radiologic evidence of dilatation of the entire distal segment of the colon, because, in patients with a short aganglionic lesion, the obstruction may be so low that the radiologist is unable to demonstrate a narrow segment extending through the rectosigmoid, and (4) atypical symptoms of megacolon, including diarrhea, episodes of intestinal obstruction, or other symptoms of colonic dysfunction. This procedure has been performed by Swenson and his colleagues on 40 patients. Biopsy specimens obtained from 19 patients, subsequently proved to have Hirschsprung's disease by study of the resected rectum and sigmoid, contained no ganglionic cells. In the other 21 patients, biopsy was performed because Hirschsprung's disease was suspected. Ganglionic cells were present in all of these specimens, and the success of subsequent conservative management of these patients confirmed the diagnosis of chronic constipation. Control material was obtained from 10 cadavers with normal colons, and ganglionic cells were found in all of these specimens. The authors emphasize that this technique is only as good as the specimen obtained. An adequate biopsy of rectal wall must be removed. Multiple histologic sections must be carefully examined before the diagnosis of Hirschsprung's disease is confirmed.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Resul Nusretoğlu ◽  
Yunus Dönder

Abstract Background Diaphragmatic hernias may occur as either congenital or acquired. The most important cause of acquired diaphragmatic hernias is trauma, and the trauma can be due to blunt or penetrating injury. Diaphragmatic hernia may rarely be seen after thoracoabdominal trauma. Case presentation A 54-year-old Turkish male patient admitted to the emergency department with abdominal pain and dyspnea ongoing for 2 days. He had general abdominal tenderness in all quadrants. He had a history of a stabbing incident in his left subcostal region 3 months ago without any pathological findings in thoracoabdominal computed tomography scan. New thoracoabdominal computed tomography showed a diaphragmatic hernia and fluid in the hernia sac. Due to respiratory distress and general abdominal tenderness, the decision to perform an emergency laparotomy was made. There was a 6 cm defect in the diaphragm. There were also necrotic fluids and stool in the hernia sac in the thorax colon resection, and an anastomosis was performed. The defect in the diaphragm was sutured. The oral regimen was started, and when it was tolerated, the regimen was gradually increased. The patient was discharged on the postoperative 11th day. Conclusions Acquired diaphragmatic hernia may be asymptomatic or may present with complications leading to sepsis. In this report, acquired diaphragmatic hernia and associated colonic perforation of a patient with a history of stab wounds was presented.


2021 ◽  
Vol 4 (Supplement_1) ◽  
pp. 128-129
Author(s):  
A LAGROTTERIA ◽  
A W Collins ◽  
A Someili ◽  
N Narula

Abstract Background Lymphocytic esophagitis is a new and rare clinicopathological entity. It is a histological pattern characterized by lymphocytic infiltrate without granulocytes. Its etiology and clinical significance remains unclear. The clinical manifestations are typically mild, with reflux and dysphagia the most commonly reported symptoms. Aims We describe a case report of spontaneous esophageal perforation associated with lymphocytic esophagitis. Methods Case report Results A previously well 31-year-old male presented to the emergency department with acute food impaction. His antecedent symptoms were acute chest discomfort and continuous odynophagia following his most recent meal, with persistent globus sensation. The patient had no reported history of allergies, atopy, rhinitis, or asthma. A previous history of non-progressive dysphagia was noted after resuscitation. Emergent endoscopy revealed no food bolus, but a deep 6 cm mucosal tear in the upper-mid esophagus extending 24 to 30 cm from the incisors. Chest computed tomography observed small volume pneumoperitoneum consistent with esophageal perforation. The patient’s recovery was uneventful; he was managed conservatively with broad-spectrum antibiotics, proton pump inhibitor therapy, and a soft-textured diet. Endoscopy was repeated 48 hours later and revealed considerable healing with only a residual 3-4cm linear laceration. Histology of biopsies taken from the mid and distal esophagus demonstrated marked infiltration of intraepithelial lymphocytes. There were no eosinophils or neutrophils identified, consistent with a diagnosis of lymphocytic esophagitis. Autoimmune indices including anti-nuclear antibodies and immunoglobulins were normal, ruling out a contributory autoimmune or connective tissue process. The patient was maintained on a proton pump inhibitor (pantoprazole 40 mg once daily) following discharge. Nearly six months following his presentation, the patient had a recurrence of symptoms prompting representation to the emergency department. He described acute onset chest discomfort while eating turkey. Computed tomography of the chest redemonstrated circumferential intramural gas in the distal esophagus and proximal stomach. Conclusions Esophageal perforation is a potentially life-threatening manifestation of what had been considered and described as a relatively benign condition. From isolated dysphagia to transmural perforation, this case significantly expands our current understanding of the clinical spectrum of lymphocytic esophagitis. Funding Agencies None


2020 ◽  
pp. 105-110
Author(s):  
Pat Croskerry

In this case, a 35-year-old male is brought to a community hospital emergency department by ambulance having suffered an apparent seizure in the street. He is well known to the nurses and physician who see him. He has had several visits for seizures, and he has a history of depression. He has had electroencephalography studies and a computed tomography scan of his head in the past and has had assessments by both neurology and psychiatry. While he is in the department, he has an atypical seizure. There is a consensus among the ED staff that his seizures may be factitious. After a period of observation, he is discharged. Approximately 6 months later, the physician hears that the patient has died and tracks down his autopsy report, which had a surprising finding.


2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Eli Bress ◽  
Jason E. Cohn

Abstract Case presentation This is a brief report of a 57-year-old Caucasian female presented with a 4-day history of worsening left ear pain. Her symptoms began with left otalgia and otorrhea which progressed to helical erythema, prompting a visit to the emergency department. She was noted to have erythema of the left auricle and swelling of the left auditory meatus. Our otolaryngology service observed erythema of the auricle with sparing of the lobule. Diagnosis The diagnosis to be otitis externa with perichondritis was established, and we recommended otic ciprofloxacin-hydrocortisone, IV vancomycin, and ciprofloxacin. The patient had marked improvement and was discharged on an oral and otic fluoroquinolone. In this case, the diagnosis of perichondritis was made by a classic physical examination finding: erythema and edema with sparing of the fatty lobule. This key finding helps to distinguish perichondritis from otitis externa.


2012 ◽  
Vol 2 (1) ◽  
pp. 2
Author(s):  
Steven Durning ◽  
David J. Shaw ◽  
Anthony J. Oliva ◽  
Michael J. Morris

An 81-year-old male with a history of symptomatic bradycardia controlled by a pacemaker presented to our institution with three days of persistent hiccups. He denied any pulmonary symptoms and his initial evaluation showed no evidence of tachypnea, tachycardia, or hypoxia. Pacemaker malfunction or migration of the pacer leads was ruled out as an etiology and no intracranial pathology was present. Admission chest radiograph was normal but a computed tomography of the chest demonstrated a left lower lobe pulmonary embolus. After treatment with anticoagulation was initiated, the hiccups resolved within the next week. This is a unique case presentation of hiccups as the only presenting symptom of an otherwise asymptomatic pulmonary embolism.


Open Medicine ◽  
2011 ◽  
Vol 6 (6) ◽  
pp. 770-772 ◽  
Author(s):  
Jose Ramia-Angel ◽  
Eloy Sancho ◽  
Rafael Lozoya ◽  
Andrej Gasz ◽  
Jose Santos

AbstractA 62-year-old man presented to the Emergency Department with a 2-day history of right testicular pain. The initial diagnosis was orchiepididymitis (later found to be mistaken), and intravenous antibiotic treatment was started. Twenty-four hours later, the patient had mild pain in the right inguinal area and right infra-abdominal area. We performed an inguinal ultrasound that showed an incarcerated mass of mixed echogenicity in the right inguinal area. Surgery was performed because we thought the patient had an inguinal incarcerated hernia. Two days after the surgical procedure, the patient began to have fever and erythema and pain in the back. Abdominal computed tomography (CT) showed an acute pancreatitis with a peripancreatic collection from the pancreas to right inguinal area. We have reviewed similar cases in the literature and note that, infrequently, an inguinal mass can be the first sign of mostly asymptomatic acute pancreatitis.


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