Adult Hirschsprung’s disease: A case report and literature review

Introduction & importanceAdult Hirschsprung’s disease (AHD) is a difficult diagnosis to make due to its rarity, frequently after emergency interventions have been conducted. We present a case of possible AHD and sketch a classic presentation of Adult Hirschsprung’s Disease. This would help recognize and include AHD in the differential diagnoses of chronic constipation where appropriate.Case presentationThe case involved a 41-year-old male with a history of multiple abdominal surgeries for volvuli and a ventral hernia repair complicated by post-operative SBO. Presenting symptoms were chronic constipation, abdominal colic, and dilation. SBO secondary to volvulus was discovered, decompressed, and emptied of 3000cc fecal material in the OR. His case was again complicated twice by SBO which led to the suspicion of AHD and instigated this systematic review. Papers were extracted from the EBSCO and PubMed databases. Papers were excluded if patients were younger than 10 years old.Clinical discussionThe classic patient will be a male over the age of 10 years old with an average age of 30 years old and a long history of chronic constipation, often complicated by an acute symptomatic obstruction. Patients may have had a history of multiple surgical or non-surgical interventions to relieve their constipation.ConclusionAHD is being seen more frequently with the increasing availability of healthcare in underserved areas of the world. Duhamel’s procedure is the most effective procedure after diagnosis has been made. Barium enema and a biopsy show hypo- or a-ganglionic segments that are to be resected for curative purposes.     

Case report of a skip segment Hirschsprung’s disease: A real phenomenon

Introduction and importanceHirschsprung’s disease is a congenital anomaly that results from an incomplete craniocaudal migration and maturation of intestinal ganglion progenitor cells leading to distal intestinal aganglionosis. Skip segment Hirschsprung’s disease is an extremely rare phenomenon. We report a case involving only the small bowel with confirmed colonic ganglionosis.Case presentationA case report of a 14-month-old with a skipped segment involving the distal 50 cm of the small bowel associated with colonic ganglionosis is presented. A current review of the literature is discussed.Clinical discussionOur patient had persistent obstructive symptoms despite undergoing a technically good, ganglionic pull-through operation at an outside institution. A laparoscopic-assisted pull-through might have documented a small bowel wall diameter discrepancy.ConclusionAlthough rare, skip segment Hirschsprung’s disease is a real phenomenon that paediatric surgeons should be aware of and could involve small and large bowels.     

Retroperitoneal unicentric Castleman’s disease: A case report

IntroductionCastleman’s disease (CD) is an angio-follicular lymph node hyperplasia presenting as a localized or a systemic disease masquerading malignancy. The most common sites of CD are mediastinum, neck, axilla and pelvis. Unicentric CD in the peripancreatic region is very rare.Presentation of caseWe report a case of the 34-year-old lady presenting with epigastric pain for 3 months. Abdominal imaging revealed a retroperitoneal mass arising from the pancreas suspected to be neuroendocrine tumor. Tumor markers were not elevated. Complete surgical excision was performed and patient had uneventful recovery. Pathologic findings demonstrated localized hyaline-vascular type of Castleman’s disease.DiscussionCD is a very rare cause for development of retroperitoneal mass. It is more frequent in young adults without predilection of sex. It can occur anywhere along the lymphoid chain. Abdominal and retroperitoneal locations usually present with symptoms due to the mass effect on adjacent organs. CD appears as a homogeneously hypoechoic mass on ultrasound and non-specific enhancing homogeneous mass with micro calcifications on computed tomography. Histologically, the hyaline vascular type demonstrates a follicular and inter-follicular capillary proliferation with peri-vascular hyalinization, with expansion of the mantle zones by a mixed inflammatory infiltrate of numerous small lymphocytes and plasma cells. The standard therapy of localized form is en bloc surgical excision as performed in our case.ConclusionUnicentric CD in the peripancreatic region is difficult to differentiate from pancreatic neoplasm preoperatively. However, preoperative biopsy in cases of high clinical suspicion can help in avoiding extensive surgery for this benign disease.     

Pylephlebitis and Crohn’s disease: A rare case of septic shock

IntroductionTroncular pylephlebitis, defined as septic thrombophlebitis of the portal vein, is usually secondary to suppurative infection from the regions drained by the portal system. Therefore, pylephlebitis can occur from the portal vein main tributaries. The occurrence of mesenteric pylephlebitis in Crohn’s disease is extremely rare.Presentation of caseWe describe a case of septic shock due to mesenteric pylephlebitis in a 47 years old male affected with Crohn’s disease. The patient was admitted to the emergency department after he had been complained from 3 h of a peri-umbilical abdominal pain associated to fever and shivering quickly followed by a severe hypotension. His medical history included histologically confirmed ileal Crohn’s disease diagnosed 4 years before and treated with mesalamine only. Computed tomography scan confirmed the mesenteric pylephlebitis diagnosis. After medical therapy with antibiotics and systemic nutrition, the patient was successfully operated to treat his ileal Crohn’s disease.DiscussionIn our case, the quick onset of a septic shock was not due to a peritonitis complicating a Crohn’s disease, but to a rare condition not needing an urgent surgical resolution. This report shows that, even in Crohn’s disease, once diagnosis is performed, antibiotic therapy associated to enteral and parenteral nutrition can lead to a complete clinical remission of mesenteric pylephlebitis, mandatory to perform an elective surgery.ConclusionThis case highlights the importance of promptly considerate and treat mesenteric pylephlebitis in presence of a septic shock in a Crohn’s disease patient who is not showing clinical signs of peritonitis.     

Enterovesical fistula,a rare complication of Meckel’s diverticulum: A case report

IntroductionEnterovesical fistulas usually result from diverticulitis, Crohn's disease, or colorectal cancer. A perforated Meckel's diverticulum can exceptionally result in an vesico-diverticulum fistula, as noted in only seven previously reported cases.Case reportA 35-year old Arabic male, quadriplegic,who presented epigastralgia evolving for a week, associated with abdominal distension and cloudy urine. On examination he was feverish (38.5 °C), dehydrated with tenderness in the entire distended abdomen; rectal examination revealed a hypotonic sphincter with no other abnormality. After investigations, acute peritonitis diagnosis was retained. Exploratory laparotomy revealed a vesico-diverticular fistula resulting from a performed Meckel’s diverticulum. Diverticulectomy, ileostomy and bladder sutures were performed after peritoneal cleansing. The postoperative course was uneventful. The anatomo-pathological examination confirmed the diagnosis of a perforated Meckel’s diverticulum that did not contain ectopic gastric or pancreatic tissue.ConclusionVesico-diverticular fistula resulting from a perforated Meckel's diverticulum is a rare complication. To our knowledge, this is only the fourth reported case which is not associated to inflammatory bowel disease.     

Questioning the failure of neural crest cell migration theory in Hirschsprung’s disease: A case report and literature review

IntroductionSegmental aganglionosis (the absence of ganglions) is a rare presentation of Hirschsprung’s disease, whereby only limited segment/segments of aganglionic bowel is interposed between segments of innervated bowel, or “skip’’ area of normal innervations is present within an area of aganglionosis.Presentation of caseWe reported a case of a 3 day old male newborn who presented with failure to pass meconium along with progressive abdominal distension. There were skip lesions present in between. Mikulicz double barrel enterostomy was carried out, which was followed by an uneventful postoperative period. Four months later, the patient was admitted for levelling biopsies which revealed the absence of ganglions in the terminal ileum as well as in the rectosigmoid junction. But the ganglions were present in between and proximal to the terminal ileum where the previously dilated small bowel segment was resected. This presentation was contradicted the most accepted migration theory of Hirschsprung’s disease.DiscussionAs seen in our case, and in21 other cases published between 1954–2016, we highly recommend that leveling/mapping biopsies should definitely include the cecal pole and the small bowel segments proximal to the ileocecal valve as well as the multilevel colonic biopsies down till the rectum.ConclusionReporting of these cases brings out interesting questions with respect to the pathogenesis and serves to highlight the existence of several variants within the spectrum of Hirschsprung’s disease.     

Persistent bowel dysfunction after surgery for Hirschsprung’s disease: A neuropathological perspective

Hirschsprung’s disease (HD) is a congenital disorder, characterized by aganglionosis in the distal part of the gastrointestinal tract. Despite complete surgical resection of the aganglionic segment, both constipation and fecal incontinence persist in a considerable number of patients with limited treatment options. There is growing evidence for structural abnormalities in the ganglionic bowel proximal to the aganglionosis in both humans and animals with HD, which may play a role in persistent bowel dysfunction. These abnormalities include: (1) Histopathological abnormalities of enteric neural cells; (2) Imbalanced expression of neurotransmitters and neuroproteins; (3) Abnormal expression of enteric pacemaker cells; (4) Abnormalities of smooth muscle cells; and (5) Abnormalities within the extracellular matrix. Hence, a better understanding of these previously unrecognized neuropathological abnormalities may improve follow-up and treatment in patients with HD suffering from persistent bowel dysfunction following surgical correction. In the long term, further combination of clinical and neuropathological data will hopefully enable a translational step towards more individual treatment for HD.     

Gossypiboma-an unusual cause of surgical abdomen and surgeon’s nightmare: A rare case report

IntroductionThe term Gossypiboma is used to describe a retained surgical sponge in body after surgical procedure. It is an infrequent but serious surgical complication which is seldom reported because of the medicolegal implications. It can present within days as a surgical emergency or years after the operation.Case presentationWe report a case of 30-year-old female who presented in emergency with acute pain abdomen and severe distention of abdomen. She had history of caesarean section 15 days ago at another hospital. On clinical examination and investigation, it appeared like a surgical abdomen. Contrast enhanced computed tomography suspected an intrabdominal Gossypiboma. On exploratory laparotomy there was a lump in left side of abdominal cavity. Retained surgical sponge was removed that confirmed the diagnosis of Gossypiboma.DiscussionGossypiboma is a real, serious but preventable surgical complication. It affects the patient safety, cost of treatment and may cause mortality if there is delay in diagnosis and treatment. It is commonly seen in emergency and difficult surgeries. Its clinical presentation is extremely variable. It can cause acute surgical abdomen, that needs urgent surgical intervention.ConclusionMeticulous counts of surgical items with careful inspection of surgical site can lessen these complications. Radio frequency chip identification verification by barcode scanner can reduce the error rate.     

A rare involvement of Romberg’s disease: frontal region

Progressive hemifacial atrophy is characterized by slow progressive atrophy of the subcutaneous tissue. Although, in the majority of sufferers, half of the face and the chin are the most severely-affected areas, we present the case of a patient with a 2-year history of local atrophy in the forehead, a very rare involvement. Reconstruction was done using bilateral subcutaneous flaps. There was no recurrence of the atrophy at the 12th-month postoperative check.     

A rare case of Graves’ disease during regular hemodialysis

We report a case of Graves disease in a patient on regular hemodialysis. The patient also suffered from Wolff-Parkinson-White (WPW) syndrome and paroxysmal atrial fibrillation, which may both have been manifestations of the Graves disease because of the increased oxygen demand. To our knowledge, this is the first case to illustrate the usefulness of the antithyroid agent propylthiouracil for Graves disease complicated by endstage renal disease (ESRD) and WPW syndrome.     

A case of retroperitoneal abscess: A rare complication of Meckel’s diverticulum

IntroductionThe frequent complications of Meckel’s diverticulum are hemorrhage, intestinal obstruction, and inflammation, and perforation. The presentation as a retroperitoneal abscess as complications of Meckel’s diverticulum is a very rare clinical entity.Presentation of caseWe report a rare case of perforated Meckel's diverticulum with retroperitoneal abscess.A 31-year-old presented with a half-hour history of severe epigastric pain and diffuse periumbilical pain. Abdominal computed tomography (CT) revealed pneumoperitoneum and retroperitoneal abscesses which air, with diffuse infiltration of the small bowel mesentery and a tubular structure that originated in the ileum at the umbilicus level. Preoperative diagnosis was perforation of Meckel's diverticulum or small bowel perforation. We performed an approximate 10-cm segmental resection of the ileum that contained the Meckel’s diverticulum.DiscussionRetroperitoneal abscesses are rare complications of Meckel’s diverticulum and are associated with its perforation.ConclusionThe complications of Meckel’s diverticulum should be kept in mind in the differential diagnosis of retroperitoneal abscesses.     

Upper gastrointestinal tract involvement in Crohn’s disease: A case report

BackgroundCrohn’s disease (CD) is an inflammatory bowel disease that typically affects the distal part of the gastrointestinal tract (GI) such as the terminal ileum and colon. However, it can affect the upper GI tract, potentially resulting in complications such as strictures, but discussion of the management of such effects is limited in the surgical literature.Case presentationA 39 year old male was referred to our department with stricturing upper GI disease 20 years after CD diagnosis. He had a history of intermittent abdominal pain, nausea, frequent vomiting and weight loss. Imaging demonstrated a long stricture in the duodenum with proximal dilatation. There was no evidence of acute inflammatory Crohn’s disease. A Roux-en-Y bypass was performed to successfully relieve the obstructive symptoms.DiscussionProximal obstructive gastrointestinal manifestations of CD are a rare entity and require a full diagnostic workup and treatment in a specialist centre. A variety of systemic treatments, endoscopic procedures and surgical techniques are addressed in this paper.ConclusionEvidence for the optimal treatment of obstructive upper gastrointestinal CD is limited, but careful consideration of the extent of the disease, thorough preoperative planning and weighing up the benefits and risks can lead to a positive outcome for these patients.     

Enterohepatic fistula in a Crohn’s disease patient: A case report

IntroductionFistulous tracts are a hallmark of Crohn’s Disease. However, solid organ to intestinal fistulas are rare with previously few case reports of colosplenic fistulas and one case report of an enterohepatic fistula.Presentation of caseWe review the available literature and present the first case report of an enterohepatic fistula in a female with Crohn’s Disease to be treated operatively. The patient did well postoperatively with complete resolution of her fistula.DiscussionCrohn’s Disease is an inflammatory bowel disease that can present with fistulas. However, a fistula between the liver and bowel is exceedingly rare with only one previous case report. This is the first report of an enteroheptic fistula that has been managed successfully with an operation.ConclusionNot all enteroenteric fistulas are apparent preoperatively. When discovered, laparoscopic enterohepatic fistula takedown is feasible for this rare disease process manifestation.     

IgA nephropathy in adult-onset Still’s disease after tocilizumab treatment: a case report

International Urology and Nephrology -     

Congenital diplopodia–A rare case of duplicated lower limb: A case report

Introduction and importanceDiplopodia is an extremely rare case in medical history, with an even fewer cases being reported in literature. We intended to enrich the literature about diplopodia with our own case report.Case presentationWe present a case about A boy, aged one year and four months old brought by his mother to the hospital with a chief complaint of a duplicated foot in his right lower leg. Physical examination demonstrated a normal left lower extremity and a relatively well-developed duplicate foot emanating from the posterior-lateral aspect of the mid-lower right leg.Clinical discussionDiplopodia consists of partial duplication of the foot, with or without hypoplasia or positional abnormality of the ipsilateral tibia and fibula. It must be differentiated from polydactyly where the additional structures consist of toes that may or may not have corresponding metatarsals but are devoid of tarsal bone.Treatment should be considered case-by-case basis and tailored appropriately to suit individual needs and circumstances.ConclusionIn our case, operative treatment was done at an early walking age to provide plantigrade, functional foot. Timely surgical intervention will enable patient to adapt over time. The secondary aim is to reconstruct the foot to be more acceptable aesthetically.     

Perianal Paget’s disease: case report and review of the literature

A peri-anal skin lesion, often eczema-like and with symptoms of pruritus, that does not resolve after classical local therapy should be biopsied. We present a case of peri-anal extramammary Paget’s disease (EMDP) and associated anal adenocarcinoma. Reviewing the literature, more than 30% of patients with EMDP present a second primary tumour in their past, present or future history. In Europe, the risk of developing a new primary tumour in patients with this condition is increased compared with the standard population. In cases of peri-anal Paget’s disease (PPD), specific histochemical markers allow us to differentiate between a primary and a secondary form, the secondary one is strongly associated with colorectal and anal tumours. We provide information about the most commonly suggested therapy for PPD with or without associated malignancy and about the recommended follow-up.     

Laparoscopic management of a complicated case of Wilkie’s syndrome: A case report

IntroductionSuperior mesenteric artery (SMA) syndrome also known as Wilkie’s syndrome is a rare condition caused by the entrapment of the third part of the duodenum between the aorta and the SMA. The incidence of Wilkie’s syndrome range between 0.013% and 0.3%. The normal angle between the aorta and SMA has been described to range between 38° and 65°, whereas in Wilkie’s syndrome this angle is reduced to less than 20° causing gastric outlet obstruction.Case presentationWe report a case of a previously diagnosed 43 year-old male with SMA syndrome, whom had been conservatively managed for 5-years for recurrent admissions with symptoms of gastric outlet obstruction. During his last admission, CT abdomen demonstrated gastric pneumatosis and portal venous gas requiring urgent surgical intervention. Duodenojejunostomy was successfully performed using laparoscopic technique.DiscussionSMA syndrome is thought to occur secondary to the rapid and excessive weight loss leading to the reduction of the mesenteric fat around the aorta and SMA, thereby reducing the normal angle between the two arteries. Conservative medical management is usually the first line of treatment in uncomplicated cases. Surgical management is usually reserved only after failed conservative management or complicated cases, at which time either an open or laparoscopic surgical approach is undertaking.ConclusionSurgical intervention is the mainstay in complicated cases of SMA syndrome and in refractory cases to conservative management. Advantages of laparoscopic approach over open surgery include rapid recovery time, reduced post-operative pain and shorter hospital stay.