Congenital Myenteric Hypoganglionosis.

Congenital myenteric hypoganglionosis is a rare developmental disorder characterized clinically by severe and persistent neonatal intestinal pseudoobstruction. The diagnosis is established by the prevalence of small myenteric ganglia composed of closely spaced ganglion cells with sparse surrounding neuropil. In practice, the diagnosis entails familiarity with the normal appearance of myenteric ganglia in young infants and the ability to confidently recognize significant deviations in ganglion size and morphology. We review clinical, histologic, and immunohistochemical findings from 12 patients with congenital myenteric hypoganglionosis in comparison with similar data from age-matched controls and clearly delineate the diagnostic features of the condition. Practical guidelines are provided to assist surgical pathologists, who are likely to encounter this condition only infrequently. The diagnosis typically requires full-thickness intestinal biopsy as the abnormality is confined to the myenteric plexus in many patients. Immunohistochemistry for Hu C/D may be used to confirm hypoganglionosis. Reduced staining for calretinin and NeuN implicates a selective deficiency of intrinsic primary afferent neurons in this disease.

Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy.

AIM: Type IV Ehlers Danlos Syndrome (EDS) is a connective tissue disorder affecting approximately 1 per 100,000-200,000 people. Life expectancy is reduced secondary to spontaneous vascular rupture or colonic perforation. Surgery carries significant morbidity and mortality. While strategies to manage colonic perforation include primary repair with or without a defunctioning stoma, Hartmann's procedure, total abdominal colectomy with end ileostomy and ileorectal anastomosis, evidence is contradictory and has not previously been evaluated in order to form a treatment strategy. We aim to review the published literature and identify outcome data relating to operative management of colonic perforation in type IV EDS. METHODS: Pubmed, EM-BASE, Cochrane library and Google Scholar were searched with the following details: Ehlers Danlos Syndrome AND colonic surgery. The main outcome measure was re-perforation rates following colonic surgery on patients with type IV EDS. If the nature of surgery and follow up were reported, data were recorded in a SPSS database according to PRISMA guidelines. RESULTS: One hundred and nine operations have been described in 51 patients in 44 case series. There were 26 visceral re-perforations, 2 affecting the small intestine and 24 colonic. Survival analysis favoured total abdominal colectomy compared with operations where the colon was left in situ. CONCLUSIONS: Total abdominal colectomy with end ileostomy or ileorectal anastomosis are the safest strategies after colonic perforation in type IV EDS. Anastomotic leak rates are high. End colostomy is high risk for colonic re-perforation and anastomotic leak rates are extremely high. Restoration of colonic continuity should be avoided.

Chronic bowel obstruction from colonic stenosis in early infancy-A report of two cases.

Bowel obstruction in early infancy may result from a variety of congenital anomalies involving parts of the small and large bowel. However, in infancy, chronic bowel obstructions from congenital or acquired stenosis of the colon are rare and can cause diagnostic quandary. We present two cases of an eleven-week old male and a nine-week old male with massive abdominal distension and features of chronic bowel obstruction dating from neonatal period. In the first case investigations were inconclusive and laparotomy revealed isolated stenosis of the ascending colon. In the second case colonic stenosis was suspected preoperatively and a barium enema done showed multiple colonic stenosis confirming our working diagnosis. The diagnostic dilemmas encountered in managing the first patient are discussed to highlight the need for high index of suspicion of this condition in infants with chronic constipation. The way experience in managing the first case influenced diagnosis of the second case is also highlighted.

Tubular colonic duplication in an adult: case report and brief literature review.

Gastrointestinal tract duplication is a rare congenital anomaly that can occur anywhere along the alimentary tract. Most of the reported patients present with acute abdomen during childhood. We describe a case of tubular colonic duplication in an adult. The patient was a 25-year-old woman who presented with abdominal pain, bloating, nausea, and emesis for 3 days. The physical examination was remarkable for abdominal distension, tenderness, and rigidity. Abdominal computed tomography scan revealed abnormal intestinal dilatation. Exploratory laparotomy was performed, and tubular colonic duplication was identified intraoperatively. The diagnosis was verified by postoperative pathology results. The patient was discharged on postoperative day 14 and followed for 2 years without specific events or complications. Furthermore, we reviewed the published literature on colorectal duplication in adults for the past two decades.

Whole exome sequencing reveals rare variants linked to congenital pouch colon.

We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz. OAS2, GBA3 and PKD1L2 affecting the colon tissue. While our results have paved way for transcendence of monogenic traits in identifying the genes underlying rare genetic disorders, it will provide helpful clues for further investigating genetic factors associated with anorectal anomalies, particularly CPC.

Congenital duodenocolic fistula in a dog.

A one-year-old female cocker spaniel presented with a 6-month history of persistent diarrhoea. Abdominal ultrasonographic examination revealed mild diffuse thickening of the intestinal wall coupled with mesenteric lymphadenopathy. A connection between the duodenum and the colon was observed during an endoscopic procedure and confirmed by computed tomography. Surgical resection of the communication allowed remission of the diarrhoea. Histology showed a normal duodenal epithelium and muscular layer. A duodenocolic fistula is an abnormal connection within the digestive tract, which in humans is usually considered a complication of a local pathological condition. Due to the absence of a predisposing cause and, in view of the dog's age and histological results, a congenital origin was suspected.

Histopathological and Immunohistochemical Findings in Congenital Pouch Colon: A Prospective Study.

BACKGROUND: There is a paucity of literature on the histopathological aspects of congenital pouch colon (CPC) and immunohistochemical (IHC) assessment has not been reported. So we planned to study the histopathological and IHC findings within the spectrum of CPC and compare the findings with the normal colon. METHODS: This is a descriptive prospective study on CPC patients. There were 49 cases of CPC (42 males and 7 females) and 13 controls. Histological examination was done using hematoxylin and eosin and Masson trichrome stain. IHC analysis was done with actin, myosin, and desmin antibodies, and neuron-specific enolase and S100 markers for counting ganglionic cells. RESULTS: Histologically, congestion, edema and hemorrhage were seen in mucosa, submucosa, and serosa. Muscle layers were disrupted and divided into bands. An additional muscle coat inside of the muscularis propria was seen in CPC types 1 and 2. Mature ganglionic cells were reduced and muscle layers showed reduced and patchy positivity for smooth muscle actin, myosin, and desmin compared to a normal colon. CONCLUSIONS: Histopathological and IHC findings suggest that CPC has distinct defects in the neuromusculature.

Segmental Absence of Intestinal Musculature in a 64-Year-Old Female: Case Report and Literature Review.

BACKGROUND Segmental absence of intestinal musculature is a well described entity in premature infants. It presents with peritonitis, bowel perforation, and obstruction. The diagnosis is based on pathologic observation of absence of intestinal musculature. Researchers hypothesized that this entity is a result of a vascular accident during embryogenesis. However, segmental absence of intestinal musculature is no longer limited to the pediatric population. Recently, a few cases have been described in adults with and without significant vascular diseases. This change in the age of the affected population with segmental absence of intestinal musculature makes the understanding of the pathogenesis of this entity even more challenging. CASE REPORT Here, we report a case of segmental absence of intestinal musculature in a 64-year-old female. The patient presented to the emergency room with sudden onset of abdominal pain and signs of peritonitis. Abdominal computed tomography showed free air in the abdomen. Laparotomy was performed, and a perforation involving the descending colon was identified. Left hemicolectomy was performed. Pathologic examination of the resected colon showed segmental absence of intestinal musculature. CONCLUSIONS Although the pathologic diagnosis of segmental absence of intestinal musculature is straightforward, the assumption that this condition is limited to the pediatric population is a major player in overlooking this diagnosis in adults. Pathologists should be aware that this condition can present in adults and is segmental. Gross and microscopic examination of perforated intestine is required to reach the correct diagnosis. To our knowledge, twelve cases of this entity have been described in adults. Here we present the thirteenth case of segmental absence of intestinal musculature in an adult, and we discuss the clinical and pathologic findings of this entity as well as its pathogenesis.

A case of sigmoid colon duplication in an adult woman.

Colonic duplication is a rare congenital anomaly that is often diagnosed in childhood, but may go unrecognised until adulthood. It often presents with chronic abdominal pain and constipation, and the preoperative diagnosis may be difficult. We present a case of sigmoid duplication in a 33-year-old Indonesian woman who presented with right-sided colicky abdominal pain and vomiting. Clinical examination was unremarkable and radiological investigations raised the possibility of a giant colon diverticulum. The patient underwent exploratory laparotomy that revealed a tubular sigmoid duplication. A sigmoid colectomy with end-to-end anastomosis was performed. She was discharged a week later and remained well at 1 year follow-up. Colon duplications rarely present in adult life and the accurate diagnosis is often made at laparotomy.

Congenital intestinal duplication in an adult.

Congenital intestinal duplication is an anomaly most commonly diagnosed in children under the age of 2. Rarely, it is seen in adults who remain asymptomatic or present with vague abdominal symptoms. Here, we describe the case of a 33-year-old female who was diagnosed intraoperatively with congenital intestinal duplication after suffering from a year of vague abdominal complaints.

Two-staged management for all types of congenital pouch colon.

BACKGROUND: The aim of this study was to review our experience with two-staged management for all types of congenital pouch colon (CPC). PATIENTS AND METHODS: This retrospective study included CPC cases that were managed with two-staged procedures in the Department of Paediatric Surgery, over a period of 12 years from 1 January 2000 to 31 December 2011. RESULTS: CPC comprised of 13.71% (97 of 707) of all anorectal malformations (ARM) and 28.19% (97 of 344) of high ARM. Eleven CPC cases (all males) were managed with two-staged procedures. Distribution of cases (Narsimha Rao et al.'s classification) into types I, II, III, and IV were 1, 2, 6, and 2, respectively. Initial operative procedures performed were window colostomy (n = 6), colostomy proximal to pouch (n = 4), and ligation of colovesical fistula and end colostomy (n = 1). As definitive procedures, pouch excision with abdomino-perineal pull through (APPT) of colon in eight, and pouch excision with APPT of ileum in three were performed. The mean age at the time of definitive procedures was 15.6 months (ranges from 3 to 53 months) and the mean weight was 7.5 kg (ranges from 4 to 11 kg). Good fecal continence was observed in six and fair in two cases in follow-up periods, while three of our cases lost to follow up. There was no mortality following definitive procedures amongst above 11 cases. CONCLUSIONS: Two-staged procedures for all types of CPC can also be performed safely with good results. The most important fact that the definitive procedure is being done without protective stoma and therefore, it avoids stoma closure, stoma-related complications, related cost of stoma closure and hospital stay.

Extrinsic colonic obstruction by congenital fibrous band in an infant.

The finding of a congenital fibrous band during laparotomy for intestinal obstruction is extremely rare. Preoperative diagnosis is challenging and no characteristic radiological findings have been described. We report the case of a premature baby in whom incomplete intestinal obstruction was due to a congenital band originating from the duodeno-jejunal flexure and extending across the ascending colon.

Rare case of disseminated neonatal zygomycosis mimicking necrotizing enterocolitis with necrotizing fasciitis.

A set of monochorionic male twins presented with intestinal perforation. The smaller twin was diagnosed with necrotizing enterocolitis followed by sepsis, disseminated intravascular coagulation, and necrotizing fasciitis of the abdominal wall. The infant died on the fourth day after surgery, 16 days after birth. Surgical specimens and autopsy revealed a disseminated zygomycotic infection. Gastrointestinal zygomycosis followed by necrotizing fasciitis in premature infants is a rare condition and mimics necrotizing enterocolitis clinically. Necrotizing fasciitis after gastrointestinal zygomycosis in premature infants is considered a poor prognostic sign. Gastrointestinal zygomycosis should be considered in the differential diagnosis of necrotizing enterocolitis.

Laparoscopically excised completely isolated enteric duplication cyst in adult female: a case report.

Enteric duplication cysts are hollow, epithelium-lined, cystic, spherical, or tubular structures that are firmly attached to the wall of the gastrointestinal tract. Commonly they are supplied by surrounding mesenteric blood vessels. However, completely isolated duplication cysts do not communicate with the normal bowel segment and have their own exclusive blood supply. They are a very rare variety of gastrointestinal duplications. In the English medical literature there are 5 earlier reported cases: 4 in pediatrics and 1 in an adult male age 28 years. We report a case of a 27-year-old female patient presenting with a completely isolated (noncontiguous) enteric duplication cyst with its own vascular pedicle. This case represents a rare clinical example of an isolated enteric duplication cyst removed by laparoscopic excision. To the best of our knowledge, this is the first reported case of its kind in an adult female and the first case to use laparoscopy to remove the cyst.

Role of plain abdominal radiographs in predicting type of congenital pouch colon.

BACKGROUND: Congenital pouch colon (CPC) is a rare form of high ano-rectal malformation (ARM) in which part of or the entire colon is replaced by a pouch with a fistula to the genito-urinary tract. According to the Saxena-Mathur classification CPC is divided into five types. Although plain abdominal radiographs are taken in infants with suspicion of CPC to detect large dilatation of the pouch, the determination of the type of CPC is made during surgical exploration. Since large variations in the length of normal colon are present in the various types, management strategy options can be determined only at the time of surgery. OBJECTIVE: The aim of this study was to review abdominal radiographs of children with congenital pouch colon (CPC) and evaluate their value in determining the type of CPC prior to surgical exploration to assist pre-operative planning. MATERIALS AND METHODS: Over a 12-year period (1995-2007), CPC was documented in 80 children (52 boys and 28 girls, age range 1 day-9 years, median 2.4 days) and retrospective analysis of plain abdominal radiographs of 77 children at the time of presentation was performed. Radiographic findings were correlated with surgical findings. RESULTS: Of 77 children, 5 were excluded from the study since the pouch colon was perforated. The direction of the pouch apex was correlated with surgical findings to determine the CPC type (P<0.0001, Fisher exact test). Type 1 (17/18) and type 2 CPC (18/18) were characterized by a single large pouch with the apex positioned in the left hypochondrium. In type 3 CPC (2/2) the pouch apex was directed towards the right hypochondrium. In type 4 CPC the apex of the pouch was directed towards the right hypochondrium (28/33); however in 5 children it was towards the left hypochondrium. In type 5 CPC (n=1) the radiograph was inconclusive. CONCLUSION: Plain abdominal radiographs have a predictive value in determining the type of CPC and obviating the need for an invertogram.

Congenital colonic atresia: report of one case.

Colonic atresia is a very rare cause of intestinal obstruction, and surgical management is the mainstay of therapy. A case of congenital colonic atresia is reported in a full-term neonate who presented with delayed passage of meconium, abdominal distention and bilious vomiting. The present case and the pertinent literature are discussed, with an emphasis on surgical management.

Congenital stenosis of the colon with foreign bodies. Case report.

BACKGROUND: Colonic stenosis is rarely seen in pediatric practice. Its incidence has been reported as 1/40,000 births. Ascending and transverse colon are the most common sites affected. Symptoms may be present at birth. CLINICAL CASE: We present the case of a 2 year, 11 month old male. Since birth, the patient had symptoms of constipation, abdominal pain and abdominal distension. X-ray of the abdomen showed a dilated colon and foreign bodies on the right side. Barium enema was normal. The stenotic segment was resected. Foreign bodies were removed and alimentary continuity was restored by end-to-end anastomosis. The pathologist found a 5-cm lumen at the stenosis. Histological ganglion cells were present throughout the specimen. The patient evolved favorably postoperatively and was discharged 1 week after surgery. The patient has been in good health for 2 years. CONCLUSIONS: Colonic stenosis is uncommon. Abu-Judeh reported on one case and a review of the literature revealed eight cases of congenital colonic stenosis since 1941. Symptoms are abdominal distension, vomiting and constipation with symptom remission, making diagnosis difficult. This is the first report involving foreign bodies. Barium enema and colonoscopy are necessary for diagnosis. Resection of the stenotic segment with end-to-end anastomosis or colostomy is the treatment of choice. Laparoscopy is an alternative procedure.

Estenosis congénita de colon con retención de cuerpos extraños: informe de un caso / Congenital stenosis of the colon with foreign bodies: case report

Introducción: La estenosis del colon es rara, con una incidencia de uno entre 40 mil nacimientos. El colon ascendente y transverso son los más afectados. Las manifestaciones clínicas pueden aparecer desde el nacimiento. Caso clínico: Niño de dos años 11 meses de edad, con cuadros periódicos de estreñimiento, dolor tipo cólico y distensión abdominal. La radiografía simple de abdomen mostró dilatación de asas y cuerpos extraños. El colon por enema fue normal. Por laparotomía exploradora se identificó estenosis en el colon transverso. Se practicó resección, extracción de cuerpos extraños y anastomosis término-terminal. El examen histopatológico mostró estenosis con lumen de 0.5 cm; las células ganglionares estuvieron presentes entre las capas musculares. A dos años de la cirugía, el paciente se encontraba asintomático. Conclusiones: La estenosis congénita de colon es poco frecuente. Abdu-Judeh informa un caso y refiere ocho descritos desde 1941. Las manifestaciones clínicas son estreñimiento, vómito y distensión abdominal, sin embargo, los pacientes pueden permanecer asintomáticos por periodos variables, lo que dificulta y retrasa el diagnóstico. No existe informe previo acerca de la retención de cuerpos extraños. El colon por enema y la colonoscopia son necesarios para el diagnóstico oportuno. El tratamiento electivo es la resección quirúrgica con anastomosis primaria o colostomía; una opción es la cirugía laparoscópica.

BACKGROUND: Colonic stenosis is rarely seen in pediatric practice. Its incidence has been reported as 1/40,000 births. Ascending and transverse colon are the most common sites affected. Symptoms may be present at birth. CLINICAL CASE: We present the case of a 2 year, 11 month old male. Since birth, the patient had symptoms of constipation, abdominal pain and abdominal distension. X-ray of the abdomen showed a dilated colon and foreign bodies on the right side. Barium enema was normal. The stenotic segment was resected. Foreign bodies were removed and alimentary continuity was restored by end-to-end anastomosis. The pathologist found a 5-cm lumen at the stenosis. Histological ganglion cells were present throughout the specimen. The patient evolved favorably postoperatively and was discharged 1 week after surgery. The patient has been in good health for 2 years. CONCLUSIONS: Colonic stenosis is uncommon. Abu-Judeh reported on one case and a review of the literature revealed eight cases of congenital colonic stenosis since 1941. Symptoms are abdominal distension, vomiting and constipation with symptom remission, making diagnosis difficult. This is the first report involving foreign bodies. Barium enema and colonoscopy are necessary for diagnosis. Resection of the stenotic segment with end-to-end anastomosis or colostomy is the treatment of choice. Laparoscopy is an alternative procedure.