Jejunal diverticulum with ectopic pancreatic mucosa: Was it really a Meckel's diverticulum?

We report the case of a 72-year-old man who underwent surgery for a jejunal intussusception caused by an infarcted mass on the antimesenteric surface of the small bowel approximately 90 cm from the duodenojejunal flexure. The specimen was reported as an infarcted diverticulum containing heterotopic pancreatic mucosa in keeping with infarcted Meckel's diverticulum. We initially wished to establish when the term "Meckel's diverticulum" should be used. The anatomical site in the present case argues against this being a Meckel's diverticulum, a remnant from the mid-gut loop. Non-Meckelian diverticula are usually acquired and often multiple and generally occur on the mesenteric border of the bowel. It is rare for them to contain ectopic mucosa. The diverticulum in our patient thus has features which suggest it may have been congenital. We believe our patient had a rare occurrence of a congenital, but non-Meckelian, diverticulum with associated ectopic epithelium.     

Coexistence of a Meckel's diverticulum and a urachal remnant

Meckel's diverticulum, which is a remnant of the omphalomesenteric or vitelline duct, is the most common congenital abnormality of the gastrointestinal system. Urachal abnormalities, resulting from anomalous urogenital development, are not observed frequently and case reports are mainly represented in literature. The presence of these two congenital anomalies together is a very rare pathology. Complications arising from a Meckel's diverticulum or urachal remnant may clinically mimic acute appendicitis and other surgical pathologies. We report on a patient who underwent surgery for acute appendicitis when it was discovered that the symptoms were produced by a perforated Meckel's diverticulitis. In the course of the surgery, a urachal remnant was found to coexist with the diverticulum.     

Mesodiverticular band and sudden death in children. A report of two cases

Meckel's diverticulum is occasionally associated with a fibrous band, which connects the tip of the diverticulum to the mesentery. Beneath this mesodiverticular band, herniated loops of small bowel can incarcerate and infarct. The high mortality rate and the suddenness of death associated with this internal hernia make it important to the forensic pathologist.     

Right Sided Congenital Diaphragmatic Hernia-A Case Report with a Brief Review

Congenital diaphragmatic hernia occurs in 1 in 2000-4000 live births and accounts for 8% of all major congenital anomalies. Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns because the key to survival depends on the prompt diagnosis and treatment. We are presenting here one such congenital diaphragmatic hernia. In North Bengal Medical College a fullterm female baby was delivered with respiratory distress, scaphoid abdomen and cyanosis. Immediately chest X-ray and CT scan of thorax and abdomen was done to assess symptomatically and clinically suspected case of congenital diaphragmatic hernia. It was a case of right sided congenital diaphragmatic hernia. The presented case report might help us to remain conscious about such congenital anomaly in a case of respiratory distress and help us to chalk out the immediate measurements accordingly to save lives of those unfortunate newborns.     

Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).

We report a stillborn female infant with multiple internal and external anatomic abnormalities and mosaicism for isochromosome 12p. These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs, agenesis of pericardium, and Meckel's diverticulum. Karyotypic analysis on cord blood lymphocytes showed 10% mosaicism of 46,XX/47,XX, + i(12p), and analysis of skin fibroblasts showed 50% mosaicism for the same karyotype. The parental karyotypes were normal. There are many reported cases describing the anomalies seen in isochromosome 12p. None of these cases, however, have displayed pericardial agenesis or aplasia cutis. The clinical and cytogenetic features of Pallister-Killian syndrome are reviewed.     

Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant.

We report on a liveborn premature male with trisomy 22 who had multiple congenital anomalies, including congenital diaphragmatic hernia and absence of corpus callosum. He died of pulmonary hypoplasia associated with diaphragmatic hernia within 12 hours of age. Chromosome analysis by multiple banding techniques based on lymphocyte culture confirmed that he had trisomy 22. This may be the first report of congenital diaphragmatic hernia and isolated absence of corpus callosum associated with trisomy 22.     

Congenital hydrocephalus--analysis of 49 cases.

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.     

Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant

We report on a liveborn premature male with trisomy 22 who had multiple congenital anomalies, including congenital diaphragmatic hernia and absence of corpus callosum. He died of pulmonary hypoplasia associated with diaphragmatic hernia within 12 hours of age. Chromosome analysis by multiple banding techniques based on lymphocyte culture confirmed that he had trisomy 22. This may be the first report of congenital diaphragmatic hernia and isolated absence of corpus callosum associated with trisomy 22. © Wiley-Liss, Inc.     

Meckel's diverticulum: a review

Meckel's diverticulum is the most prevalent congenital abnormality of the gastrointestinal tract. This anomaly is due to the incomplete obliteration of the omphalomesenteric duct during the 7th week of gestation and is classically located 2 feet proximal to the ileocecal valve. Variations of this congenital malformation have been recorded based on location, size, and form. While most of the population may be asymptomatic, clinical manifestation, including gastrointestinal bleed and intestinal obstruction, can emerge. Despite the frequency of Meckel's diverticulum, it is commonly misdiagnosed due to its mimicry of appendicitis. This article aimed to review this derailment of embryological development.     

Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.

We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.     

Diaphragmatic hernia in the south-west of England.

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.     

Bleeding Meckel's diverticulum in an adult

The diagnosis of a symptomatic Meckel's diverticulum in an adult is uncommon. Still more infrequent is the presentation of a bleeding Meckel's diverticulum after childhood. We present a case report of a 24-year-old male with gastrointestinal hemorrhage secondary to a Meckel's diverticulum containing ectopic gastric mucosa. With the exception of a Meckel's Tc 99m pertechnetate scan, all other diagnostic procedures including Tc 99m-labeled red cell scan and angiography were negative.     

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome

We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months, Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of thes condition may influence their clinical management and prognosis. © 1993 Wiley-Liss, Inc.     

Morgagni hernia with Down syndrome: a rare association -- case report and review of literature

Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with Down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. Literature review revealed only 18 cases of Morgagni hernia with Down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in Down syndrome.     

Tumor of the atrioventricular nodal region. A clinical and immunohistochemical study

Autopsy specimens of 17 tumors of the atrioventricular nodal region were studied. Sudden death occurred in 14 children and adults; seven of these patients had a history of atrioventricular block or syncope. Three tumors were incidental findings in infants with other congenital anomalies; diaphragmatic agenesis, pulmonary hypoplasia, and Meckel's diverticulum in one patient; mitral atresia in one; and congenital hydrocephalus, ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, and patent omphalovitelline duct in the third. Immunohistochemical stains demonstrated strong positivity for carcinoembryonic antigen in 13 of 13 cases, B72.3 antigen in 5 of 7 cases, and cytokeratin in 11 of 11 cases. Twenty control cases of mesothelioma and mesothelial hyperplasia were all negative for B72.3; one showed focal carcinoembryonic antigen staining. Ultrastructural analysis of one case demonstrated short rudimentary microvilli not characteristic of mesothelial cells. We conclude that so-called mesotheliomas of the atrioventricular nodal region are not of mesothelial origin, because of strong carcinoembryonic antigen positivity and occasional positivity with B72.3, as these antibodies react with glycoproteins found in endodermally derived tissue and generally not with mesothelial tissue. Conduction system tumors are most likely congenital rests of endodermal origin, can be associated with other congenital anomalies, and often cause symptoms of heart block and sudden death.     

影响先天性膈疝患儿生存率的危险因素分析

目的探讨影响先天性膈疝（CDH）患儿生存率的危险因素。方法青岛市第八人民医院产科1995年10月至2010年09月15年间分娩临床资料完整的CDH患儿11例,回顾性分析出生胎龄、母体分娩方式、诊断时机、患儿染色体核型、膈疝发生的部位、合并的其他结构畸形、是否有肝突出、纵膈移位等因素。结果 11例CDH中单纯CDH 6例,染色体核型异常CDH 3例,伴相关结构畸形者4例（其中2例同时伴染色体核型异常）。左侧膈疝8例,右侧膈疝3例。产前诊断1例,其余均产后诊断或死亡后尸检诊断。患儿的总体病死率为81.8%。其中围产儿死亡率72.7%（8/11）,新生儿晚期死亡率9.1%（1/11）,幸存率18.2%（2/11）。结论 CDH患儿病死率很高。右侧膈疝、肝突出、纵膈移位等可能是单纯性CDH预后不良的危险因素。CDH合并相关结构畸形和染色体核型异常者预后不良。加强产前诊断中高危因素的评估有望提高CDH幸存率。     

Small intestinal ulceration secondary to carcinoid tumour arising in a Meckel's diverticulum.

A solitary small intestinal ulcer associated with a carcinoid tumour in a nearby Meckel's diverticulum was found in a 77 year old man presenting with massive rectal bleeding. Angiography and a radioisotope study localised the bleeding to the ileum. At operation, the Meckel's diverticulum was identified, with bleeding from an ulcer just distal to it. Pathological examination revealed a small carcinoid tumour confined to the Meckel's diverticulum. Close to the opening of the diverticulum, within the ileum, a well demarcated ulcer was present. Histology showed a non-specific ulcer which eroded a large blood vessel. This is the first documented occurrence of solitary small intestinal ulceration in association with a carcinoid tumour. Carcinoid tumour should be added to the list of possible causes of small intestinal ulceration. The ulceration may be secondary to release of cytokines by the tumour.     

Villous adenoma arising in Meckel's diverticulum.

The first well documented case of villous adenoma arising in a Meckel's diverticulum not associated with a carcinoma is reported. A 21 year old man with long history of medically treated ulcerative colitis was admitted to hospital with severe pain and bleeding. Total abdominal colectomy and ileo-anal anastomosis was performed and during this procedure Meckel's diverticulum containing a villous adenoma showing minimal dysplasia was found and resected. The diverticulum was lined partly by ileal and partly by gastric epithelium, and the villous adenoma originated from the gastric mucosa.     

Congenital diaphragmatic hernia in WAGR syndrome

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have diaphragmatic hernias. Case reports describing congenital diaphragmatic hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type diaphragmatic hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type diaphragmatic hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia.     

Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst

We present a male infant with a giant omphalocele, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb.