1/24. Hypoganglionic megacolon associated Chiliaditi's syndrome treated by subtotal colectomy: a case report.In 1910, Chiliaditi described hepatodiaphragmatic interposition of the colon (Chiliaditi's syndrome). The condition is easily recognised on an antero-posterial chest radiograph. The interposed segment of bowel is usually the hepatic flexure of the colon. The degree of interposition varies from simple wedging to complete occupation of the right subdiaphragmatic space. The management is usually conservative and surgical intervention is rarely indicated. We present a patient with hepatodiaphragmatic interposition of the colon, associated with megacolon, requiring subtotal colectomy and ileosigmoid anastomosis for severe chronic constipation.- - - - - - - - - - ranking = 1keywords = megacolon (Clic here for more details about this article) |
2/24. Abdominal compartment syndrome in a patient with congenital megacolon.A 13-year-old male with a history of chronic congenital megacolon presented to the emergency department with a 1-day history of increasing abdominal pain, distension, and emesis. The patient was admitted for bowel disimpaction and irrigation. The patient rapidly developed an acute abdominal compartment syndrome because of his massive colonic dilation. Surgical decompression resulted in a reperfusion phenomenon and ultimately resulted in coagulopathy and patient demise. This case presents a unique cause of the abdominal compartment syndrome and discusses the implications to the emergency physician.- - - - - - - - - - ranking = 1keywords = megacolon (Clic here for more details about this article) |
3/24. Chronic constipation due to Hirschsprung's disease and desmosis coli in a family.Five members of a family are described, all of whom suffered from chronic constipation and megacolon. Detailed clinical and histologic evaluation of each member revealed that two individuals have histologic evidence of desmosis coli and three have Hirschsprung's disease, one of whom also has desmosis coli. The latter combination has never been described before, either in a family or in a single patient. Genetic studies of the family did not reveal an increase in the number of shared markers for the RET proto-oncogene, suggesting that this previously undescribed familial association is likely not caused by a mutation in the RET gene, but by other genetic abnormalities.- - - - - - - - - - ranking = 0.2keywords = megacolon (Clic here for more details about this article) |
4/24. Intestinal microvillous atrophy in a patient with down syndrome and aganglionic megacolon.Intestinal microvillous disorders are an uncommon cause of severe diarrhea, with very poor prognosis. The authors report the case of a female infant with down syndrome, aganglionic megacolon, severe diarrhea, and jejunal biopsy with ultrastructural changes consistent with microvillous atrophy. The patient condition improved after a colostomy performed in the setting of the treatment of Hirschprung disease.- - - - - - - - - - ranking = 1keywords = megacolon (Clic here for more details about this article) |
5/24. Late infantile hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.- - - - - - - - - - ranking = 0.2keywords = megacolon (Clic here for more details about this article) |
6/24. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.Neurocristopathies are a group of diverse disorders resulting from defective growth, differentiation, and migration of the neural crest cells. Hirschsprung's disease, namely aganglionic megacolon, is the consequence of defective migration of neural crest cells on to the colonic submucosa and is therefore considered a neurocristopathy. We report on four children in whom was diagnosed a neurocristopathy, associating Hirschsprung's disease with a wide spectrum of neurologic abnormalities. The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child. The third newborn presented with the Haddad syndrome: short-segment Hirschsprung's disease associated with the congenital central hypoventilation syndrome requiring permanent artificial ventilation. In the fourth child, absence of the corpus callosum was associated with mild dysmorphic features, borderline cognitive abilities, and attention-deficit disorder. Therefore, awareness of a possible neurocristopathy associated with neurologic abnormalities should be taken into account in any patient newly diagnosed with Hirschsprung's disease to detect the abnormalities early and promptly manage them. A thorough neurologic examination and a developmental assessment, including magnetic resonance imaging of the brain and electroencephalography, should be performed for any child presenting with an aganglionic megacolon, especially those presenting with seizures, developmental delay, or even congenital hypoventilation.- - - - - - - - - - ranking = 0.4keywords = megacolon (Clic here for more details about this article) |
7/24. Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with rubinstein-taybi syndrome.We report on a Brazilian boy with rubinstein-taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.- - - - - - - - - - ranking = 1.2keywords = megacolon (Clic here for more details about this article) |
8/24. frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).We report a girl who had hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and mental retardation (Mowat-Wilson syndrome). Mutation analysis of the zinc finger homeo box 1 B (ZFHX1 B) gene revealed a de novo 7 bp deletion (TGGCCCC) at nucleotide 1773 (1773 delTGGCCCC) resulting in a frameshift and leading to a termination codon at amino acid residue 604 (604 X) in exon 8 C. The zinc finger homeo box 1 B (Smad interacting protein-1) is a transcription corepressor of Smad target genes with functions in the patterning of neural crest derived cells, CNS, and midline structures. Mutations in ZFHX1 B can lead to neurological disorders in addition to dysmorphic features, megacolon, and other malformations.- - - - - - - - - - ranking = 0.2keywords = megacolon (Clic here for more details about this article) |
9/24. Haddad syndrome: a case study.Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.- - - - - - - - - - ranking = 0.2keywords = megacolon (Clic here for more details about this article) |
10/24. Ileal atresia associated with hirschsprung disease (total colonic aganglionosis).One of the most common causes of small bowel obstruction in newborns is ileal atresia, and one of the most common causes of colonic obstruction in neonates is aganglionic megacolon (hirschsprung disease). However, atresias of the small intestinal tract associated with hirschsprung disease are extremely rare. We describe an infant born with both ileal atresia and hirschsprung disease. This is the 19th known report of the case of an infant who had ileal atresia associated with hirschsprung disease.- - - - - - - - - - ranking = 0.2keywords = megacolon (Clic here for more details about this article) |
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