Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Granata, Claudio; Puri, Prem

doi:10.1097/00005176-199707000-00002

Cited by 64 publications

(45 citation statements)

References 33 publications

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“…As alterações extradigestivas encontradas nos pacientes foram também descritas por outros autores 6,12-16 . Ghavamian & Granata 14,15 observaram que tais manifestações estavam associadas a miopatia visceral. Entretanto, na presente casuística, apenas um paciente (caso1) mostrava esta associação.…”

Section: Discussionunclassified

“…As alterações radiológicas foram semelhantes às referidas por Rudolph & Granata 6,12,14 . Alguns achados na radiografia contrastada são tidos como padrão de POIC como dilatação sem estenose, atividade peristáltica anormal, retardo no esvaziamento gástrico e diminuição das haustrações do cólon 12 .…”

Section: Discussionunclassified

“…O ultra-som (US) do abdome não é rotineiramente utilizado para o diagnóstico de POIC, porém pode ser útil na investigação, inclusive durante o período intra-útero, de alterações extradigestivas associadas a síndrome, como as do trato genitourinário 14,16 .…”

Section: Discussionunclassified

“…Várias técnicas histológicas (imunohistoquímica, coloração pela prata, coloração para acetilcolinesterase, microscopia eletrônica, etc.) estão sendo utilizadas, com o objetivo de diferenciar as alterações estruturais e funcionais dos nervos e músculos entéricos 6,14,18,19 .…”

Section: Discussionunclassified

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Chronic intestinal pseudo-obstruction in children - report of seven cases

Almeida

Penna²

2000

J Pediatr (Rio J)

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ResumoA pseudo-obstrução intestinal crônica (POIC) é uma rara e grave enfermidade clínica, caracterizada por disfunção intestinal, na ausência de obstrução mecânica. A fisiopatologia da POIC permanece pouco conhecida. O diagnóstico é difícil e o tratamento, na maioria das vezes, paliativo.Objetivo: A proposta deste estudo é descrever as manifestações clínicas e alterações histológicas na biopsia intestinal de 7 crianças atendidas no serviço de gastroenterologia (GI).Métodos: Estudo retrospectivo de todos os pacientes atendidos no serviço de GI no período de 10 anos. Os prontuários de sete pacientes foram revisados e todos os dados clínicos relevantes registrados. O diagnóstico foi baseado nos achados clínicos, laboratoriais e histológicos.Conclusão: Embora seja uma síndrome rara, o diagnóstico diferencial deverá ser realizado nos pacientes que apresentem sinais e sintomas de obstrução intestinal do trato digestivo, sem causa mecânica associada. Estudos devem ser incentivados com relação ao diagnóstico precoce, utilizando técnicas menos invasivas, assim como, uma terapêutica específica (clínica e cirúrgica), a fim de melhorar a qualidade de vida e obter maior sobrevida para os pacientes afetados. J. pediatr. (Rio J.). 2000; 76(6):453-457:pseudo-obstrução intestinal crônica, infância, diagnóstico, tratamento. AbstractChronic intestinal pseudo-obstruction (CIP) is a rare and severe clinical entity characterized by impaired intestinal function in the absence of mechanical occlusion demonstrable by X-ray or surgery. The pathophysiology of CIP remains poorly known. The diagnostic approach in CIP is difficult and in most of the times the treatment is merely palliative.Objective: The purpose of this report is to describe the clinical characteristics and histological abnormalities on full-thickness intestinal biopsy in seven children from the Gastroenterology (GI) outpatient clinic.Methods: A retrospective study of all patients who attended the GI outpatient clinic in the last ten years. The medical records of seven patients were reviewed, and all the relevant clinical data recorded. Diagnosis was based on clinical, laboratorial, and histological findings.Conclusion: Although this is a rare syndrome, the differential diagnosis shall be performed whenever the patient presents signs and symptoms of obstruction along the digestive tract with no association of any mechanical cause. Studies shall be encouraged regarding the precocious and accurate diagnosis, using less invasive techniques and specific therapeutics (both clinical and surgical), in order to improve life quality and extended survival of affected patients. Descrita pela primeira vez em 1958 por Dudley 1 , a pseudo-obstrução intestinal crônica (POIC) é uma entidade clínica rara e heterogênea. Caracteriza-se por sinais e sintomas intermitentes de obstrução intestinal sem causa mecânica, decorrente de alteração neuromuscular do tubo digestivo, reversível ou irreversível, na qual o segmento acometido pode ser único ou múltiplo. A apresentação clínica é variável e dep...

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Section: Discussionunclassified

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Chronic intestinal pseudo-obstruction in children - report of seven cases

Almeida

Penna²

2000

J Pediatr (Rio J)

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“…The pathogenesis is varied with possible associations with an abnormal autonomic nervous system [10,11,12,13], degenerative muscle disease [14], imbalance of gut peptides [15], and dysganglinosis or inflammation [16]. Histological studies of the myenteric and submucosal plexuses of the bowel of patients with this syndrome have found normal ganglion cells in the majority of patients, decreased in some, hyperganglionosis and giant ganglia in others [17]. It has been reported that transgenic mice lacking the nAchR α3 subunit have a phenotype similar to that of MMIHS [18].…”

Section: Mr Urography Showed Megacystis Without Ureterohydronephrosismentioning

confidence: 99%

Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome?

Shimizu

Nishio

Ueno

et al. 2011

Journal of Pediatric Surgery

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Family studies of infantile visceral myopathy: A congenital myopathic pseudo-obstruction syndrome

1999

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We conducted family studies of a rare congenital myopathic pseudo-obstruction to provide recurrence risks to families of affected children. This infantile visceral myopathy (IVM) involves the smooth muscles of the digestive tract and frequently the urinary bladder. Family and pregnancy histories from 16 families were evaluated to identify possible environmental or genetic components. The families were ethnically and geographically diverse within the United States. Eleven of the children were alive, four had died, and the status of one was unknown. The sex ratio was 5 females to 11 males. The pregnancy histories provided no evidence of a teratogenic cause. In one family, the disorder passed from parent to child. There were no consanguineous matings, no similarly affected sibs, and except for one case, the family histories did not suggest affected relatives. We suspect a new dominant mutation may be responsible for some cases of IVM, whereas in others, IVM may be caused from a dominant gene with variable expressivity and incomplete penetrance. Therefore, we predict the recurrence risk of severely affected children is much less than the 25 or 50% risk sometimes given families based on the assumption of autosomal recessive or autosomal dominant inheritance. When counseling IVM families, a thorough family history is essential. Subsequent pregnancies should be monitored by ultrasound for megacystis that was detected prenatally in seven of these cases.

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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Cited by 64 publications

References 33 publications

Chronic intestinal pseudo-obstruction in children - report of seven cases

Chronic intestinal pseudo-obstruction in children - report of seven cases

Isolated congenital megacystis without intestinal obstruction: a mild variant of chronic intestinal pseudoobstruction syndrome?

Family studies of infantile visceral myopathy: A congenital myopathic pseudo-obstruction syndrome

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