scholarly journals Prenatal diagnostic and management of megacystis microcolon intestinal hypoperistalsis syndrome: A report on a rare case in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

2020 ◽  
Vol 28 (2) ◽  
pp. 93
Author(s):  
Fita Maulina ◽  
Yuditiya Purwosunu
Keyword(s):  
Antenatal Diagnosis ◽  
Abdominal Distension ◽  
Severe Form ◽  
Normal Amount ◽  
Fatal Disease ◽  
Prenatal Diagnostic ◽  
Distended Bladder ◽  
Functional Intestinal Obstruction ◽  
Characteristic Features ◽  
Hypoperistalsis Syndrome

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydro nephrosis. Some previous reports have revealed that the typical antenatal sonographic findings are as follows: a greatly distended bladder, bilateral hydro nephrosis, and a normal amount of amniotic fluid; however, the antenatal diagnosis of this syndrome is occasionally difficult.

scholarly journals Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Mehmet Melek ◽  
Yesim Edirne ◽  
Burhan Beger ◽  
Mecnun Cetin
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Fatal Disease ◽  
Antenatal Ultrasound ◽  
Hypoperistalsis Syndrome

Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth.

scholarly journals Gastrointestinal manifestations of Fasciolopsis buski associated polyparasitism in patients of an endemic area: a hospital based study

2017 ◽  
Vol 4 (6) ◽  
pp. 1898 ◽  
Author(s):  
Shilpi Ranjan ◽  
Kumar Saurabh ◽  
Rajeev Ranjan Prasad
Keyword(s):  
Intestinal Parasites ◽  
Tertiary Care ◽  
Abdominal Distension ◽  
Complete Recovery ◽  
Severe Form ◽  
School Age Children ◽  
Common Finding ◽  
Tertiary Care Centre ◽  
Gastrointestinal Manifestations ◽  
Fasciolopsis Buski

Background: The objective of the study was to describe the gastrointestinal manifestations of Fasciolopsis buski associated polyparasitism. Methods: A retrospective study in the form of chart review of twenty patients was done who passed either adult F. buski or ova per stool and their stool samples were also positive for other intestinal parasites. This study was done in a tertiary care centre of north Bihar during the time period of January 2016 to December 2016. Gastrointestinal manifestations of the patients were evaluated and treatment outcome was seen. Results: School age children were the most affected population. Diarrhoea either acute or persistent was the most common presentation. Some and severe dehydration was present in 50% cases. Pain abdomen (60%) was the common finding in children whereas adults having abdominal distension (40%) as a major complain. Anaemia was present in almost all cases. 30% cases even required blood transfusion. H. nana was the most common associated parasite followed by Ascaris. One patient had evidence of five different parasites in his stool sample. Patients were treated with Praziquantal, Albendazole and Metronidazole with complete recovery. Conclusions: F. buski associated with polyparasitism presents with a more severe form of disease than Fasciolopsiasis itself. Aggressive treatment is required. 

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Barbara Markota ◽  
Anna Maria Gross ◽  
Christian Specht ◽  
Caroline Schertler ◽  
Melissa Rhomberg ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Surgical Treatment ◽  
Diagnostic Criteria ◽  
Antenatal Diagnosis ◽  
Congenital Disorder ◽  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Rare Congenital Disorder ◽  
Hypoperistalsis Syndrome

AbstractMegacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder, acknowledged as the most debilitating form of chronic intestinal pseudoobstruction disorders. Because the disease is often fatal in the first years of life and the surviving individuals are dependent on supportive medical or surgical treatment, definite antenatal diagnosis is desirable. We report a case of prenatally diagnosed MMIHS and discuss the suspicious findings and diagnostic criteria that allow a rapid and definite prenatal diagnosis.

scholarly journals Case Report: Eosinophilic Myenteric Ganglionitis in a Child With Hirschsprung's Disease: A Challenge in Pseudo-Obstruction

2021 ◽  
Vol 8 ◽  
Author(s):  
Enza D'Auria ◽  
Valeria Calcaterra ◽  
Luciano Maestri ◽  
Milena Meroni ◽  
Giorgio Giuseppe Orlando Selvaggio ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Clinical Symptoms ◽  
Abdominal Distension ◽  
Specific Ige ◽  
Elimination Diet ◽  
Long Term Follow Up ◽  
Functional Intestinal Obstruction ◽  
Infectious Enterocolitis

Introduction: The presentation of eosinophilic myenteric ganglionitis (EMG) can be similar to that of Hirschsprung's disease (HD). In a limited number of cases of pediatric patients, the diagnosis of both EMG and HD are reported. A case of pseudo-obstruction in EMG occurring in a child with HD diagnosis is discussed with literature review.Case Presentation: A boy aged 2 years and 6 months presented with intractable constipation and abdominal distension. Histological HD diagnosis was carried out and transanal Soave pullthrough was performed. At the age of 3 years and 2 months, an infectious enterocolitis occurred. One month later, he presented with constipation, marked abdominal distension and melena. Full thickness colonic biopsies revealed eosinophilic myenteric ganglionitis. Specific IgE tests were positive for several foods. Dietary exclusion was adopted with resolution of clinical symptoms and histologic remission.Conclusion: EMD may occur in patients with HD. At the onset, EMD may be associated with functional intestinal obstruction. The use of an elimination diet proved effective for the relief of symptoms. Long term follow-up is mandatory to define the timing of the reintroduction of foods.

scholarly journals THERAPEUTIC CHALLENGES AND COMPLICATIONS IN A CASE OF ARTHRITIS MUTILANS

2016 ◽  
Vol 25 (1) ◽  
pp. 43-45
Author(s):  
Violeta Bojinca ◽  
◽  
Raluca Malitchi ◽  
Madalina Duna ◽  
Cristina Capusa ◽  
...  
Keyword(s):  
Degenerative Joint Disease ◽  
Severe Form ◽  
Joint Disease ◽  
Joint Involvement ◽  
Loss Of Function ◽  
Asymmetric Pattern ◽  
Bone Lysis ◽  
Characteristic Features ◽  
Hands And Feet ◽  
Arthritis Mutilans

The most dramatic and severe form of arthritis associated with psoriasis is arthritis mutilans (AM), which is a rare disorder, affecting very few patients with psoriasis. AM has a predilection for the small joints of the hands and feet. It is generally characterized by seronegative degenerative joint disease, leading to osteolytic changes in the carpal and digital bones. The bone and joint lesions rapidly and progressively cause bone lysis and joint ankylosis with loss of digits, soft-tissue deformities, telescoping of fingers and toes and the hallmark “la main en lorgnette” deformity (opera-glass hand). (1) Arthritis mutilans is characterized by an asymmetric pattern of peripheral joint involvement, with a predilection for the interphalangeal and metacarpophalangeal joints of the hand and small joints of the feet. (2) Characteristic features of AM are severe deformity of the hands, foreshortened fingers with excessive skin folds, hypermobile joints and digits that can be elongated by traction. (3) Radiologically, AM is characterized by severe resorption of the joint with an attendant loss of function, sometimes to a dramatic degree. (4) We present the case of a male patient who with psoriatic lesions onset from almost four decades, followed by involvement of hand and feet joint with important deformities. The treatment was difficult due to important comorbidities.

scholarly journals A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Cynthia Cherfane ◽  
Pauline Lee ◽  
Leana Guerin ◽  
Kyle Brown
Keyword(s):  
Heart Failure ◽  
Early Diagnosis ◽  
Young Patient ◽  
Hereditary Hemochromatosis ◽  
Late Presentation ◽  
Severe Form ◽  
Fatal Disease ◽  
Juvenile Hemochromatosis ◽  
History Of ◽  
Cardiac Manifestations

Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been investigated. The patient died of intractable heart failure two months after the initial presentation. Juvenile hemochromatosis should be suspected in a young patient with endocrine or cardiac manifestations. Early diagnosis is crucial since phlebotomy can improve the prognosis and delay or prevent progression to heart failure and cirrhosis.

scholarly journals PRSS56 is required for the developmental positioning of ocular angle structures

2018 ◽  
Author(s):  
Cassandre Labelle-Dumais ◽  
Nicholas G Tolman ◽  
Seyyedhassan Paylakhi ◽  
Simon WM John ◽  
K Saidas Nair
Keyword(s):  
Axial Length ◽  
Severe Form ◽  
Mutant Mice ◽  
Angle Closure ◽  
Chromosome 2 ◽  
Gene Encoding ◽  
Modifier Locus ◽  
High Prevalence ◽  
Characteristic Features ◽  
Length Reduction

AbstractAngle-closure glaucoma (ACG) is a severe form of glaucoma affecting up to 16 million people worldwide. In ACG, physical blockage of the ocular drainage tissue by the peripheral iris impedes the drainage of aqueous humor resulting in elevated intraocular pressure (IOP) and subsequent optic nerve damage. Despite the high prevalence of ACG, the precise mechanism(s) underlying pathogenesis are only partially understood. We have previously demonstrated that a mutation in the gene encoding the serine protease PRSS56 causes an ACG phenotype in mice. Notably, Prss56 mutant mice exhibit a reduced ocular axial length and a lens occupying a larger ocular volume compared to WT mice, recapitulating characteristic features of human AGC. Our findings utilizing mouse genetic models demonstrate that loss of PRSS56 function results in altered configuration of ocular angle structures characterized by a posterior shift in the positioning of the ocular drainage tissue relative to the ciliary body and iris during development, leading to a physical blockage of drainage structure (angle closure) and high IOP. Utilizing a previously employed genetic strategy of rescuing mutant Prss56 mediated reduction in ocular size by inactivation of EGR1 (Egr1;Prss56 double mutants) we determined the influence of ocular size on developmental positioning of the ocular angle tissues. Our findings suggest that abnormal positioning of the drainage structure as a result of loss of PRSS56 function is uncoupled from its effect on ocular axial length reduction. Furthermore, we demonstrate that the IOP elevation observed in Prss56 mutant mice is genetic context-dependent and identify a dominant modifier locus on Chromosome 2 of the C3H/HeJ genome conferring susceptibility to high IOP. Overall, our findings reveal a novel role for PRSS56 in the proper configuration of the iridocorneal angle and provide new insight into the developmental pathways implicated in glaucoma pathogenesis.

Pathologic Diagnosis, Origin, and Natural History of Pseudomyxoma Peritonei

2013 ◽  
pp. 221-225 ◽  
Author(s):  
Rebecca Buell-Gutbrod ◽  
Katja Gwin
Keyword(s):  
Peritoneal Cavity ◽  
Pseudomyxoma Peritonei ◽  
Abdominal Distension ◽  
Primary Tumors ◽  
Lower Quadrant ◽  
Radiologic Findings ◽  
Mucinous Neoplasms ◽  
Mucinous Epithelium ◽  
Characteristic Features ◽  
The Right

Mucinous ascites and pools of mucin within the peritoneal cavity associated with neoplastic, mucinous epithelium are the characteristic features of pseudomyxoma peritonei (PMP). Clinically, PMP presents with abdominal distension and gelatinous ascites. In female patients, pelvic masses can be seen. Radiologic findings on computed tomography include scalloping of the hepatic and splenic margins and dense ascites. Surgically, PMP is encountered as grossly visible mucin in the peritoneal cavity. The presence of mucin outside of the appendix, in the right lower quadrant, and beyond is an important diagnostic finding. The appendix may be distended or ruptured. In women, there is often bilateral surface involvement of the ovaries, raising the differential diagnosis of primary ovarian neoplasms; however, these are extremely rare causes of PMP. Because of the association between appendiceal lesions and metastatic mucinous neoplasms of the ovary, appendectomy in the setting of any mucinous peritoneal or ovarian process may be prudent, even if the appendix is grossly normal. The gastrointestinal tract, especially the hepatopancreato biliary system, also needs to be assessed by the surgeon. Pathologically, PMP arises almost exclusively from low- or high-grade mucinous neoplasms of the appendix. These neoplasms must be distinguished both from rare benign causes of mucinous ascites and from nonappendiceal primary tumors. PMP has a protracted clinical course with progressive fibrous adhesions and obstructive disease; aggressive surgical and cytoreductive therapy with hyperthermic intraperitoneal chemotherapy has been reported to improve clinical outcomes.

scholarly journals GAMBARAN PASIEN HIRSCHSPRUNG DI RSUP PROF. DR. R. D. KANDOU MANADO PERIODE JANUARI 2010 – SEPTEMBER 2014

e-CliniC ◽  
2015 ◽  
Vol 3 (1) ◽  
Author(s):  
Elfianto D. Corputty ◽  
Harsali F. Lampus ◽  
Alwin Monoarfa
Keyword(s):  
Barium Enema ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Abdominal Distension ◽  
Distal Intestine ◽  
Radiologic Evaluation ◽  
Functional Intestinal Obstruction ◽  
Duhamel Procedure ◽  
Intrinsic Component ◽  
Disease Present

Abstract: Hirschsprung disease is a developmental disorder of the intrinsic component of the enteric nervous system that is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine. Because these cells are responsible for normal peristalsis, patients with Hirschsprung disease present with functional intestinal obstruction at the level of aganglionosis. This researched purpose to know the description of Hirschsprung ddisease patient in RSUP Prof. Dr. R. D. Kandou Manado for period January 2010 to September 2014. The research method used was a descriptive retrospective. This study found 45 cases of Hirschsprung Disease. Males are more than females with ratio 1,3:1 with the age group are from 2 day to 45 years old. Most Hirscshprung disease patients came with the main complaints: abdominal distension, difficult to defecate and not defecation from birth, with the concomitant complaints, that is vomiting and abdominal pain. The most supporting examination of Hirscshprung disease is radiologic evaluation, that is plain abdominal x-ray and barium enema, and patologi anatomi evaluation, that is mucosal biopsy and suction biopsy. The most used surgery technique of Hirscsprung disease patients is colostomy and duhamel procedure. The most frequent complication of Hirschsprung disease is sepsis. The most outcome is improved clinical condition.Keywords: Hirschsprung disease, description of patientAbstrak: Penyakit Hirschsprung merupakan kelainan perkembangan komponen intrinsik pada sistem saraf enterik yang ditandai oleh absennya sel-sel ganglion pada pleksus myenterik dan submukosa di intestinal distal. Karena sel-sel ini bertanggung jawab untuk peristaltik normal, pasien-pasien penyakit Hirschprung akan mengalami obstruksi intestinal fungsional pada level aganglion. Tujuan Penelitian ini untuk mengetahui gambaran pasien Hirschsprung di RSUP Prof. Dr. R. D. Kandou Manado periode Januari 2010 sampai September 2014. Metode penelitian ini bersifat deskriptif retrospektif. Pada penelitian ini ditemukan 45 kasus penyakit Hirschsprung. Laki-laki lebih banyak dari perempuan dengan rasio 1,3:1 dengan umur mulai dari 2 hari sampai 45 tahun. Secara umum, pasien Hirschsprung datang dengan keluhan utama yaitu perut kembung, tidak BAB sejak lahir dan sulit BAB, disertai keluhan penyerta yaitu muntah atau nyeri perut. Secara umum pemeriksaan penunjang yang digunakan adalah pemeriksaan radiologi yaitu foto polos abdomen dan barium enema, dan pemeriksaan patologi anatomi yaitu biopsi eksisi dan biopsi hisap. Sebagian besar pasien Hirschsprung dilakukan tindakan bedah kolostomi dan duhamel. Komplikasi pada umumnya adalah sepsis. Hasil akhir penatalaksanaan pada umumnya cukup baikKata kunci: penyakit hirschsprung, gambaran pasien

scholarly journals Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: An Overview

2019 ◽  
Vol 3 (1) ◽  
pp. 01-03
Author(s):  
Mostafa Kotb ◽  
Marwa Beyaly
Keyword(s):  
Congenital Anomaly ◽  
Gastrointestinal Tract ◽  
Urinary Bladder ◽  
Severe Form ◽  
Rare Congenital Anomaly ◽  
Intestinal Peristalsis ◽  
Hypoperistalsis Syndrome

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital anomaly that is considered the most severe form of functional obstruction of the gastrointestinal tract. This devastating condition is composed of non-obstructed urinary bladder, microcolon with decreased or absent intestinal peristalsis. This study was designed to describe the incidence and outcome of MMIHS.

Sign in / Sign up

Export Citation Format

Share Document