Fetal megacystis: a lot more than LUTO.

OBJECTIVE: Fetal megacystis presents a challenge in terms of counseling and management because of its varied etiology and evolution. The aim of this study was to present a comprehensive overview of the underlying etiologies and structural anomalies associated with fetal megacystis. METHODS: This was a retrospective multicenter study of cases referred to the fetal medicine unit of one of the eight academic hospitals in The Netherlands with a diagnosis of fetal megacystis. For each case, data on and measurements of fetal urinary tract and associated structural anomalies were collected. All available postmortem examinations and postnatal investigations were reviewed in order to establish the final diagnosis. In the first trimester, fetal megacystis was defined as longitudinal bladder diameter (LBD) ≥ 7 mm, and in the second and third trimesters as an enlarged bladder failing to empty during an extended ultrasound examination lasting at least 40 min. RESULTS: Of the 541 pregnancies with fetal megacystis, it was isolated (or solely accompanied by other signs of lower urinary tract obstruction (LUTO)) in 360 (67%) cases and associated with other abnormal ultrasound findings in 181 (33%) cases. The most common associated ultrasound anomaly was an increased nuchal translucency thickness (22%), followed by single umbilical artery (10%) and cardiac defect (10%). A final diagnosis was established in 418 cases, including 222 (53%) cases with isolated LUTO and 60 (14%) infants with normal micturition or minor isolated urological anomalies. In the remaining 136 (33%) cases, concomitant developmental or chromosomal abnormality or genetic syndrome was diagnosed. Overall, 40 chromosomal abnormalities were diagnosed, including trisomy 18 (n = 24), trisomy 21 (n = 5), Turner syndrome (n = 5), trisomy 13 (n = 3) and 22q11 deletion (n = 3). Thirty-two cases presented with anorectal malformations involving the anus, rectum and urogenital tract. In cases with confirmed urethral and anal atresia, megacystis occurred early in pregnancy and the bladder appeared severely distended (the LBD (in mm) was equal to or greater than twice the gestational age (in weeks)). Fetal macrosomia was detected in six cases and an overgrowth syndrome was detected in four cases, comprising two infants with Beckwith-Wiedemann syndrome and two with Sotos syndrome. Megacystis-microcolon-intestinal hypoperistalsis syndrome was diagnosed in five (1%) cases and prenatally suspected only in one case. CONCLUSIONS: Although the main cause of fetal megacystis is LUTO, an enlarged fetal bladder can also be present as a concomitant finding of miscellaneous genetic syndromes, developmental disturbances and chromosomal abnormalities. We provide an overview of the structural anomalies and congenital disorders associated with fetal megacystis and propose a practical guide for the differential diagnosis of genetic syndromes and chromosomal and developmental abnormalities in pregnancies presenting with fetal megacystis, focusing on the morphological examination of the fetus. © 2018 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

[A case report of chronic intestinal pseudo-obstruction with autoimmune autonomic ganglionopathy suspected from seropositive results for anti-ganglionic acetylcholine receptor antibody].

A 37-year-old woman who had previously been diagnosed with idiopathic chronic intestinal pseudo-obstruction (CIPO) at another hospital was admitted to our institution with severe abdominal pain. She had a history of several abdominal surgeries to treat ileus at the previous hospital, and contrast-enhanced computed tomography on admission revealed subileus without any apparent causes of obstruction. Total parenteral nutrition, a gastrointestinal prokinetic agent, and opiates reduced persistent pain;however, breakthrough pain continued. A neurologist at our hospital suggested autoimmune autonomic ganglionopathy (AAG) as a potential cause of CIPO. The patient was diagnosed with suspected AAG on the basis of seropositive results for anti-ganglionic acetylcholine receptor antibody. Intravenous immunoglobulin administration and plasma exchange were performed in combination with immunosuppressive drugs;however, her symptoms barely improved. Although percutaneous endoscopic gastrostomy and enterostomy were subsequently performed to reduce internal intestinal pressure, her pain relief was insufficient.

Effect of the herbal medicine dai-kenchu-to on gastrointestinal motility in patients with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and chronic idiopathic intestinal pseudo-obstruction (CIIP): report of two cases.

Dai-kenchu-to (DKT), a traditional Japanese herbal medicine (Kampo medicine), composed of zanthoxylum fruit, ginseng root, dried ginger rhizome and malt sugar, is clinically effective for postoperative ileus and chronic constipation. MMIHS and CIIP are severe motility disorder associated with high morbidity. The aim of this study was to evaluate the effect of DKT on functional intestinal obstruction. DKT was clinically effective for gastrointestinal motility in a case with MMIHS, but not effective in one with CIIP. MMIHS and CIIP are speculated to have different pathogenesis regarding gastrointestinal pseudo-obstruction based upon the effect of this drug.

Congenital visceral myopathy with a predominantly hypertrophic pattern treated by multivisceral transplantation.

Chronic intestinal pseudoobstruction due to visceral myopathy may cause intestinal failure. The anatomical pathology of visceral myopathy is dominated by an atrophic muscularis propria. We present a case that is overwhelmingly dominated by a hypertrophic muscularis propria. The hypertrophic pattern was documented from ages 2 to 28 years. Most descriptions of visceral myopathy focus on the atrophic pattern of injury to the muscularis propria, typified by vacuolar degeneration of myocytes, loss of muscle fibers, and frequently with a honeycomb pattern of fibrosis. Hypertrophic changes can be observed in visceral myopathy, but the hypertrophy typically represents only a minor feature, typically limited to the internal layer of the muscularis propria. In our patient, the observed muscular hypertrophy differed from most descriptions because it (a) was the dominant pattern of injury and (b) involved both layers of muscularis propria rather than just the inner circular layer. The patient had intestinal failure and the complications induced cirrhosis, eventually treated by multivisceral transplantation to correct the intestinal failure and cirrhosis.

Prenatal diagnosis of intestinal pseudo-obstruction.

The appearance of polyhydramnios and dilated bowel loops on prenatal sonographic examination usually implies mechanical obstruction. The prognosis is variable, depending on the etiology. Congenital pseudo-obstruction, a potentially lethal disease, comprises a group of disorders characterized by intestinal obstruction in the absence of an anatomic lesion. This report focuses on the prenatal diagnosis of intestinal pseudo-obstruction, and two cases of transient congenital intestinal pseudo-obstruction in one family are described. In both, the prenatal sonographic presentation was of small bowel obstruction. In one case there was postnatal suspicion of neurogenic bladder, and in the other there was unilateral hydronephrosis. The sonographic appearance of intestinal pseudo-obstruction is similar to that of mechanical obstruction. The clues to the prenatal diagnosis of pseudo-obstruction include associated urinary tract abnormalities and a family history of pseudo-obstruction.

Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius.

We present the first report of an association between hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) and a specific form of congenital idiopathic intestinal pseudo-obstruction (CIIP) in an infant. Diagnosis of HSAS was suspected during the neonatal period because of a severely dilated ventricular system associated with bilateral adducted thumbs, and was confirmed by demonstration of a mutation in the gene encoding L1 cell adhesion molecule (L1CAM). L1CAM mutations cause a variable clinical spectrum. This gene is located at Xq28 and encodes a transmembrane glycoprotein involved in neurite outgrowth and neuronal migration. Hirschprung disease has been reported to involve an L1CAM mutation that manifests as a quantitative defect in the migration of neural crest cells in distal segments of the gut. We report an association that suggests that alterations of L1CAM may cause another type of intestinal pseudo-obstruction distension with a qualitative defect in differentiated Cajal's cells in the anterior part of the gut. This observation suggests that L1CAM has a role in the developmental regulation of multiple systems. Further clinical descriptions of gastroenterological and neuropathological data are required to extend our understanding of the mechanisms underlying L1CAM functions.

Quality of life outcomes in congenital chronic intestinal pseudo-obstruction.

The goal of this study was to assess the quality of life for children with chronic intestinal pseudoobstruction. We used a retrospective chart review to identify children with congenital chronic intestinal pseudoobstruction, then a structured telephone interview with parents that included the Child Health Questionnaire to gather information about the current status and quality of life for each patient and family. Children with chronic intestinal pseudo-obstruction had less freedom from pain, depression, and anxiety than healthy children or children with juvenile rheumatoid arthritis (P < 0.05 for all three parameters). Parents of children with chronic intestinal pseudo-obstruction had poorer emotional status than parents of healthy children or children with juvenile rheumatoid arthritis. The time required for parents to care for children with chronic intestinal pseudo-obstruction was greater than the time required to care for healthy children or children with juvenile rheumatoid arthritis (P < 0.01). In conclusion, the quality of life for children with chronic intestinal pseudo-obstruction lags behind that of healthy children and children with another chronic illness. Appropriate treatment of chronic pain may improve the quality of life for children with chronic intestinal pseudo-obstruction and their families. Moreover, attention to reducing each family's burden of time and emotional distress may help them cope better with their chronically ill child.

Urological manifestations associated with chronic intestinal pseudo-obstructions in children.

PURPOSE: Chronic intestinal pseudo-obstruction syndrome is a rare pathological condition characterized by chronic intestinal occlusion without any anatomical or mechanical lesion. Recent progress in the treatment of these children has led to improved survival and development of associated urological complications. We define urological manifestations of chronic intestinal pseudo-obstruction to optimize evaluation and treatment. MATERIALS AND METHODS: We evaluated retrospectively the charts of 20 girls and 19 boys with a mean age of 11.2 years (range 3 days to 26 years) diagnosed with chronic intestinal pseudo-obstruction from January 1975 to February 2000. Urological evaluation included prenatal and postpartum ultrasonography, serum renal function assessment, voiding cystourethrography and urodynamics. RESULTS: Urological involvement was present in 27 of the 39 children (69%). Megacystis in 26 children (96.3%) was isolated in 12 (46.2%) and associated with ureterohydronephrosis in 14 (53.8%), including 4 with vesicoureteral reflux. One patient presented with a complex urinary anomaly. Prenatal diagnosis of megacystis was made in 16 patients (59%), including 4 with neonatal urinary retention and 12 with urinary tract infection. At followup 24 patients had 1 or greater febrile urinary tract infections while 3 had afebrile infections. In the 14 patients with megacystis and ureterohydronephrosis, 3 or greater febrile urinary tract infections developed while 10 patients with isolated megacystis had only 1 febrile urinary tract infection. Twelve patients underwent 17 urodynamic studies, all of whom initially presented with hypocontractile detrusor, increased age corrected capacity (194% +/- 44%) and compliance (42 ml./cm. H O, range 13 to 214). Bladder proprioception was also diminished. Presently voiding is achieved by abdominal pressure in 14 cases and intermittent catheterization in 10. Antibioprophylaxis was given to 17 patients, at one point in time. Renal failure (1 iatrogenic, 1 complex anomaly) developed in 2 patients. CONCLUSIONS: The presence of megacystis on prenatal ultrasound should alert the physician to the possibility of chronic intestinal pseudo-obstruction. Bladder adynamia represents the dominant urological complication. Urological evaluation and management are required to ensure adequate bladder emptying to reduce the risk of urinary tract infection and preserve long-term renal function.

Chronic intestinal pseudo-obstruction: pediatric case presentations and review of the literature.

ISSUES AND PURPOSE: Chronic intestinal pseudo-obstruction (CIP) is a rare condition characterized by small bowel dysmotility. Its effects are severe and disabling in pediatric clients. The purpose of this article is to provide an overview of CIP and summarize information useful to pediatric nurses. CONCLUSION: Nursing management of the pediatric client with CIP is challenging, not only in terms of direct care provided to the child, but also in ongoing support and education of the child and family. PRACTICE IMPLICATIONS: Nurses practicing in either inpatient or outpatient settings may encounter children and families dealing with this disorder. Nurses are in a key position to educate others and influence the outcomes of care provided to children with CIP and their families.

[Fetal megacystis with idiopathic intestinal pseudo-obstruction syndrome: a case report].

A 2,510 g female newborn was delivered by Cesarean section at 33 weeks gestation due to increasing volume of her huge bladder and bilateral hydronephrosis. Just after birth 190 ml of urine was drainaged by catheterization without difficulty. Voiding cystourethrography showed no VUR. She had no ureteral dilation, either. Urodynamic study revealed large bladder capacity and detrusor hypocontractility. Neither neurological nor gastrointestinal abnormality was detected neonatally. Clean intermitted catheterization was performed every 4 hours. At 12 months of her age she had no history of urinary tract infection. However, as she grew up with normal diet, severe constipation became apparent. This is a case of idiopathic intestinal pseudo-obstruction syndrome whose gastrointestinal symptom was masked in the newborn period. Attention should be paid for gastrointestinal tract as well as urinary tract when the body has congenital megacystis with unknown etiology.

Chronic intestinal pseudo-obstruction syndrome in pediatric patients.

The aim of this study was to report the presentation and outcome of 22 consecutive children (13 female) who presented with a syndrome of chronic intestinal pseudo-obstruction with or without urinary tract involvement. We analyse the main clinical and histopathological features and discuss therapeutic management. Ten patients had signs of intestinal obstruction at birth, in which 6 presented antenatally with megacystis on ultrasound. Six children presented with constipation and/or obstruction between 1 and 6 months of age and in 6 other patients diagnosis was made between the ages of 1 and 12 years. There was a family history in 4 patients. Investigations showed diffusely dilated gut on x-ray with slow transit on small bowel follow through. Absent or abnormal motor migrating complex with low amplitude contractions were demonstrated on duodeno-jejunal manometry in 12/13. Megacystis occurred in 15/21 and megaureter in 2/21. Full thickness biopsies (n = 22) revealed involvement of muscle layers in 8, and abnormal myenteric plexus on histochemistry in 13. In 1, the biopsies were inconclusive. Recurrent urinary tract infections occurred in all with structural urinary tract abnormality and most had bacterial overgrowth. Severe recurrent episodes of obstruction which required parenteral nutrition (PN) occurred in all patients. Drugs were unhelpful and decompression ileostomies or colostomies were performed in 20/22. Five children died from sepsis (n = 3) or sudden death. Eleven patients remain partially or totally dependent on PN despite decompression ileostomy in 10/11. Six patients underwent colectomy and ileorectal pull-through, 2 of which remain on long-term PN, while the others are totally orally fed. Despite careful histological study pointing to 2 main forms, myopathy and neuropathy, the etiology of primary intestinal pseudoobstruction syndromes remains unknown. It may present antenatally while most of the time the gut and the urinary tract are diffusely involved. The condition has a high morbidity with a percentage requiring long-term PN. Although the mortality rate is high (23%), careful treatment of urinary tract infections and bacterial overgrowth, decompression surgery and judicious use of PN allows survival to adult life.

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

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.

Segmental dilatation of the jejunum.

A 6 months old girl with segmental dilatation of the jejunum is described. Clinical findings were intermittent colic, severe pain and bilious vomiting, mimicking intussusception. At laparatomy dilated jejunal segment was encountered and resection performed. Histological examination showed normal ganglion cells with normal bowel structures. Postoperative course was uneventful.

Neonatal-onset chronic intestinal pseudo-obstruction syndrome.

Between January 1985 and January 1990, six cases of neonatal-onset chronic intestinal pseudo-obstruction syndrome (CIPS) were identified. Failure to gain weight in six cases, abdominal distention in five, and vomiting in five were the most common presenting symptoms. The contrast studies of the gastrointestinal tract demonstrated delayed transit time in 6/6, jejunal or ileal dilatation in 1/6, megaduodenum in 1/6, dilatation of the colon with barium retention in 4/6, and microcolon in 1/6. Urinary tract involvement was noted in three patients. Laparotomy, performed in three patients, revealed no mechanical obstruction. Except for hypoganglionosis in Patient 4, no recognizable neuropathy or myopathy was noted histopathologically. Four patients expired within 2 months after discharge. We conclude that CIPS with neonatal onset should be suspected when infants have urinary retention and abdominal distention or constipation beginning at birth or soon after. The prognosis of CIPS presenting in the newborn period appears worse than that presenting in childhood or adulthood.

Clinical, laboratory and prognostic features of congenital large intestinal motor dysfunction (pseudo-Hirschsprung's disease).

One hundred and forty-eight cases of congenital large intestinal motor dysfunction (pseudo-Hirschsprung's disease) were reported by members of the Japanese Society of Pediatric Surgeons during the past 20 years. The disorder was defined as a congenital, non-mechanical obstruction of the intestine with the presence of intramural ganglia in the terminal rectum. Intramural ganglia were abnormal in 77 cases, normal in 42, and could not be determined in 29. Of those with abnormal intramural ganglia, 54 had immature ganglia or hypoganglionosis (oligoganglionosis), 15 had neuronal intestinal dysplasia, and eight had a segmental anomaly. Of those with a normal myenteric plexus, 22 had chronic and twelve had suspected idiopathic intestinal pseudo-obstruction syndrome; eight had megacystis-microcolon-intestinal hypoperistalsis syndrome. While cases with both hypoganglionosis and normal intramural ganglia had normal acetylcholine esterase activity, a significantly greater number of patients with hypoganglionosis lacked normal rectoanal reflexes. Patients with hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction syndrome, and megalocystis-microcolon-intestinal hypoperistalsis syndrome had poor prognoses with an overall mortality of 36.9%. These findings indicate that congenital large intestinal motor dysfunction remains a serious disease of childhood.

Segmental dilatation of intestine: a case report and review of the literature.

Segmental dilatation of intestine (SDI) is a rare disorder that leads to functional obstruction without stenosis and normally functioning ganglion cells. The etiology of the disease is unknown. Definitive treatment consists of segmental resection of the dilated segment with end-to-end anastomosis.