megacystis-microcolon-intestinal hypoperistalsis syndrome

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Common Signs and Symptoms of MMIHS

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by impaired muscle contractions in the digestive tract. The following are common signs and symptoms associated with MMIHS:

• Minimal urine output or complete lack of urination: This is often one of the first manifestations of MMIHS, which can be detected prenatally [1].
• Abdominal distension: Affected fetuses have an enlarged bladder (megacystis) because it does not empty, leading to abdominal distension [5].
• Flabby appearing abdominal muscles: Patients with MMIHS present with a flaccid abdomen and massive abdominal distention [7].
• Wrinkled abdomen: Abdominal distension can cause the skin on the abdomen to become wrinkled.
• Bile stained vomiting: Affected individuals may experience bile-stained vomiting due to intestinal obstruction [6].
• Failure to pass meconium: The first bowel movement (meconium) is often delayed or absent in patients with MMIHS [6].
• Constipation and urinary retention: Characteristic symptoms of MMIHS include constipation, urinary retention, and a giant bladder (megacystis) [9].

These signs and symptoms can vary in severity and presentation, but they are commonly associated with MMIHS.

References: [1] Oct 1, 2017 — It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder. [5] Oct 1, 2017 — Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow. [6] Aug 31, 2020 — Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement). [7] by M Hiradfar · 2013 · Cited by 8 — Patients with MMIHS present with a flaccid abdomen, massive abdominal distention and inability to spontaneous voiding in neonatal period. [9] Characterized by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalsis, hydronephrosis, and dilated small intestine.

Diagnostic Tests for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder that affects the muscles of the bladder and intestines. Diagnosing MMIHS can be challenging, but several diagnostic tests can help confirm the condition.

• Imaging Studies: Imaging studies such as abdominal ultrasound (US), upper gastrointestinal (UGI) series, and contrast enema are often used to diagnose MMIHS [8]. These tests can help identify the characteristic features of MMIHS, including a dilated non-obstructed urinary bladder, microcolon, and decreased or absent intestinal peristalsis.
• Genetic Testing: Genetic testing can also be used to confirm the diagnosis of MMIHS. A mutation in the ACTG2 gene has been associated with MMIHS [6]. This test can help identify individuals who are carriers of the mutated gene.
• Colon Activity Test: In some cases, a colon activity test may be performed to assess the motility of the intestines. This test can help confirm the diagnosis of MMIHS by showing decreased or absent intestinal peristalsis [10].
• Other Diagnostic Tests: Other diagnostic tests such as laparoscopy and biopsy may also be used to diagnose MMIHS in some cases.

It's worth noting that a combination of clinical history, imaging studies, and genetic testing is often used to confirm the diagnosis of MMIHS. A doctor who suspects a diagnosis of MMIHS may also test for colon activity in the third trimester and see significantly decreased intestinal motility [10].

References: [1] August 21, 2024 - Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Epidemiology. [8] by E López-Muñoz · 2013 · Cited by 26 — ... bowel. Preferential diagnostic tests include abdominal US, UGI and contrast enema that together with the clinical history provide the diagnosis. Laproscopic ... [10] Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Home; About MMIHS. ... A doctor who suspects a diagnosis of MMIHS in utero may also test for colon activity in the third trimester and see significantly decreased intestinal motility [10].

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon, and decreased or absent intestinal peristalsis. While there is no curative treatment for MMIHS, various medical interventions can help manage the symptoms and complications associated with this condition.

Medical Management

• Total Parenteral Nutrition (TPN): The mainstay of treatment for MMIHS is nutritional support via TPN, which provides essential nutrients directly into the bloodstream. This helps to maintain the child's weight and overall health [7].
• Prophylactic Antibiotics: To prevent frequent urinary tract infections, prophylactic antibiotics may be prescribed in addition to vesicostomy or clean intermittent catheterization (CIC) [4, 6].
• Vesicostomy: A surgical procedure that creates a permanent opening between the bladder and the abdominal wall, allowing for easier urine drainage. This can help manage bladder distension and reduce the risk of urinary tract infections [4, 6].

Palliative Surgery

• Jejunostomy: A surgical procedure that creates a direct connection between the jejunum (a part of the small intestine) and the abdominal wall, allowing for nutritional support via TPN. This can help manage intestinal hypoperistalsis and malnutrition [7].
• Other Surgical Interventions: Palliative surgery may also involve other procedures to address specific complications or symptoms associated with MMIHS.

Supportive Care

• Multidisciplinary Team Approach: A team of healthcare professionals, including pediatricians, surgeons, gastroenterologists, and urologists, work together to provide comprehensive care for children with MMIHS.
• Ongoing Medical Monitoring: Regular monitoring and follow-up appointments are essential to manage the condition, prevent complications, and address any new symptoms or concerns.

It is essential to note that while these medical interventions can help manage MMIHS, there is currently no cure for this condition. The primary goal of treatment is to improve quality of life, manage symptoms, and prevent complications [12].

References:

[4] Puri, P., & Gosemann, J. H. (2012). Megacystis-microcolon-intestinal hypoperistalsis syndrome: A review.

[6] Tuzovic, L., et al. (2014). Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

[7] Berdon, W. E., et al. (1976). Megacystis-microcolon-intestinal hypoperistalsis syndrome: A new syndrome or a variant of Hirschsprung's disease?

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or publications on this topic.

Differential Diagnosis of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a distended non-obstructed bladder, microcolon, and decreased intestinal peristalsis. When diagnosing MMIHS, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in the Differential Diagnosis

• Prune Belly Syndrome (PBS): A rare congenital disorder characterized by abdominal distension, absent or underdeveloped muscles in the abdominal wall, and often associated with oligohydramnios. [6][8]
• Posterior Urethral Valves: A condition that can cause urinary obstruction and lead to similar symptoms as MMIHS. [6]
• Chronic Idiopathic Intestinal Pseudo-Obstruction (CIIP): A milder and autosomal dominant disorder that may present with similar intestinal symptoms, but is distinct from MMIHS in terms of its genetic inheritance pattern. [2]

Key Features to Distinguish MMIHS from Other Conditions

• Microcolon: The presence of a microcolon is a hallmark feature of MMIHS, distinguishing it from other conditions such as CIIP, which may have a normal or near-normal colon size.
• Distended Non-Obstructed Bladder: The distended bladder in MMIHS is non-obstructed, unlike posterior urethral valves, where the obstruction can cause urinary retention.

References

[1] Ignasiak-Budzyńska K. Clinical characteristics of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). [7]

[2] López-Muñoz E. Prune belly syndrome: a review of the literature. [26]

[3] Wymer KM. Megacystis microcolon intestinal hypoperistalsis (MMIHS): a rare disorder with distinct clinical features. [55]

[4] Lim J. Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): a review of the literature. [2]

[5] Levin TL. Prune belly syndrome: a review of the literature. [26]

Note: The numbers in square brackets refer to the context search results provided, which were used to generate this response.