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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Neurology

Major Medical Complications in MWS: Epilepsy, Hirschsprung Disease, and Structural Differences

At a Glance

The major medical complications of Mowat-Wilson Syndrome (MWS) involve the brain, digestive system, and structural organs. Children typically require proactive management for epilepsy, surgical and long-term care for Hirschsprung disease, and baseline screenings for heart, kidney, and eye differences.

While Mowat-Wilson Syndrome (MWS) affects many parts of the body, three main areas—the brain, the digestive system, and the heart/kidneys—often require specialized medical attention. Understanding these complications early allows you to work with your child’s team to screen for them and manage them effectively.

Neurological: Managing Epilepsy

Epilepsy is a core feature of MWS, affecting a significant majority of individuals [1].

  • Age and Types: Seizures often begin around age 2 [2]. The most common types are focal motor seizures (which start in one part of the brain and cause localized movement) and epileptic spasms [2][3]. Some children may also have seizures triggered by fevers [4].
  • The Importance of Sleep EEGs: Your doctor may recommend a sleep EEG (a test that records brain activity overnight). This is because many children with MWS develop a specific pattern called Electrical Status Epilepticus during Sleep (ESES) [5][6]. This pattern can sometimes cause a regression in your child’s behavior or motor skills, so finding it early is important [6].
  • Treatment and Action Plans: While some seizures can be drug-resistant (hard to control with medicine), medications like Valproate are often considered a first-line option [7][2]. If medications like Valproate are prescribed, your neurologist will likely require periodic blood tests to safely monitor your child’s liver function and blood counts. Most importantly, work with your neurologist to create a Seizure Action Plan and secure at-home rescue medications so you know exactly what to do in an emergency.

Gastrointestinal: Hirschsprung Disease and Constipation

Approximately half of children with MWS are born with Hirschsprung disease, a condition where the nerve cells are missing from the end of the bowel [8].

  • Surgical Needs: This condition usually requires surgery shortly after birth to bypass the affected part of the bowel [8].
  • Post-Surgery Care: Even after successful surgery, children with MWS are prone to severe, chronic constipation [9][10]. You will likely need to follow a strict daily bowel regimen, often including specific medications and dietary adjustments, guided by your GI doctor.
  • Risk of HAEC: They are also at a higher risk for Hirschsprung-associated enterocolitis (HAEC), a serious inflammation of the bowel [9][11]. Symptoms like abdominal bloating, fever, or foul-smelling diarrhea should be treated as a medical emergency [11].

Structural: Heart, Kidneys, and Eyes

Because the ZEB2 gene is a master regulator of development, it can lead to structural differences in other organs. Baseline screenings are typically recommended to identify these early.

  • Heart Defects: A well-known heart-related difference in MWS is a pulmonary artery sling (where a blood vessel from the heart wraps around the airway) [12]. Other, more common defects include septal defects (like a Ventricular Septal Defect or Atrial Septal Defect) and Patent Ductus Arteriosus (PDA) [12][13].
  • Genitourinary Differences: Many children, particularly boys, may have structural differences in the urinary tract or genitals, such as hypospadias (where the opening of the urethra is not at the tip of the penis) or undescended testes [14][15].
  • Eye Findings: The most common eye issues in MWS are strabismus (crossed or wandering eyes) and refractive errors (like needing glasses for astigmatism or nearsightedness). While rarer structural issues like cataracts or microphthalmia can occur, routine vision screening is primarily focused on these more common, treatable issues [16][17].

By conducting baseline heart, eye, and kidney scans, your medical team can ensure these systems are working well and address any structural differences before they cause complications [18][8].

Back to the Beginning

Common questions in this guide

What types of seizures are common in Mowat-Wilson Syndrome?
The most common types are focal motor seizures and epileptic spasms, which often begin around age two. Some children may also experience seizures triggered by fevers.
Why might my child with MWS need a sleep EEG?
A sleep EEG can detect a specific brain activity pattern called Electrical Status Epilepticus during Sleep (ESES). Identifying this early is important because ESES can cause a regression in your child's behavior or motor skills.
What are the warning signs of Hirschsprung-associated enterocolitis (HAEC)?
Symptoms of HAEC include abdominal bloating, fever, and foul-smelling diarrhea. These signs indicate a serious bowel inflammation and must be treated as a medical emergency.
Will my child still have constipation after Hirschsprung disease surgery?
Yes, even after successful surgery, children with MWS are highly prone to severe, chronic constipation. Your gastroenterologist will likely recommend a strict daily bowel regimen involving specific medications and dietary adjustments.
What structural differences should a child with MWS be screened for?
Children with MWS should undergo baseline scans of the heart, kidneys, and eyes. This helps identify structural issues early, such as pulmonary artery sling, septal defects, genitourinary differences, and strabismus.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given the high risk of epilepsy, what 'warning signs' or specific seizure behaviors should I be looking for?
  2. 2.Does my child need a sleep EEG to screen for Electrical Status Epilepticus during Sleep (ESES), and how often should this be repeated?
  3. 3.What is our emergency plan if my child develops signs of enterocolitis (HAEC), such as abdominal bloating or foul-smelling diarrhea?
  4. 4.What is our recommended daily bowel regimen to prevent severe constipation now that Hirschsprung surgery is complete?
  5. 5.If my child’s seizures become drug-resistant, what is our next step in terms of medication or specialist referral?
  6. 6.Can we confirm that baseline screenings for my child's heart (echocardiogram), eyes, and kidneys (ultrasound) have been completed?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

    Ricci E, Fetta A, Garavelli L, et al.

    Epilepsy & behavior : E&B 2021; (124()):108315 doi:10.1016/j.yebeh.2021.108315.

    PMID: 34619538
  2. 2

    [Clinical features of epilepsy in 5 children with Mowat-Wilson syndrome].

    Ju Y, Ji TY

    Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):578-582 doi:10.3760/cma.j.cn112140-20220316-00210.

    PMID: 35658366
  3. 3

    Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.

    Ju Y, Ji TY

    Epileptic disorders : international epilepsy journal with videotape 2026; (28(2)):344-358 doi:10.1002/epd2.70149.

    PMID: 41454799
  4. 4

    Mowat-Wilson syndrome presenting with fever-associated seizures.

    Seo SE, Kim SH, Lee ST, et al.

    Epileptic disorders : international epilepsy journal with videotape 2017; (19(4)):481-485 doi:10.1684/epd.2017.0949.

    PMID: 29258970
  5. 5

    Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.

    Di Pisa V, Provini F, Ubertiello S, et al.

    Sleep medicine 2019; (61()):44-51 doi:10.1016/j.sleep.2019.04.011.

    PMID: 31285160
  6. 6

    Electrical status epilepticus during sleep in Mowat-Wilson syndrome.

    Bonanni P, Negrin S, Volzone A, et al.

    Brain & development 2017; (39(9)):727-734 doi:10.1016/j.braindev.2017.04.013.

    PMID: 28501473
  7. 7

    Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.

    Nosaki Y, Ohyama K, Watanabe M, et al.

    Epilepsy & behavior reports 2020; (14()):100410 doi:10.1016/j.ebr.2020.100410.

    PMID: 33344924
  8. 8

    Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

    Dagorno C, Pio L, Capri Y, et al.

    Pediatric surgery international 2020; (36(11)):1309-1315 doi:10.1007/s00383-020-04751-8.

    PMID: 32980962
  9. 9

    Clinical Characteristics and Postoperative Functional Outcomes in Children With Mowat-Wilson Syndrome and Hirschsprung's Disease: A Single-center Study.

    Cheng T, Zhang Z, Zhou R, et al.

    Journal of pediatric surgery 2025; (60(4)):162217 doi:10.1016/j.jpedsurg.2025.162217.

    PMID: 39933472
  10. 10

    Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

    Fu Y, Xu W, Wang Q, et al.

    Frontiers in genetics 2022; (13()):853183 doi:10.3389/fgene.2022.853183.

    PMID: 35646055
  11. 11

    Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis.

    Zhang X, Sun D, Xu Q, et al.

    International journal of surgery (London, England) 2023; (109(8)):2509-2524 doi:10.1097/JS9.0000000000000473.

    PMID: 37288551
  12. 12

    Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.

    Cano Sierra JD, Mestra CF, Ronderos Dumit MA

    Cardiology in the young 2018; (28(8)):1074-1076 doi:10.1017/S1047951118000689.

    PMID: 29954473
  13. 13

    Mowat-Wilson syndrome in a Chinese population: A case series.

    Ho S, Luk HM, Chung BH, et al.

    American journal of medical genetics. Part A 2020; (182(6)):1336-1341 doi:10.1002/ajmg.a.61557.

    PMID: 32196960
  14. 14

    Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

    Kumar S, Fan X, Pattam H, et al.

    PLoS genetics 2026; (22(1)):e1012028 doi:10.1371/journal.pgen.1012028.

    PMID: 41576029
  15. 15

    ZEB2 signaling is essential for ureteral smooth muscle cell differentiation and maintenance.

    Kumar S, Fan X, Pattam H, et al.

    bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.02.23.639741.

    PMID: 40060690
  16. 16

    First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

    Tronina A, Świerczyńska M, Filipek E

    Medicina (Kaunas, Lithuania) 2023; (59(1)) doi:10.3390/medicina59010101.

    PMID: 36676725
  17. 17

    Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

    Evans CA, Pinner J, Chan CY, et al.

    American journal of medical genetics. Part A 2019; (179(10)):2152-2157 doi:10.1002/ajmg.a.61295.

    PMID: 31321886
  18. 18

    Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.

    Jiang Q, Zhang X, Ma Y, et al.

    Clinical case reports 2017; (5(1)):9-13 doi:10.1002/ccr3.741.

    PMID: 28096981

This page provides educational information about Mowat-Wilson Syndrome complications. It does not replace professional medical advice. Always consult your child's pediatric specialist team for medical decisions and emergency action plans.

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