Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome, sometimes called PMSE syndrome or Pretzel syndrome, is a rare brain disorder that affects children from birth. The name describes three of its main features: polyhydramnios (too much fluid around the baby during pregnancy), megalencephaly (an unusually large brain), and epilepsy (recurring seizures that are hard to control). The condition is caused by changes in a gene called STE20-related kinase adaptor alpha (STRADA), which plays an important role in how brain cells grow and develop. When this gene does not work properly, brain cells grow too much and in the wrong way, leading to the features seen in this syndrome. Children with PMSE syndrome typically have a very large head, severe intellectual disability, and seizures that begin in infancy and are often difficult to treat with standard medications. Many children also have low muscle tone (hypotonia), making it hard to sit, stand, or walk. Some children may have breathing problems or feeding difficulties in early life. The syndrome was first described in the Old Order Mennonite community in North America, where it is more commonly found due to a founder effect. There is currently no cure for PMSE syndrome. Treatment focuses on managing seizures with anti-epileptic medications and supporting development through physical, occupational, and speech therapy. Some research has explored targeted treatments based on the biology of the STRADA gene pathway, but these remain experimental. Families and caregivers play a central role in supporting children with this condition throughout their lives.

Bring these to your next appointment

• Q1.Which anti-epileptic medications are most likely to help my child, and what are the side effects?,Is my child a candidate for any clinical trials or experimental treatments like rapamycin?,What therapies (physical, occupational, speech) should my child start, and how often?,Should other family members be tested as carriers of the STRADA gene change?,What should I do if my child has a prolonged seizure at home?,Are there any specialists or centers with specific experience treating PMSE syndrome?,What support services and resources are available for our family?

Common questions about Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

Related conditions

Other rare diseases commonly researched alongside Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome.

• Hemimegalencephaly→
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