17p13.1 Deletion Syndrome (Miller-Dieker Syndrome) / Miller-Dieker Lissencephaly Syndrome (MDLS) (Loss)

1. Causes of the disease

Miller-Dieker syndrome (MDS) and Miller-Dieker lissencephaly syndrome (MDLS) are caused by a genetic deletion in the short arm of chromosome 17 (17p13.1 region). This causes the brain to develop abnormally, resulting in an abnormality of the cerebral cortex called lissencephaly. Normally, nerve cells are not positioned correctly during brain formation, severely affecting neurodevelopment and function.

2. Symptoms

• Lissencephaly : The brain has a smooth surface with few normal grooves and turns, resulting in severe intellectual disability.
• Developmental delay : There is significant delay in motor and language development.
• Epileptic seizures : Severe epileptic seizures may occur frequently from the newborn period.
• Distinctive facial features : Distinctive facial features may be present, including a high forehead, long narrow face, short nose, and thin lips.
• Muscle weakness and abnormal muscle tone may be present.
• Internal organ abnormalities : Cardiac and renal abnormalities have been reported in some patients.

3. Treatment

• Epilepsy management : Treatment involves the use of antiepileptic drugs to reduce the frequency of seizures.
• Developmental support : Development is supported through physical therapy, occupational therapy, speech therapy, etc., but the effectiveness of the therapy may vary depending on the level of progression.
• Nutritional management : Feeding difficulties may be present and nutritional management may be required.
• Comprehensive medical team management : We provide care in collaboration with doctors from multiple specialties, including neurology, cardiology, and gastroenterology.

4. Prognosis

Miller-Dieker syndrome is a severe disease with a poor prognosis for most people. It requires ongoing management of epilepsy seizures and treatment of systemic complications, which can impact on the lifespan of patients. It is usually accompanied by severe intellectual disability and physical problems.

5. The burden on parents

This disease requires long-term treatment and care, and it places a huge financial and mental burden on the parents. Because parents have to spend a lot of time caring for their children on a daily basis, it requires a support system for the whole family. It is important to cooperate with medical teams and support organizations to reduce the burden on families.