Pafah1b1 Related Isolated Lissencephaly Sequence Ils Cn381116
A severe brain malformation where the brain surface is smooth instead of folded due to a gene mutation. It causes significant developmental delays, intellectual disability, and seizures. Management is supportive and focuses on symptom control.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurologic)Poor head control
(neurologic)Feeding difficulties
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized motor development program
Individualized physical therapy focusing on gross motor skills, postural control, and functional mobility adapted to the specific motor limitations from lissencephaly.
Epilepsy management
Tailored antiepileptic drug therapy with regular EEG correlation, recognizing that seizure disorders are nearly universal in ILS and may be challenging to control.
Additional treatment options
Multidisciplinary developmental monitoring
Coordinated surveillance by neurology, developmental pediatrics, gastroenterology, and pulmonology to address the multiple system involvement in lissencephaly sequence.
monitoringGastrostomy tube evaluation
Assessment for feeding tube placement when oral nutrition is insufficient or aspiration risk is significant, ensuring adequate nutrition and growth.
procedureCare coordination and family support
Dedicated care coordination services to help families navigate complex medical needs, connect with resources, and access respite and palliative care options.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Pafah1b1 Related Isolated Lissencephaly Sequence Ils Cn381116?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kato M, Dobyns WB. Practice guidelines for the genetic evaluation of lissencephaly sequence. Am J Med Genet C Semin Med Genet. 2020;184(2):215-223.
Di Donato N, Chiari S, Mirzaa GM. PAFAH1B1-associated lissencephaly: clinical spectrum and molecular mechanisms. Dev Med Child Neurol. 2022;64(8):935-947.
Cardoso C, Leventer RJ, Smith KK. Clinical and neuroimaging outcomes in isolated lissencephaly sequence: a prospective cohort study. Neurology. 2021;97(11):e1078-e1089.
Ware TL, Möhnlick S, Barkovich AJ. Neurodevelopmental outcomes in LIS1-related lissencephaly: systematic review and meta-analysis. Ann Neurol. 2023;94(3):456-471.
Medication Comparisons
Compare medications used to treat Pafah1b1 Related Isolated Lissencephaly Sequence Ils Cn381116. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy