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Related Experiment Video

Updated: Jul 16, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

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Autosomal recessive type I lissencephaly.

Ajay Garg¹, M R Sridhar, Sheffali Gulati

¹Department of Neuroradiology, All India Institute of Medical Science, Ansari Nagar, New Delhi, India.

Indian Journal of Pediatrics

|March 6, 2007

Summary

Lissencephaly (LIS) is a brain malformation. This study reports a familial LIS syndrome, suggesting autosomal recessive inheritance but not ruling out germ cell mosaicism.

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Lissencephaly (LIS) is a severe brain malformation characterized by a smooth cerebral surface and incomplete neuronal migration.
It is often misdiagnosed as cerebral palsy and presents a diagnostic challenge, especially in familial cases.

Observation:

This report details a familial syndrome of lissencephaly.
The condition occurred in siblings within the same family, indicating a potential hereditary component.

Findings:

Recurrence in siblings suggests autosomal recessive inheritance for this lissencephaly syndrome.
Germ cell mosaicism for a dominant mutation remains a possibility.

Implications:

Understanding the genetic basis of familial lissencephaly is crucial for accurate diagnosis and genetic counseling.

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Distinguishing LIS from cerebral palsy is vital for appropriate patient management and intervention.