Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

Area of Science:

• Genetics
• Neurology
• Developmental Biology

Background:

• 1p36 deletion syndrome is a genetic disorder associated with developmental delays and distinct facial features.
• Infantile spasms and polymicrogyria are severe neurological conditions impacting infant development.
• Early identification and diagnosis are crucial for managing genetic and neurological disorders.

Observation:

• A 3-month-old boy exhibited partial seizures evolving into infantile spasms.
• Brain MRI showed bilateral perisylvian polymicrogyria, more pronounced on the right.
• Genetic analysis revealed a 1p36 deletion (8.6Mb) due to a parental t(1;4) translocation.

Findings:

• Successful control of epilepsy and normalization of electroencephalograms were achieved with ACTH therapy.
• This case represents the first documented instance of concurrent infantile spasms and polymicrogyria in a patient with 1p36 deletion.
• The findings confirm a significant deletion on chromosome 1p36.

Implications:

• 1p36 deletion syndrome should be considered in the differential diagnosis of infants presenting with polymicrogyria.
• The study underscores the importance of genetic evaluation in infants with unexplained neurological symptoms like infantile spasms.
• This research expands the understanding of phenotypic variability within 1p36 deletion syndrome.