GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients
Neelu A Desai1, Vrajesh Udani2
1PD Hinduja Hospital & Medical Research Centre, Mahim, Mumbai, India neeludesai@hotmail.com.
Abstract:
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Antenatal diagnosis is possible if the index case is genetically confirmed. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy with mutations in the GPR56 gene are described.
Insights
Bilateral frontoparietal polymicrogyria, a brain malformation, is linked to GPR56 gene mutations. This condition presents with developmental delays and neurological issues, mimicking muscular dystrophy but without muscle disease.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Bilateral frontoparietal polymicrogyria (BFPP) is a rare autosomal recessive cortical malformation.
- It involves neuronal migration defects, white matter abnormalities, and mild brainstem/cerebellar issues.
- Clinical presentation includes developmental delay, intellectual disability, epilepsy, ataxia, and abnormal eye movements.
