complex cortical dysplasia with other brain malformations 1

Complex cortical dysplasia with other brain malformations 1 is a neurological condition resulting from a mutation in the TUBB3 gene. This disorder affects brain development, leading to a spectrum of structural brain anomalies and associated neurodevelopmental challenges. It is inherited in an autosomal dominant pattern and is extremely rare, affecting fewer than 1 in 1,000,000 people. Affected individuals typically present in early childhood with developmental delays and other neurological features.

The clinical presentation is predominantly neurological. All affected individuals present with delayed speech and language development and intellectual disability, which underscores the cognitive challenges inherent to this condition. In addition, there is a high frequency of strabismus, and many individuals show signs of fusion of the caudate and putamen, hypoplasia of the brainstem, and axial hypotonia. Other brain malformations such as hypoplasia or agenesis of the corpus callosum, simplified gyral pattern, a thin corpus callosum, and frontal polymicrogyria are observed, with some individuals also experiencing nystagmus, microcephaly, seizures, and spasticity. Not all individuals experience all features, and severity varies considerably.

This condition is caused by mutations in the TUBB3 gene, which plays a critical role in the formation of the microtubule network essential for neuronal migration and axon guidance. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene is sufficient to cause the disorder. Given the genetic nature of the condition, genetic counseling is recommended for families to understand the implications for family planning and recurrence risk.

Currently, management focuses on supportive care and symptom management since there are no treatments specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team approach to address the range of neurodevelopmental challenges and associated complications. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Genetic counseling is recommended to help families understand the condition and discuss available support options.

The overall prognosis for individuals with complex cortical dysplasia with other brain malformations 1 is variable, with outcomes depending on the severity of brain malformations and associated neurological impairments. With current standards of care, many affected individuals experience improvements in quality of life as treatments and supportive services continue to evolve. Outcomes described in medical literature continue to evolve as standards of care improve, and connecting with a genetic counselor and specialist teams can provide families with personalized guidance for managing this lifelong condition. Severity and symptoms vary widely between individuals.