Expert Reviewed By: Dr. Brandon Colby MD
Understanding Progressive Microcephaly
Progressive microcephaly is a rare neurological disorder characterized by a smaller-than-normal head size that continues to diminish as a child grows. This condition often leads to developmental delays, intellectual disability, and various other neurological problems. Progressive microcephaly can be caused by genetic mutations, infections, or other factors that affect a child's brain development. Recent studies have identified novel genetic variants associated with this disorder, shedding light on its underlying mechanisms and potential treatment options.
Diagnosing Progressive Microcephaly
Diagnosing progressive microcephaly involves a thorough evaluation of a child's medical history, physical examination, and imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans. These tests can help determine the size of the child's head, the structure of their brain, and any potential abnormalities. In some cases, genetic testing may be recommended to identify the specific cause of the condition and guide treatment decisions.
Genetic Testing for Progressive Microcephaly
Genetic testing can provide valuable information about the underlying cause of progressive microcephaly and help guide treatment and management decisions. By identifying specific genetic mutations, doctors can better understand the disorder's nature and develop personalized treatment plans for affected individuals.
Identifying Novel Genetic Variants
Recent studies have identified novel genetic variants associated with progressive microcephaly. In one study, two Pakistani siblings with global developmental delay, spastic quadriplegia, microcephaly, and infantile spasm were found to have novel compound heterozygous variants in the SLC1A4 gene (source). Another study identified a novel homozygous variant (c.573T>G) in the SLC1A4 gene in two Pakistani siblings with severe global developmental delay, progressive microcephaly, and seizure disorder (source). These findings highlight the importance of genetic testing in diagnosing progressive microcephaly and understanding its underlying mechanisms.
Genetic Testing in the Context of Infectious Diseases
During the Zika virus outbreak, microcephaly became a significant concern due to its association with the virus. However, a retrospective study in Argentina found that non-infectious diseases were the primary cause of isolated microcephaly during the outbreak (source). This finding underscores the importance of considering genetic factors when diagnosing microcephaly, even in the context of infectious diseases.
Using Genetic Testing to Guide Treatment and Management
Genetic testing can help identify the specific cause of progressive microcephaly and guide treatment decisions. For example, a case report described a child with progressive multifocal leukoencephalopathy, a rare neurological disorder, as the initial presentation in an apparently healthy child (source). By identifying the underlying genetic cause, doctors can develop personalized treatment plans that target the specific genetic mutation or related pathways.
Conclusion
Progressive microcephaly is a complex neurological disorder with various potential causes, including genetic mutations. Genetic testing can provide valuable information about the underlying cause of the condition and help guide treatment and management decisions. As researchers continue to identify novel genetic variants associated with progressive microcephaly, genetic testing will become an increasingly important tool in diagnosing and treating this rare disorder.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)