Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Area of Science:

• Medical Genetics
• Pediatric Radiology
• Neurology

Background:

• Genetic skeletal disorders (GSDs) are a diverse group of conditions affecting bone and cartilage development.
• A significant subset of GSDs involves extra-skeletal structures, notably the central nervous system (CNS).
• CNS involvement significantly impacts the long-term prognosis for affected children and requires careful evaluation.

Purpose of the Study:

• To provide a pattern-recognition approach for identifying CNS abnormalities in children with GSDs.
• To guide physicians in the diagnostic work-up by correlating skeletal findings with potential CNS involvement.
• To assist in the early diagnosis and management of CNS complications associated with GSDs.

Main Methods:

• Classification of 180 GSDs based on skeletal manifestations (metaphyseal/epiphyseal, size/number, shape, dynamic/structural changes).
• Correlation of skeletal features with known CNS abnormalities through an extensive literature search.
• Focus on pattern recognition linking specific GSD skeletal phenotypes to characteristic neuroimaging findings.

Main Results:

• CNS involvement is a common comorbidity in GSDs, presenting a wide spectrum of morphological abnormalities.
• Specific CNS findings should be anticipated and screened for based on the underlying GSD and its skeletal characteristics.
• The proposed approach facilitates the identification of relevant CNS lesions.

Conclusions:

• Early and accurate diagnosis of CNS involvement is crucial for managing children with GSDs.
• This pattern-recognition strategy aids clinicians in the diagnostic work-up and management of GSD-related CNS issues.
• Integrating skeletal and neurological assessments improves patient outcomes.