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Foramen magnum compression in Coffin-Lowry syndrome: A case report
Jariya Upadia1, Jerry Oakes2,3, Austin Hamm1
1Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Insights
Coffin-Lowry syndrome (CLS) can present unusually in infants with life-threatening events due to brainstem compression. This case highlights CLS
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Coffin-Lowry syndrome (CLS) is a rare X-linked dominant genetic disorder.
- Typical CLS manifestations include intellectual disability, growth retardation, dysmorphic facial features, and skeletal anomalies.
Observation:
- A patient presented with apparent life-threatening events (ALTE) caused by hydrocephalus and brainstem compression.
- Facial appearance, short limbs/fingers, and small size initially suggested hypochondroplasia due to foramen magnum narrowing.
Findings:
- Diagnostic evaluation confirmed Coffin-Lowry syndrome (CLS).
- This case underscores the significant variability in CLS clinical presentation.
Implications:
- Early skeletal findings in CLS can be misleading in infants.
- Recognizing atypical presentations is crucial for timely diagnosis of Coffin-Lowry syndrome.
Abstract:
Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. © 2017 Wiley Periodicals, Inc.
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