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Polymicrogyria in chromosome 22 delection syndrome
P M Bingham1, D Lynch, D McDonald-McGinn
1Division of Neurology, Children's Hospital of Philadelphia, PA 19104, USA.
Neurology
|November 18, 1998
Summary
Chromosome 22q11 deletion syndrome can present with polymicrogyria. Consider 22q11 deletion in patients diagnosed with polymicrogyria.
Area of Science:
- Neurogenetics
- Developmental Biology
- Pediatric Neurology
Background:
- Chromosome 22q11 deletion syndrome is a common genetic disorder with diverse clinical manifestations.
- Polymicrogyria is a brain malformation characterized by excessive small folds on the cerebral surface.
Observation:
- Two pediatric patients with diagnosed chromosome 22q11 deletion syndrome were identified.
- Both patients exhibited neuroradiologic evidence of polymicrogyria.
Findings:
- This case series highlights a potential association between chromosome 22q11 deletion syndrome and polymicrogyria.
- Neuroradiologic findings of polymicrogyria were present in children with 22q11 deletion.
Implications:
- The findings suggest that polymicrogyria may be an underrecognized feature of chromosome 22q11 deletion syndrome.
- Clinicians should consider genetic testing for 22q11 deletion in children presenting with polymicrogyria.
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