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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
Published on: July 13, 2015
Paradoxical eyelid movement in trisomy 2p
Tatsuya Ishikawa1, Kazuhisa Inukai, Manabu Kanayama
1Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
Pediatric Neurology
|April 17, 2002
Summary
A rare case of paradoxical eyelid movement in a 12-year-old female with dup(2)(p25.3p22.2) was documented. This unique ocular finding persisted for 11 years, alongside severe developmental and physical anomalies.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Presents a unique case of paradoxical eyelid movement in a pediatric patient.
- Highlights the genetic anomaly dup(2)(p25.3p22.2) associated with complex clinical features.
Observation:
- Describes persistent, alternating seesaw-like eyelid movements during lateral gaze observed from 5 months to 12 years of age.
- Documents associated ophthalmologic abnormalities, severe psychomotor retardation, growth failure, epilepsy, and multiple congenital anomalies.
Findings:
- Differentiates the patient's paradoxical eyelid movements from Duane syndrome.
- Discusses potential pathogenetic mechanisms for the observed eyelid abnormalities and associated syndromic features.
Implications:
- Suggests a potential link between dup(2)(p25.3p22.2) and complex neurological and ophthalmologic phenotypes.
- Underscores the importance of comprehensive evaluation in pediatric patients with rare genetic and movement disorders.
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