Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion
Harsimran Kaur1, Robyn P Thom2,3, Ann M Neumeyer2,4,5
1Government Medical College, Medical Enclave, Amritsar, Punjab, India.
Abstract:
3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gastrointestinal disorders, dental abnormalities, feeding problems during infancy, recurrent ear infections, and heart defects have also been observed. Since the incidence of the deletion is rare, the phenotype has not been fully described, particularly in adults. This report describes a young adult female with 3q29 deletion syndrome, autism spectrum disorder, intellectual disability, and anxiety who experienced a sustained, non-medication induced paroxysmal oculogyric dystonia which responded to anticholinergic and antihistaminic medications. This is the first report of paroxysmal oculogyric dystonia associated with this deletion, possibly expanding the phenotypic features of this microdeletion syndrome.
Insights
3q29 deletion syndrome, a rare genetic condition, can present with neurological issues. This case report highlights paroxysmal oculogyric dystonia as a newly identified feature in an adult patient.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- 3q29 deletion syndrome is a rare microdeletion disorder affecting approximately 1 in 30,000 births.
- It is characterized by a heterozygous deletion on chromosome 3, leading to a range of developmental and physical abnormalities.
Observation:
- The syndrome typically presents with mild-to-moderate intellectual disability, autism spectrum disorder, dysmorphic facial features, ataxia, and chest deformities.
- Other reported issues include gastrointestinal problems, dental abnormalities, feeding difficulties, recurrent ear infections, and congenital heart defects.
Findings:
- This report details a young adult female with 3q29 deletion syndrome, intellectual disability, autism spectrum disorder, and anxiety.
- She experienced paroxysmal oculogyric dystonia, a rare neurological movement disorder, which was successfully treated with anticholinergic and antihistaminic medications.
Implications:
- This is the first documented case of paroxysmal oculogyric dystonia associated with 3q29 deletion syndrome.
- This finding may expand the known phenotypic spectrum of this rare genetic disorder, particularly in adult patients.
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