Partial epilepsy and developmental delay in infant with ring chromosome 14

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Ring chromosome 14 (r14) syndrome is a rare chromosomal disorder.
• It is associated with a distinct set of clinical features including early-onset epilepsy and developmental abnormalities.

Observation:

• A case of a female infant presenting with partial seizures and delayed development is described.
• The patient experienced afebrile generalized convulsions at 9 months, later evolving into complex partial seizures.

Findings:

• Karyotyping revealed the diagnosis of 46, XX, r(14) (p11.2q32.3).
• Despite the absence of consistent neuroimaging or EEG findings, clinical presentation and facial dysmorphisms aided diagnosis.
• Epilepsy in this patient was refractory to initial treatment, requiring adjustments in medication.

Implications:

• The study highlights the importance of chromosomal analysis in infants with unexplained refractory epilepsy and developmental delay.
• Early diagnosis of ring chromosome 14 syndrome can facilitate timely management and genetic counseling.
• Pediatric neurologists should consider chromosomal abnormalities when faced with complex neurological presentations in infancy.