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[Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome]

Tomohiro Kumada1, Masatoshi Ito, Tomoko Miyajima

  • 1Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga. tkuma@k6.dion.ne.jp

No to Hattatsu = Brain and Development
|November 25, 2003
PubMed

Insights

This study details an infant with 18q deletion syndrome experiencing intractable apneic seizures. The deletion, particularly at 18q22.3, is linked to severe neurological issues including epilepsy and white matter dysmyelination.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • 18q deletion syndrome is a rare chromosomal disorder associated with various developmental abnormalities.
  • Intractable epilepsy and neurological deficits are significant challenges in managing affected infants.

Observation:

  • A case report of an infant with mosaic 18q interstitial deletion (q12.3-q22.3) presenting with intrauterine growth retardation and dysmorphic features.
  • The infant developed intractable apneic seizures, diagnosed as complex partial seizures, starting at 3 months of age.
  • Neurological examination revealed severe psychomotor retardation, diffuse cerebral atrophy, and white matter dysmyelination on MRI.

Findings:

  • Epileptic focus identified in the right parieto-temporal region using ictal EEG and FDG-PET.
  • Severe white matter dysmyelination was attributed to the deletion of the myelin basic protein gene at 18q22.3.
  • The 18q21.3-q22.3 locus is suggested to be responsible for autonomic seizures in 18q deletion syndrome.

Implications:

  • This case highlights the critical role of the 18q22.3 locus in myelin basic protein gene expression and neurological development.
  • Understanding the specific genetic loci involved in 18q deletion syndrome is crucial for targeted therapies and improved patient outcomes.
  • Further research is needed to fully elucidate the genotype-phenotype correlations and long-term prognosis of epilepsy in this syndrome.

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