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[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1]

D V I1,2, V A Aysina3

  • 1Khabarovsk Center for the Development of Psychology and Childhood «Psylogia», Khabarovsk, Russia.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
|May 25, 2022
PubMed

Insights

This case study presents a 5-month-old infant with neonatal epilepsy, bone fragility, and fractures. Genetic testing revealed two distinct inherited conditions: osteogenesis imperfecta and benign infantile seizures.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Neonatal epilepsy can present with diverse etiologies.
  • Osteogenesis imperfecta is a group of genetic disorders causing bone fragility.
  • Infantile seizures are common in neonates, often with benign outcomes.

Keywords:
COL1A1 genePRRT2 genebenign familial infantile seizuresbenign non-familial infantile seizuresosteogenesis imperfect

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