[Seckel syndrome. Report of a case]

Area of Science:

• Genetics and Developmental Pediatrics

Background:

• Seckel's syndrome is a rare genetic disorder characterized by intrauterine growth retardation, postnatal dwarfism, microcephaly, and intellectual disability.
• Previous reports suggest potential links between maternal antiepileptic drug exposure and Seckel's syndrome, though the exact mechanisms remain unclear.

Observation:

• A 7-year-old girl presented with abdominal colic, low birth weight, significant growth delay, microcephaly with a bird-headed appearance, and severe intellectual retardation.
• The patient's mother had a history of epilepsy treated with antiepileptic drugs for years, though treatment was suspended during the second month of gestation.

Findings:

• The presented case meets the diagnostic criteria for Seckel syndrome based on physical and developmental characteristics.
• Analogies were drawn to another reported case of Seckel syndrome in a child born to an epileptic mother undergoing antiepileptic treatment.

Implications:

• This case contributes to understanding the phenotypic spectrum and potential etiological factors of Seckel syndrome.
• Further research is warranted to elucidate the role of prenatal factors, including maternal antiepileptic drug exposure, in the pathogenesis of Seckel syndrome.