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Related Experiment Videos

Midline developmental anomalies in Down syndrome.

Matthias Kieslich1, Sigrun Fuchs, Stefan Vlaho

  • 1Department of Pediatric Neurology, Johann Wolfgang Goethe University, Frankfurt/Main, Germany. matthias.kieslich@kgu.de

Journal of Child Neurology
|August 15, 2002
PubMed
Summary

This case report details a rare combination of Down syndrome (Trisomy 21) with severe midline developmental defects and encephalopathy in an infant. The findings suggest a potential genetic link involving the sim gene in these complex malformations.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Down syndrome (Trisomy 21) is frequently associated with cardiac and gastrointestinal defects, while central nervous system malformations are less common.
  • Infants with Down syndrome often experience varying degrees of mental retardation.

Observation:

  • A male infant with Trisomy 21 presented with microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and abnormal creases.
  • Cardiac sonography revealed a ventricular septal defect and mild pulmonary stenosis.
  • Cranial MRI showed infratentorial brain atrophy, widened cerebrospinal fluid spaces, and corpus callosum dysplasia.

Findings:

  • The infant exhibited muscular hypotonia, severe motor and mental retardation, microsomia, and epileptic seizures.

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  • A unique combination of Down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) and severe malformative encephalopathy was observed.
  • This specific combination has not been previously reported in medical literature.

    • Implications:

    • The study highlights a rare presentation of Down syndrome with significant midline defects and encephalopathy.
    • Genetic links between Down syndrome and midline defects may involve the human sim gene, suggesting a potential role in pathogenesis.
    • Further research into the sim gene's role could offer insights into developmental abnormalities in Down syndrome.