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Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

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Abstract

We present a premature infant with an inability to ventilate spontaneously during sleep periods. In addition, the patient showed general hypotonia. The child had a delayed passage of stool and increased anal muscle tone, indicating Hirschsprung’s disease. The combination of these symptoms suggested congenital central hypoventilation syndrome, which was confirmed postmortem by DNA analysis showing a mutation in the PHOX2B gene. MRI of the brain showed damage to the white matter, including the internal capsula. This type of damage to the white matter has not been described before in a premature infant, who did not experience birth asphyxia.

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Abbreviations

CCHS:

Congenital central hypoventilation syndrome

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Acknowledgments

There is no conflict of interest in this study.

Author information

Correspondence to Sidarto Bambang Oetomo.

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van Delft, E., Andriessen, P., Vaessens, C.N.A.L. et al. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. Eur J Pediatr 169, 895–898 (2010). https://doi.org/10.1007/s00431-009-1112-z

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Keywords

  • Congenital central hypoventilation syndrome
  • Ondine’s curse
  • MRI
  • Premature