Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

@article{Gitiaux2013DiaphragmaticWW,
  title={Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.},
  author={Cyril Gitiaux and Jean Bergounioux and Maryse Magen and Susana Quijano-Roy and Thierry Blanc and Jean Paul Bonnefont and Isabelle Desguerre},
  journal={Journal of child neurology},
  year={2013},
  volume={28 6},
  pages={787-90}
}
The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe neurogenic changes and sensory nerve abnormalities with more preserved nerve conduction velocities. Genetic studies identified 2 mutations in the… CONTINUE READING