Case report: fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse

HIGHLIGHTS

• who: Giulia Aquilano from the University of Freiburg Medical Center, Germany have published the paper: Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse, in the Journal: (JOURNAL)
• what: The authors report a fatal PDE case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and possible persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.

SUMMARY

Pyridoxine-dependent epilepsy (PDE; OMIM 266100) is a rare disease firstly described in 1954 by Hunt et_al. The . . .

 



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