"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

We describe a 6-year-old girl admitted with acute muscular weakness and pai n which made her unable to walk. Her parents reported a 4-year history of s imilar episodes which occurred once or twice a year and always resolved spo ntaneously. Laboratory investigations showed elevated serum creatine kinase which peaked at day 2 of the attack with 18,600 U/I. Carnitine palmitoyltr ansferase-II deficiency was suspected based on the determination of serum a cylcarnitines by tandem mass spectrometry which showed a characteristic ele vation of long-chain C16 and C18:1 acylcarnitines. The diagnosis was confir med by impaired in-vitro palmitate oxidation in blood and the detection of a homozygous substitution Sl 13L in the carnitine palmitoyltransferase-II g ene. Conclusion: Carnitine palmitoyltransferase-Il deficiency should be inc luded in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood.