Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine.

A sporadic event of myotonia congenita in a infant admitted to the Paediatric Clinic for frequent crises of apnoea, cyanosis, vomiting and difficult feeding is reported. EMG analysis was consistent with the dominant variety of myotonia congenita. Mexiletine therapy showed excellent results in reducing myotonic activity. It is worthwhile stressing that early symptoms may go unnoticed or may be misinterpreted and that information on the genetic form of the disease can be obtained also from the EMG analysis through a repetitive stimulation test.

[Preliminary results on blood carnitine levels in children with hepatic pathology]. / Risultati preliminari sulla carnitinemia in bambini con patologia epatica.

A deficiency of exogenous and endogenous carnitine is present in those pathologies in which the most important clinical sign is represented by weakness and steatosis. We have studied the serum levels of carnitine in 14 children with hepatic disease (8 with acute HAV hepatitis, 2 with acute HBV hepatitis, 2 with toxic hepatitis, 2 with chronic hepatitis). In patients with acute, infective and toxic hepatitis we have found levels of carnitine (25.71 +/- 2.14 nM/ml) below normal (50.87 +/- 1.46 nM/ml). In 5 cases we have performed two blood tests, at admittance to the hospital and at the end of the illness. The variability in carnitine levels in these two blood exams shows a clear correlation with clinical improvement, decrease in aminotransferase and increase in serum carnitine. In chronic hepatitis we have found normal levels of carnitine. Probably it is correlated with the absence of steatosis seen at hepatic biopsy.