Immaturity of muscle fibers in the congenital form of myotonic dystrophy: its consequences and its origin.

Skeletal muscle maturation is impaired in children with congenital myotonic dystrophy. This immaturity is characterized at the light microscopy level by an abnormal presence of myotubes, small fascicles of muscle fibers, thin myofibers, and delayed muscle fiber type differentiation with a peripheral halo lacking mitochondrial oxidative enzyme activity. At an ultrastructural level, the characteristics are a paucity of myofibrils with a peripheral rim devoid of mitochondria and myofibrils in the fibers. In time the muscle is able to gain a certain degree of maturity as shown in one of our cases who had two successive muscle biopsies. The muscle, however, never becomes normal but retains discrepancies in fiber size and fiber type distribution and shows some fiber necrosis. Maturation of the motoneurons is normal, which may explain necrosis of immature muscle fibers. In an experimental study carried out to look for evidence of a circulatory factor in mothers of children with congenital myotonic dystrophy, it was found that sera from these mothers administered intra-peritoneally to newborn rats does in fact impair muscle maturation, whereas rats injected similarly with sera from control women showed normal muscle maturation.

[Respiratory function during wakefulness and sleep in a 7-year-old child with congenital alveolar hypoventilation of central origin]. / Fonction respiratoire à l'éveil et durant le sommeil chez une enfant de 7 ans ayant une hypoventilation alvéolaire congénitale d'origine centrale.

Pulmonary function tests were performed in a 7 year-old girl with central alveolar hypoventilation syndrome treated with mechanical ventilation during sleep. Results showed: 1. during wakefulness decrease in residual functional capacity, in dynamic lung compliance and in lung transfer factor for CO; 2. during sleep the characteristics of the syndrome as reported in the neonatal period i.e. central alveolar hypoventilation in stages 2 and 3-4 which justified maintenance of mechanical ventilation when asleep.

[Emergency treatment of inborn amino errors of amino acid metabolism detected in the neonatal period]. / Traitement d'urgence des aminoacidopathies à révélation nónatale.

The indications and effects of exchange transfusion, peritoneal dialysis, osmotic diuresis and early feeding have been studied in 28 children with inborn errors of aminoacid metabolism presenting in the neonatal period. Exchange-transfusion has only a transitory and incomplete effect but it is simple and quick. Peritoneal dialysis has a remarkable and often life-saving effect because the blood levels of toxic metabolites are reduced very effectively in organic acidaemias. However the rate of removal may decline if plasma concentrations fall below a critical level (1.2 mmol/L foor leucine). If the dialysis is prolonged for more than 36 hours it may cause hypoprotidaemia. Osmotic diuresis increases the 45 ml/min. However it is of little elimination of methylmalonic acid because the renal clearance is between 15 and 45 ml/min. However it is of little value in maple syrup urine disease, propionic acidaemia or isovaleric acidaemia because the renal clearance of the toxic metabolites is so low. The early re-introduction of low protein high calorie of a low protein and high calorie diet by continuous intragastric feeding is very important. The authors propose a protocol for the treatment of babies presenting inborn errors of aminoacid metabolism in the neonatal period. Peritoneal dialysis should be started as soon as the diagnosis is considered and continued for 24 to 36 hours. An exchange of transfusion shold be undertaken before and after the dialysis, together with an osmotic diuresis if appropriate. Continuous enteral feeding should be given, the quantity being adjusted to the baby's requirements.