[Rhabdomyosarcoma of the orbits in childhood].

Background: Rhabdomyosarcoma is the most common malignant orbital tumor in children. Treatment modalities (individualized therapy or study protocol) have been changed radically. Surgery was supplemented by radiation therapy and chemotherapy.

[Diagnosis of hereditary metabolic disorders in newborn and young infants].

This report describes anamnestic, physical and biochemical data in the neonatal period which have led to the diagnosis of an inborn error of metabolism in 12 children. Even in hospital laboratories without facilities for elaborate biochemical assays, adequate investigations permitting timely referral of the patient to a more specialised hospital can often be carried out. Most important is the constant awareness of the pediatrician in case of serious illness which cannot be easily explained by more common causes.

Successful treatment of severe carbamyl phosphate synthetase I deficiency.

We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance.

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.

A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given.