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My own way to pediatric neurology started with basic training in pediatrics at a time when neurology barely existed, but certainly not pediatric neurology. By chance, I happened to be involved with a family with interesting muscular symptoms and this awoke my interest in neurology in general, and particularly in muscle diseases and genetically determined diseases. I am deeply indebted to American pediatric neurology, since I got a wonderful chance to study pediatric neurology in the United States, particularly in Boston. To work within this field has always given me pleasure. The combination of strictly logical neurologic reasoning and the way to reach it through improvising and playing with the child is particularly exciting. For many of these diseases we have no definite cure, and some of them cause the death of the child, a serious situation for all involved. In these situations, I have come to know many parents for whom I feel a deep respect, affection, and admiration. Children and parents have taught me much, particularly the necessity of always being at eye level with the patient or the conversation partner, both literally and figuratively.

The paper describes my own case of Lyme borreliosis, thus from the patient's point of view, stressing the clues which might have led to an earlier diagnosis. Intense antibiotic treatment is of value, also when given first some 15 years after the probable time of the infection, as, at least in my case, it stopped the progress of all symptoms and removed some of them, particularly muscle pains and skin abnormalities. Long-standing, well-established neurological symptoms, however, remain unchanged, but their previous slow, steady progress has stopped. The diagnosis is in itself valuable, as it is a relief to know what is behind the complaints.

Thirteen children with Friedreich's ataxia were reviewed. The clinical presentation and evolution of the disease was compared to that observed in large series--based mainly on adult patients--and the few studies in children. The mean age of onset (5.3 +/- 2.7 years) was lower than that reported in the former studies. Progressive unremitting ataxia of all four limbs was the earliest and most consistent finding, whereas dysarthria and loss of joint or vibration sense occurred with less frequency than that reported in adult series. The tendon jerks were absent or reduced in the lower limbs in almost all children. The universal absence of lower limb reflexes was shown to be too rigid to be obligatory for the diagnosis of early cases of Friedreich's ataxia. Electrophysiologic investigations revealed typical findings, ie, normal or low-normal motor conduction velocities and absent sensory responses. Electromyography showed more features of denervation in the lower limbs than in the upper limbs. Cardiac symptoms and signs were minimal, whereas electrocardiographic abnormalities occurred in 92% of patients, presenting mostly as significant T-wave changes. Concentric symmetric thickening of both the interventricular and left ventricular posterior walls was the major echocardiographic finding.

Personal experience of 30 years work with 40-50 cases of dermatomyositis and polymyositis in childhood is reviewed, stressing the clinical findings of skin eruptions on the knuckles, elbows and knees (except in the 10 per cent of patients without any skin involvement), weakness of particularly proximal muscles and tightness of tendons. Special diagnostic procedures are reviewed as well as treatment. The basic treatment is corticosteroids, which must be started at a high dose and as soon as possible be given at intervals of 48 hours to diminish the side-effects. In many, though not all, patients the treatment must be continued for years. The parents should always know that extended treatment may be necessary. Physiotherapy should be started cautiously and be slowly increased, close co-operation between the physician and the physiotherapist being necessary. If the patient does not respond to corticosteroids, antimetabolites may be added. Most patients survive with no or only minor sequelae.

It is stressed that the best possible medical care is the basic need and an absolute pre-requisite for the total care of a family with a chronicall ill, handicapped or dying child. However, this is not enough. The family will need something more than just strict medical care. This paper is concerned with the "something more," stressing the family's need for measures helping them to work with the crisis reaction, elicited by the information they have received about the child's diagnosis and prognosis. The methods of bringing the family help is discussed in relation to the time-schedule of the disorder. The importance of how the first information is given is particularly stressed.

The results from systematic determinations of the serum level of phenytoin in 121 epileptic children are reported. The range 12-25 mg/l is effective in most of the children, responding at all to phenytoin, and causes few and minimal side effects. Practically all children with pure grand mal epilepsy could be kept seizure-free on an optimal dose of phenytoin alone. Possibly the level aimed at should be higher in severe cases than in mild ones. Our initial dose was 10 mg/kg daily; this dose was adjusted according to the serum level until the desired range was reached. Phenytoin produced a lower serum level than the same dose of its sodium salt. Interaction possibly occurs with carbamazepine, which tended to decrease the level, and with acetazolamide, which tended to increase the level. With the help of serum phenytoin determinations an individual dose can be chosen for each patient and phenytoin therapy be rendered safer and more effective.

X-chromosome-specific DNA probes were used to study a new type of muscular dystrophy (MD) presented by two boys in a family in which there was no previous history neuromuscular disease. Clinical investigations showed evidence of myogenic myopathyia, but its exact nature could not be established. The results of the DNA analysis exclude DMD, BMD and EMD. We suggest a probable autosomal recessive inheritance for the MD seen in this family.

Some conditions causing neurogenic or myogenic myopathy are reviewed and illustrated by cases of 1) perinatal cervical cord injury; 2) various types of progressive spinal muscular atrophy and 3) congenital muscular dystrophy, Duchenne-like type of muscular dystrophy, limb-girdle type of muscular dystrophy. All the cases of muscular dystrophy described here occurred in girls.