A FAMILY WITH PARAMYOTONIA CONGENITA WITH THE REPORT OF AN AUTOPSY

A family having paramyotonia congenita was observed through following up a few members over a period of 19 years. The natural history of the syndrome is outlined. This bears out the character of the disease as an entity fully independent of other myotonic conditions. At later age, an increased stiffening of desmogenic nature occurs in the wrist and finger joints. Four members got paralysis agitans. The significance of this feature is discussed. One family member came to post-mortem. In the central nervous system, none but the normal age-induced alterations were observed. A discussion is given of the changes in the muscle fibres. These did not show any clearly preferred localisation. In the eye, atrophy of the ciliary body was found.     

RELIABILITY OF GONIOMETRIC MEASUREMENTS OF CHILDREN WITH CEREBRAL PALSY

The reliability of five lower-extremity goniometric measurements of 20 patients with moderate to severe hypertonicity was assessed by three pediatric physical therapists. The measurements were repeated on five of the children within one week. Intra-rater variation was less than inter-rater variation for all measurements, but variations of 10 to 15 degrees were found in inter-rater measurements. Intra-rater reliability was acceptable for measurements of hip extension, hip abduction and knee extension, but not for straight-leg raising or dorsiflexion.     

MEMORY IMPROVEMENT WITH TREATMENT OF HYPOTHYROIDISM

The consequences of inadequate thyroid hormone availability to the brain and treatment effects of levothyroxine on cognitive function are still poorly understood. This study prospectively assessed the effects of thyroid replacement therapy on cognitive function in patients suffering from biochemical evidenced, untreated hypothyroidism. Significant effects between the untreated hypothyroid group and control group were limited to verbal memory retrieval. When assessing the effects of 3-month treatment, results revealed that the treated hypothyroid group had significant increased verbal memory retrieval. Results suggest that specific memory retrieval deficits associated with hypothyroidism can resolve after replacement therapy with levothyroxine.     

PROPHYLACTIC TREATMENT OF MIGRAINE WITH PROPRANOLOL

30 patients suffering from intractable, repetitive migraine took part in a double-blind single-crossover trial to compare the effect of propranolol (at 120 mg per day) with that of placebo. During propranolol treatment the frequency of migraine attacks was reduced significantly; by more than 50 per cent in 9 patients and by less than 50 per cent in a further 9. In the remainder propranolol showed no advantage over placebo. It is concluded that, as propranolol has only few and mild side effects, it is a useful drug for preventing migraine attacks. As the pathogenesis of migraine is not completely understood, the mode of action of propranolol in preventing attacks cannot be fully explained. It has been possible, however, to relate some of the effects of betareceptor antagonism to the current knowledge of the condition.     

TREATMENT OF HUNTINGTON''S CHOREA WITH BROMOCRIPTINE

The authors tested the effects of 2-Br-ergocriptine (bromocriptine, CB-154), a drug which exerts a mixed agonist-antagonist activity on the dopaminergic receptors, in 12 patients with Huntington Chorea in a double-blind crossover trial. This treatment significantly reduced the abnormal involuntary movements and the disease severity in most of the patients. Subjects who were slightly disabled showed a better response than the ones with more severe degrees of disability.     

PROPHYLACTIC TREATMENT OF MIGRAINE WITH CLONIDINE

In a double-blind crossover trial of two 12-week treatment periods with a 4-week treatment free interval, to which 21 patients were admitted, there was no statistically significant difference between clonidine 75 microgram twice daily and placebo in the total number of headache days, migraine indices, duration of attacks, number of severe attacks and consumption of acute attack treatment. However, there was a marked reduction in number of headache days, migraine indices, duration of attacks and consumption of acute attack treatment during the second treatment period compared to the first treatment period, regardless of the treatment regime. This was presumably a result of prolonged treatment and frequent attention and not an effect of the active drug. 32 patients entered the trial, but 11 dropped out. Of the 21 patients completing the trial, 16 were women; the median age was 34 years (range 17-54 years) and the median duration of headaches 12 years (range 1-40 years). Only mild side-effects were registered and no laboratory abnormalities were seen.     

GROWTH OF TRUNK AND LEGS OF CHILDREN WITH MYELOMENINGOCELE

Total body length and body segments (crown-rump length, sub-ischeal length) of 78 children with myelomeningocele were measured at regular intervals during growth for a mean duration of 4.4 years. These children were shown to have defective growth, with an increased upper segment/lower segment ratio. It was found that the higher the level of the meningocele the greater the growth defects. However, the relationship was statistically significant only for the first seven years of life. It is concluded that neurological damage was mainly responsible for defective growth during the first years of life, but that other factors independent of the level of the meningocele also come into play in later years.     

UPPER-LIMB FUNCTION OF CHILDREN WITH MYELOMENINGOCELE

Upper-limb function of 33 children aged between four and 17 years, all with myelomeningocele and hydrocephalus, was investigated by clinical examination and formal tests of hand function. Cerebellar ataxia alone or with other neurological signs was the most common disorder detected. Hand-function scores were determined for each child and for different components of hand function, and the mean score for the whole group was only 59 per cent. In general, children over 11 years of age scored significantly better than younger ones. Children under 11 years of age with a milder degree of hydrocephalus or who were right-handed also scored significantly better. Only two children had clinically normal upper limbs.     

THE EEGs OF INFANTS WITH CITRULLINEMIA

Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy.     

ENERGY COST OF WALKING AND OF WHEELCHAIR PROPULSION BY CHILDREN WITH MYELODYSPLASIA: COMPARISON WITH NORMAL CHILDREN

The oxygen consumption of 15 myelodysplastic children during walking and propelling a wheelchair was studied. In comparison to normal children, they walked more slower and consumed more oxygen per meter, but had a similar rate of oxygen consumption. A swing-through gait pattern was 33 per cent more energy-efficient than a four-point gait pattern for these children. Wheelchair propulsion produced velocities and energy efficiencies similar to normal children walking. Oxygen consumption and velocity measurements were found to be significantly related to the clinical factors of level of lesion and strength of hip and knee extension. Regression lines and equations are presented to permit prediction of energy cost and efficiency from heart-rate data of myelodysplastic children.