Cerebral blood flow deficits in hereditary essential myoclonus.

Hereditary essential myoclonus is a disease in which segmental myoclonus is the sole clinical abnormality and whose cause is unknown. It is characterized by an early onset, a benign course, an autosomal dominant pattern of inheritance, the absence of any other neurologic dysfunction, and normal results of auxiliary tests. Cerebral blood flow studies of a father and son with this disease showed a cortical blood flow reduction contralateral to the myoclonus symptoms. We postulate the cause to be a focal unilateral subcortical cerebral lesion, either in the basal ganglia or in the brain stem, with subsequent cortical deafferentation.

Teratogenic effect of carbamazepine.

A girl was born to a mother who had undergone treatment for epilepsy with carbamazepine during pregnancy. The infant had dysmorphic features and was physically and mentally retarded. We consider that the malformations were the result of the maternal treatment with carbamazepine.

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.

Mental retardation in a patient with Maroteaux-Lamy.

An 8-year-old boy with Hurler-like traits including severe mental retardation excreted in his urine a pathognomonic amount of dermatan sulfate. Less than 10% residual activity of arylsulfatase B was found in his leucocytes and fibroblasts. Hurler fibroblasts corrected an abnormally high 35SO4-incorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux-Lamy fibroblasts did not. The patient thus has a rare combination of Maroteaux-Lamy and severe mental retardation.

Serum lipids and lipoproteins in 157 insulin dependent diabetic children and adolescents in relation to metabolic regulation, obesity and genetic hyperlipoproteinemia.

Serum lipids and lipoproteins were measured in 157 insulin dependent diabetic children and adolescents (IDDM) and in 350 healthy reference individuals. Serum triglyceride values were lower and total cholesterol and high density lipoprotein cholesterol higher in IDDM. Metabolic regulation reflected by glucosuria, postprandial blood glucose, number of hypoglycemic episodes and hemoglobin A1c all correlated strongly with serum triglyceride and very low density lipoprotein cholesterol. Serum lipids and lipoproteins did not correlate with obesity. Three children had genetic hyperlipoproteinemia. In IDDM measurement of serum lipids and lipoproteins can thus be used to further assess metabolic regulation. Measurement of serum lipids and lipoproteins seems warranted for future evaluation of the risk of cardiovascular disease in IDDM.

The efficacy and safety of human insulin (Novo) in insulin-dependent diabetic patients.

Fifty-one insulin-dependent diabetic patients, 26 children and 25 adults, participated in an open uncontrolled study of the safety and efficacy of human insulin (Novo). The patients, who had previously been treated exclusively with porcine insulin, were followed in two outpatient clinics during a 3-mo study period. During the study period the patients' mean insulin dose and postprandial blood glucose level, as well as the number of hypoglycemic episodes, did not change. The level of hemoglobin A1c was unchanged in the children but fell in the adult patients. None of the patients developed lipoatrophy or experienced any allergy or adverse reaction. One patient died of causes unrelated to the diabetes. Mean insulin-binding IgG did not change during the 3-mo study period. After 12 mo of treatment no significant differences were found between the mean level of insulin-binding IgG in patients who had continued treatment with human insulin and patients who had resumed treatment with porcine insulin after the 3-mo study period. It is concluded within the framework of this study that human insulin is safe and that no major differences in metabolic effect between purified porcine insulin and human insulin could be demonstrated. Thus, patients can be transferred from purified porcine insulin to human insulin without any special precautions.

Metabolic control in children with insulin dependent diabetes mellitus assessed by hemoglobin A1c.

The glycosylated hemoglobin component, hemoglobin A1c, was estimated in 92 children with insulin dependent diabetes mellitus by an iso-electric focusing procedure during an observation period of 18 months. A significant correlation between hemoglobin A1c and the actual metabolic control according to clinical ratings was found. A seasonal variation in the concentration of the hemoglobin A1c was observed with the lowest level in the months of June and July consistent with an improved metabolic control in the diabetic children during the summer period. A direct relationship was found between metabolic control as assessed by hemoglobin A1c and retarded linear growth expressed as standard deviation score for height. Children with poorly controlled diabetes (initial hemoglobin A1c level above 12.5%) improved their carbohydrate tolerance shown by a significantly lower glycohemoglobin level at the end of the observation period. Consequently, hemoglobin A1c is particularly useful in the routine management of insulin dependent diabetic children in poor metabolic control. Frequent determinations are necessary since in these patients the glucose profiles are prone to great variations, which may lead to changes in the hemoglobin A1c concentration of about 1% in a week.

Fluorescein angiography in diabetic children.

In 63 diabetic children, aged 10--14 years, with normal ophthalmoscopy, fluorescein angiography revealed slight diabetic retinopathy in maximally three, aged 12--14 years. These findings are discussed in relation to the controversial results published in a few other fluorescein angiographic studies on diabetic children. It is concluded that normal ophthalmoscopy does not exclude the presence of diabetic retinopathy and that fluorescein antiography is a valuable method in the early diagnosis of diabetic retinopathy.

Prophylactic diazepam or phenobarbitone in febrile convulsions: a prospective, controlled study.

After their first episode of febrile convulsions, 195 previously healthy children, aged 6--30 months, were given either diazepam or phenobarbitone for a year. Each child was assigned at random to one of the two medications: children admitted on even days were given a suppository containing 5 mg diazepam every 8 hours when the rectal temperature was greater than or equal to 38.5 degree C. Children admitted on odd days were given treatment with phenobarbitone, 3.5 +/- 1 mg/kg per day. 156 children completed treatment and outpatient control for a year, 83 in the diazepam and 73 in the phenobarbitone group. The rate of recurrence was independent of the prophylactic and 15--16 % of the children in both groups had new febrile convulsions within a year. The recurrence rate after 6 months was also similar, 11% in the diazepam group and 9% in the phenobarbitone group. New convulsions were of similar duration and severity in both groups. In both groups 6% of all febrile episodes led to new convulsions. Long-term treatment with phenobarbitone thus offered no advantage over intermittent diazepam.