Märta Donner

Incidence and Aetiology of Infantile Spasms from 1960 to 1976: a Population Study in Finland

This series of cases of infantile spasms comprised 107 children born between 1960 and 1976 in the county of Uusimaa, Finland. The incidence of the syndrome was 0–38 to 0–42/1000 live births and has remained almost unchanged during those years, although there have been changes in the size of different aetiological groups. The importance of prenatal and perinatal factors, and especially of neonatal hypoglycaemia, as causal factors has decreased, whereas the numbers of cases due to infections and malformations has increased.

Creatine kinase isoenzymes in neuromuscular diseases

Determination of the creatine kinase isoenzyme pattern in 62 biopsy samples obtained from patients with neuromuscular disease revealed changes mainly in Duchenne muscular dystrophy. The BB isoenzyme was detected in 10 out of 17 cases with Duchenne muscular dystrophy and the relative amount of MB+BB isoenzyme was significantly increased in this group (P less than 0.005). In serum the MB isoenzyme was detected in all 28 cases with progressive muscular dystrophy and frequently also in other neuromuscular diseases. Among 152 control samples the MB isoenzyme was detected only in 2 cases. It is suggested that the finding of MB isoenzyme in the serum with normal or only slightly elevated total CK activity may be a further proof of neuromuscular disorder, but the finding is not specific for any particular disease.

Optic neuritis in children and its relationship to multiple sclerosis : A clinical study of 21 children

The optic neuritis of 21 children aged between four and 14 years generally was characterized by bilateral involvement (62 per cent) and papillitis (76 per cent). Often acute infections or vaccinations were preceding events. Frequently there was pleocytosis during the disease process, with production of IgG, oligoclonal and viral antibodies, which increased during follow‐up. Nine of these children (eight female) later developed multiple sclerosis, with unilateral involvement of the optic nerves and HLA Dr2 positivity. Disseminated effects on the central nervous system were similar to those of adults with multiple sclerosis. In all cases these relapses occurred within one year of the optic neuritis. EEGs did not differentiate those who developed multiple sclerosis from those who did not, but four of five patients with multiple sclerosis who were followed‐up for a year or more had paroxysmal discharges, and one of the four had manifest epilepsy. Magnetic resonance imaging, visual and sensory evoked potentials and CSF studies were helpful in diagnosing multiple sclerosis. The visual prognosis was good in most cases. 17 children had no or only slight neurological disability at the end of follow‐up; the other four had moderate to severe disability. This study suggests that optic neuritis is a diffuse disease, not merely affecting the optic nerves, and that the immunological events typical of multiple sclerosis can start in childhood.

Pathology of congenital nemaline myopathy. A follow-up study.

This study was undertaken to review the development over 5-18 years of pathologic changes in 13 patients (4 male and 9 female) with congenital nemaline myopathy. Follow-up biopsies were compared with earlier biopsies and with published normal values as to quantity and location of nemaline bodies, secondary signs of myopathy, and in 6 patients as to muscle fiber type and size. Biopsy findings were correlated with the mobility and muscle power of the patient. The main differences in myofiber maturation in the patients as compared with normal myofiber maturation were: (1) deficient differentiation of type 2 fibers, (2) further increase of variation in fiber size with age, and (3) skewing in early adulthood of fiber size distribution curves toward the atrophic end. In ambulant patients, this skew seemed to be compensated with a population of hypertrophic fibers. The nemaline bodies tended to be located beneath the sarcolemma in the younger patients and inside the muscle fibers in the older patients. The quantity of nemaline bodies seemed to have increased with age. The clinical deterioration and the defective myofiber maturation in the patients together with an increase in internal nuclei and endomysial fat or fibrosis indicate an active disease process. This speaks against the generally held view that congenital nemaline myopathy is static.

Clinical appearance and outcome in mumps encephalitis in children.

ABSTRACT. Forty‐one patients with mumps encephalitis examined at the Department of Paediatrics, University of Helsinki, during the period Jan. 1, 1968, to Dec. 31, 1980, were reviewed with special reference to clinical appearance and outcome. The ratio of males to females was 4: 1 and the age range 1.2 to 13.7 years. The clinical findings were high fever ±39°C in 83.0 %), impairment of locomotion and balance (36.6%), seizures (24.4%), psychic disorders (22.0%), depressed level of consciousness (19.5 %), vertigo (12.9%) and/or gastric pains (12.9 %). One patient with congenital toxo‐plasma and cytomegalovirus infections died. On leaving the hospital eight were still ataxic, one of these was not able to speak and two had difficulties in concentration. One patient was transferred to another hospital because of psychosis. At the follow‐up examination 4 to 24 months after the onset of the disease two patients were ataxic and seven suffered from behavioural disturbances. Electroencephalography (12.2 % of all and 25 % of examined patients) showed generalized slow wave disturbance at follow‐up in six patients and borderline disturbances in eight.

Nemaline myopathy. Report of four cases and review of the literature.

Nemaline myopathy, first described in 1963 by Shy et al. (26), is characterized clinically by congenital nonprogressive or slowly progressive muscular weakness, most prominent in the proximal muscle groups. Histological preparations of a muscle biopsy reveal subsarcolemmal aggregates of minute abnormal rod-shaped or thread-like structures. Because of the thread-like appearance of these structures under the light microscope, the disease is called “nemaline myopathy”. At the ultrastructural level these rods seem to represent an accumulation of Z-band material with axial and cross striae and in cross sections at high magnification they seem to have a crystal lattice structure. Up to now, at least 30 patients with this disorder have been published, 19 of them females, and only 5 patients with late onset (Table 1 and 2). Because there have been no previous reports of nemaline myopathy in the Scandinavian countries, we present 4 cases diagnosed at the Children’s Hospital, University of Helsinki, in 1970.

PREDICTION OF EARLY SCHOOL‐AGE PROBLEMS BY A PRESCHOOL NEURODEVELOPMENTAL EXAMINATION OF CHILDREN AT RISK NEONATALLY

A group of 350 children who had had neonatal developmental risk‐factors were assessed at the age of five years with a neurodevelopmental examination. At nine years they were assessed again for neuropaediatric, motor, psycholinguistic, cognitive and school‐achievement problems. (Children with major handicaps were excluded.) Poor performance at age five was significantly associated with failure in the nine‐year examinations and with school problems. Sensitivity of the five‐year neurodevelopmental examination in predicting problems at nine years was 0·30 to 0·50, and its predictive value for an abnormal performance was 0·30 to 0·60. Predictively, the neurodevelopmental examination was accurate in defining children without later problems, but less satisfactory in defining those who did develop problems. Multiple linear regression analyses between the neurodevelopmental examination and the scores at nine years revealed low explanatory power. A shortened neurodevelopmental examination, based on the best predictors, seemed to be as efficient P as the full examination.

Experiences on the use of dipropylacetate in the treatment of childhood epilepsy.

ABSTRACT. The antiepileptic efficiency of dipropylacetate (DPA) was studied in 80 epileptic children who suffered either from seizures resistant to previous medication, so‐called idiopathic epilepsy or progressive myoclonus epilepsy. The average peroral daily dosage of DPA was 21 mg/kg divided into 2 to 3 doses. DPA was most effective in cases with 1) so‐called idiopathic epilepsy (genuine petit mal, photogenic epilepsy, myoclonic petit mal in older children), 2) seizures beginning in later childhood years, 3) photosensitive and hyperventilation‐sensitive seizures, 4) EEG showing symmetric generalized spike‐slow wave complexes provoked by photostimulation, 5) EEG without generalized disturbance or focal findings, 6) normal neurological and mental status, 7) progressive myoclonus epilepsy. DPA may thus be recommended for the treatment of the above‐mentioned cases and, due to good treatment results, also tried in other types of epilepsy.

Persistence of Tuberculin Sensitivity in BCG Vaccinated Persons Isolated in Institutions

Summary

A Follow‐up of 103 Children Recovered from Tuberculous Meningitis

A general review of the results of follow‐up examinations of 103 children who have recovered from tuberculous meningitis is presented.