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The possible roles of pertussis immunisation and of other factors in the aetiology of infantile spasms were investigated by analysis of 269 cases reported to the National Childhood Encephalopathy Study. In 34% of the cases an antecedent factor which may have caused infantile spasms was identified; the commonest of these were perinatal hypoxia (38 cases) and tuberous sclerosis (16 cases). Case-control analyses showed no significant association between infantile spasms and pertussis immunisation in the 28 days before onset. There was, however, some clustering of cases immunised with either diphtheria-tetanuspertussis or diphtheria-tetanus vaccines in the 7 days before onset. The excess compared with controls was compensated for by a corresponding deficit over the remaining period up to 28 days. It is suggested that these vaccines do not cause infantile spasms but may trigger their onset in those children in whom the disorder is destined to develop.

Fifty-four infants born severely asphyxiated with birth weights of more than 2500 g and gestational ages older than 37 weeks were studied with help of careful review of the case files. To establish a relationship between the time elapsed after birth to spontaneous regular active respiration and later outcome, the infants were divided into three groups: group A of 34 children, established spontaneous active respiration within 15 min; group B of 7 children recovered in 15-30 min, and group C of 13 children recovered 30 min after birth. The outcome in group C, in which the infants also had a history of prolonged intrapartum asphyxia, was uniformly bad. The absence or presence of an audible heart beat at birth was not a reliable clinical sign for a prognosis. The time that elapsed between the start of resuscitation and the first gasp had to be doubled to indicate the likely start of regular active respiration in one third of our babies. The results indicated that the combination of prolonged intrapartum asphyxia and a delay in onset of spontaneous regular respiration of more than 30 min following birth predicted a uniformly bad prognosis. Attempts at resuscitation after this interval did not appear to be warranted.

A child with acute lymphoblastic leukaemia complicated by prolonged gastrointestinal and skin haemorrhages due to profound thrombocytopenia finally died of thrombotic occlusions of major cerebral arteries due to mucormycosis. Biopsy of any suspect lesion is needed urgently before prolonged therapy with amphotericin B is started. So far there have been no cures in childhood.

Sixteen patients or convalescents of West syndrome (WS) were studied. The function of cholinergic neurons was investigated by means of physostigmine or atropine testing. In all the cases physostigmine had a considerable inhibitory effect and atropine++ supported the EEG paroxysmal++ activity. Cholinergic system has an important role to play in the WS pathogenesis.

A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be considered in patients with progressive myoclonic epilepsy.

Current knowledge about the diagnosis, treatment, and prognosis of neonatal seizures is reviewed. The pitfalls in establishing the diagnosis are emphasized and the usefulness of new electrodiagnostic techniques is discussed. A protocol for treating neonatal seizures is suggested. Finally, the clinical and electroencephalographic variables which are relevant in determining neurologic outcome are discussed.

Pyruvate carboxylase deficiency results in congenital lactic acidosis. We report the significant finding in a child with infantile spasms controlled with adrenocorticotrophin hormone (ACTH) but who then developed severe lactic acidosis; pyruvate carboxylase deficiency was subsequently diagnosed. Blood lactate, pyruvate, and alanine levels were elevated, as well as cerebrospinal fluid alanine. Plasma alanine concentration was doubled by ACTH therapy. Fibroblasts contained extremely low pyruvate carboxylase activity. The patient died at 12 weeks of age after recurrent episodes of profound acidosis. At autopsy, the brain manifested cystic degeneration and demyelination. Pyruvate carboxylase deficiency is associated with neonatal onset of acidosis, delayed development, seizures, hypotonia, recurrent profound acidosis, and early death. The dramatic rise in plasma alanine content coincident with ACTH therapy suggest that ACTH played a role in precipitating the catastrophic metabolic acidosis.

The clinical manifestations and the classification of the epilepsies of infants are briefly reviewed. 207 cases were classified status epilepticus (51 cases), brief partial seizures (57 cases), and brief generalized seizures (99 cases). Lesional factors, especially brain malformations, play a major role in the aetiology, but the importance of genetic factors is suggested by the presence of a positive family history of convulsive disorders in 25% of the cases. The mental and neurological prognosis is grave, as only 22% of the patients developed normally. The prognosis varies with the aetiology of the epilepsies and appears more favorable when familial antecedents of convulsive disorders are present.

The results of corticotropin treatment of 33 subjects with infantile spasms are reported. In 8 patients the disease was idiopathic and in 25 secondary. Among the idiopathic cases, full clinical and EEG normalization was obtained in 5. No anticonvulsants were given after the corticotropin treatment. All children have remained normal without therapy. Among the 25 secondary cases, complete normalization was obtained in one with meningioma and improvement in 15 others. The dosage of ACTH was usually 2 U/Kg/bw for 10 days and 10 U/Kg/bw on alternate days for a further 20 days. These findings indicate that therapeutic results quite similar to the most favourable reported in the literature can be obtained, with few side effects, with a low dosage and a short period of treatment with corticotropin.

The last twenty years have seen substantial advances in knowledge concerning the diagnosis as well as the long-term evolution of epilepsies in infants and children. There is, however, no general agreement among epileptologists on the framework of epileptic syndroms in infancy and childhood. The main problems are the lack of a uniform terminology and the fact that there is little unanimity concerning definitions and what may be included under individual syndromic rubrics. In consequence the nosological limits between the various syndromes described are not distinct and they very often represent a heterogenous group of disorders and not a single entity. The present paper reviews the literature recently published and discusses diagnostic difficulties and nosological problems. In addition the attempt has been made to elaborate a "multi-dimensional" classification of syndromes, based on clinical (using the terminology of the international classification) and electroencephalographic criteria, but also taking into consideration aetiological and evolution data. Results show that it was possible to differentiate within a cohort of 77 infants aged 0-24 months (suffering from various types of epileptic disorders) several distinct and homogenous nosological entities and syndromes. As it is well known today, that the type of epilepsy which occurs in a child as well as the prognosis of the disease represent a confluence of age, heredity and structural brain abnormality, it seems apparent that adequate classification systems have to take into consideration the complexity of various factors "triggering" the onset and influencing the course of the disease, even when a number of cases remains outside resp. "borderline" such a syndromic classification.

A 7-month-old infant had the infantile spasm syndrome, consisting of flexor and extensor spasms, developmental delay, and hypsarrhythmia. Corticotropin produced delay, and hypsarrhythmia. Corticotropin produced improvement in the clinical symptoms and reverted the generalized electroencephalographic abnormalities to more focal ones. Removal of a choroid plexus papilloma of the left lateral ventricle was followed by clinical recovery. One year later the child was normal developmentally and neurologically and was seizure free on anticonvulsant therapy.

To determine the role of noradrenaline, dopamine, and serotonin in the brain of patients with infantile spasms, levels of respective major metabolites in cerebrospinal fluid were examined. Homovanillic acid levels were significantly increased in these patients, while 3-methoxy-4-hydroxyphenylethylene glycol and 5-hydroxyindoleacetic acid were not significantly altered, as compared with controls. In patients with febrile convulsion and status epilepticus who were examined during or within a few hours after convulsions the same phenomenon was evident. The increased level of dopamine metabolite was closely related to the occurrrence of convulsions and is considered to be a secondary phenomenon.

The anatomic maturation of the brain of preterm babies of 28-36 weeks of gestational age is characterized by an increase in continuity by a differentiation in behavior states in the EEG pattern. The EEG results are essential in the diagnosis of seizures in preterm babies. For the prognosis of these seizures the etiology and the gestational age also have to be taken into consideration. An amelioration of the prognosis of neonatal seizures is possible by adequate therapy.

Four cases of Aicardi's syndrome are presented, reporting in two of them angiographic and bone abnormalities such as arterial microaneurysm and scapula displacement, that have not been previously reported in the literature.

A child had neonatal polycythemia, severe seizures beginning at 6 weeks of age, and a computerized tomography scan showing multiple cerebral infarcts. Follow-up showed substantial developmental delay with spastic quadriplegia. This case illustrates that neonatal polycythemia is a rare but preventable cause of multiple cerebral infarctions, subsequent seizures, and developmental delay.

A total of 272 mature newborn babies with perinatal neurological pathology and convulsive syndrome were studied. EEG, USI, diaphanoscopy, CT, blood tests for glucose, Calcium, Magnesium, bilirubin, pyridoxal-5-phosphate were performed. Cerebral structure was changed in 50.8 of the patients, and metabolic disorders detected in 13.8%. The recommendations were offered for the therapy of convulsive syndrome in newborns with due account of the above stated disorders.

Fifty children with marked neurological abnormality manifested by moderate or severe motor disability and severe mental retardation were compared with a large control population with respect to prospectively ascertained perinatal characteristics. None of 60 prenatal factors distinguished the affected group from controls. In labor and delivery, lowest fetal heart rate in the second stage of labor, arrested progress of labor, and use of midforceps discriminated between the two groups. Neonatal characteristics of children who were later severely handicapped differed from controls, particularly with respect to difficulty in initiating and maintaining respiration, intracranial hemorrhage, neonatal seizures, low birth weight and small head circumference, lowest hemoglobin or hematocrit, and overall neurological status. Multivariate analysis, including factors from all epochs, indicated that intracranial hemorrhage and neonatal seizures were the strongest independent discriminators between the neurologically impaired children and controls.

The authors present a case of a girl who showed flexion spasms, chorio-retinopathy and agenesis of corpus callosum, an association known as the Aicardi syndrome. They have made a wide revision of the literature, examining in detail the clinical aspects and diagnosis with other malformations and infections. Lastly, they comment the aspects of etiology and pathology of the disease which still remain unclear.

This paper describes a case of late neonatal convulsions due to intracranial haemorrhage in a newborn with cholestatic hepatopathy due to PiZZ homozygote alpha-1-antitrypsin deficiency. The deficiency of vitamin K dependent clotting factors, responsible for the haemorrhage, seems to be due to the cholestasis and might have been aggravated by the non-administration of vitamin K at birth and by breast feeding. The response to vitamin K therapy was good.

We report the occurrence of infantile spasms following near-drowning in two children with previously normal development. In both cases, the episode of near-drowning occurred well after the 1st year of life, and the age at onset of spasms (20 and 34 months, respectively) was unusually late. The possible significance of these two cases in relation to the pathophysiological mechanism underlying infantile spasms is briefly discussed.