Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002.

Aicardi syndrome has been defined by the triad of agenesis of the corpus callosum, early seizure onset and lacunar chorioretinopathy. In a nation-wide survey a total of 18 Swedish cases were found. Fourteen girls were re-examined by one of the authors at the ages of 1-27 years. One was seizure free following epilepsy surgery operation, 13 were drug resistant. Two were on ketogenic diet. Most of the girls had multifocal EEG discharges. All except one were severely disabled with severe mental retardation and total dependency on helpers for activities of daily life. Communication, nutrition, and motor function were severely affected areas. Visual function was difficult to evaluate because of mental retardation and lack of co-operation and varied from severely impaired to normal. In one case the appearance of the ocular fundus was documented to have changed with time. One girl was exceptional and seizure free with mild mental retardation. An update by March 2006 showed that 12/18 patients were still alive, at a median age of 13.5 years (range: 3-31 years). Six had died between the ages of 3-10 years. They had all suffered from intractable epilepsy and belonged to the most disabled group. Surprisingly two had died from malignant brain tumours.

Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002.

In a nation-wide survey of Aicardi syndrome, defined as the onset of epilepsy in the first six months of life, agenesis of the corpus callosum (partial or total) and lacunar chorioretinopathy, 18 patients, all girls, born between 1975 and 2002 were identified in Sweden. Fifteen were definite cases and three were regarded as probable, since they only fulfilled two of three inclusion criteria in addition to other cerebral malformations and/or chorioretinal changes. Calculations based on this survey and population-based studies on epilepsy in retarded children yielded a prevalence rate in the range of 2 - 15 : 100 000 girls. All but one had an ordinary birth weight, length and head circumference for gestational age. One was born preterm, one post term. The age at diagnosis varied from three days to 12 years and decreased during the period reflecting the increased awareness of the syndrome. Eleven came to medical attention because of seizures. Six had myoclonic, four generalized tonic-clonic and eight tonic, clonic or complex partial seizures. One had hypsarrhythmia, five multifocal epileptiform activity, three bilateral independent bursts, two burst-suppression pattern, six other types of spikes and one slowing of background activity. Asymmetrical EEG abnormalities indicating independent hemispheric dysfunction were detected in 13/18 (72 %). Complete absence of the corpus callosum was found in 13/18 (72 %), although not identical with the previous group, a partial defect in 3/18 (17 %), and a thinning in 2/18 (11 %). Of 15 children with definite Aicardi syndrome, 13 had binocular and two monocular lacunae. In one of the latter two, subtle monocular lacunae were found on fundus photographs, but had been missed on repeated clinical examinations. Of three children with probable Aicardi syndrome typical lacunae were reported in one and other kinds of depigmentation in the other two. Most of the children had anomalous optic discs. Neuroimaging in infancy or early childhood combined with ophthalmological examination and ocular fundus photography will facilitate an early diagnosis of Aicardi syndrome. Seizure type and EEG abnormalities may be non-specific at onset.

Central nervous system and ophthalmic involvement in nephropathia epidemica (European type of haemorrhagic fever with renal syndrome).

Central nervous system (CNS) - related symptoms occur in haemorrhagic fever with renal syndrome (HFRS). To study the CNS and ophthalmic involvement in nephropathia epidemica (NE), the European type of HFRS, we included 26 patients in a prospective study. Most common CNS-related symptoms were headache (96%), insomnia (83%), vertigo (79%), nausea (79%), and vomiting (71%). Ophthalmic symptoms were reported by 82% of patients; 41% had photophobia and 50% had impaired vision. A transient loss of vision was recorded in one patient, who also had a generalized seizure. Minor white matter lesions were found in about half of the patients investigated with brain magnetic resonance imaging (MRI). Electroencephalography (EEG) showed severe alterations in only one patient, and slight and reversible patterns in another two patients. Neopterin, interleukin-6 and interferon-gamma levels in the cerebrospinal fluid (CSF) were elevated, which may indicate immune activation. However, we found no evidence of intrathecal NE virus replication. We conclude that CNS-related symptoms are common in NE, and transient ophthalmic involvement can be demonstrated in about half of the patients.

Assessment of exposure to arsenic among smelter workers: a five-year follow-up.

In a group of 43 smelter workers exposed to inorganic arsenic dust for 13-45 years, nerve conduction velocities (NCVs) were significantly lower in two peripheral nerves as compared with matching referents. With multivariate data analysis, a significant negative correlation was found between cumulative absorption of arsenic and NCV in four examined nerves and the sural amplitude. Clinical symptoms of neuropathy and other symptoms related to arsenic exposure were moderate, though the difference between the groups was significant. The mean total absorption of arsenic was calculated to be less than 5 g, and the maximal absorption about 20 g. These data indicate that the adverse effect of arsenic on the peripheral nerves is dependent on long-term exposure rather than on short-term fluctuations in exposure levels.

Recurrent parotitis and sialectasis in childhood. Clinical, radiologic, immunologic, bacteriologic, and histologic study.

Twenty children with juvenile recurrent parotitis, between 3 months and 16 years of age at onset, were followed up over a period of 7 to 22 years. Radiologic, histopathologic, cytologic, immunologic, and bacteriologic studies were performed to investigate the cause of sialectasis, commonly found in juvenile recurrent parotitis, and the pathogenesis of the disease. It was considered that a combination of a congenital malformation of portions of the salivary ducts and infections ascending from the mouth following dehydration of the children are contributory to the pathogenesis of the disease. The results of the investigations into the cause of the disease appear to exclude an auto-immunologic response or an allergic condition, an immature immune response, mumps, a sensitivity to upper respiratory tract infection, and familial factors.

Electroencephalographic and neuroradiological findings in adults with newly diagnosed unprovoked seizures.

Adult persons, 17 years old or older, with newly diagnosed (incident) epileptic seizures were prospectively identified in a community-based study. Electroencephalographic (EEG) recordings when awake and/or during sleep were performed in 103 persons (96.3%). Epileptiform activity was recorded during wakefulness in 18 of 101 persons (18%) and during sleep in another 11 persons (10.7%) of whom 10 had no epileptiform activity on wake EEGs. Pathological findings on EEGs recorded during sleep or when awake were more common in persons with partial seizures than in those with primary generalized tonic-clonic seizures. EEG recording during sleep significantly increased the proportion of pathological findings in partial seizures compared with other seizure types. 45 persons (42.1%) were neuroradiologically investigated by both computerized tomography (CT) and magnetic resonance imaging (MRI) using a low-field-strength imager (0.02 tesla). 2 persons with normal CT had pathological findings on MRI. 4 persons with normal MRI had pathological findings on CT.

Recovery from symptoms after carpal tunnel syndrome surgery in males in relation to vibration exposure.

A follow-up study was conducted in forty-one men (fifty-five hands) treated surgically for carpal tunnel syndrome. The number of hours of vibration exposure and exactly which hand tool was used were recorded and each tool was categorized according to vibration level. The patients were divided into a low exposure and a high exposure group. Age at surgery, mean distal latency in the median nerve, and the duration between onset of symptoms and surgery were similar for the two groups. Only one patient experienced nocturnal paresthesia at follow-up in the low exposure group in contrast to twelve in the high exposure group. This corresponded to an age-standardized odds ratio (relative risk) of eighteen for nocturnal paresthesia after surgery in the high exposure group, with the low exposure group as referents. Previous vibration exposure may influence the recovery after carpal tunnel surgery.

Barbiturate effects on EEG abnormality in complex partial epilepsy.

Sixteen patients with drug-resistant complex partial epilepsy were, during preoperative investigations for surgical treatment, subjected to intravenous methohexital and amobarbital EEG activation tests. The interictal epileptic spike discharges were visually counted on the seizure-generating side and compared with those found in the contralateral hemisphere. The invasive recordings were made with depth electrodes implanted in the mesial temporal lobes of 5 patients, and with subdural strip electrodes in varying lateral positions over the frontotemporal-parietal lobes of the other 11 patients. The doses of 10% amobarbital, 50-200 mg, were too low to induce any significant activation. In eight patients with unilateral epileptic lesions, 10, 25 and 50 mg 1% methohexital, induced a dose-dependent increase in the interictal spiking, always higher on the side of the seizure-gererating focus. Asymmetric induction of beta activity was noted in five patients. The test gave valuable information when determining the type or location of the epileptic abnormality. Parallels were drawn with earlier studies on spike-activation tests after intracarotid amobarbital injections. Although administered differently, the barbiturates are supposed to act directly on the neurons, and not via integrative wakening mechanisms.

Indirect injury to cranial nerves after surgery with Cavitron ultrasonic surgical aspirator (CUSA). Case report.

The Cavitron ultrasonic surgical aspirator (CUSA) was used in a patient with an acoustic nerve tumour. After surgery she presented unilateral palsies of several cranial nerves. The nerve injuries were most likely induced by ultrasonic energy transmitted from the CUSA via the petrous bone. We suggest that when the CUSA is used in such operations care should be taken to avoid contact between the vibrating probe of the CUSA and the petrous bone.

Intracranially recorded compound action potentials from the human trigeminal nerve.

Potentials from the sensory root of the trigeminal nerve in the cerebello-pontine angle, evoked by electrical stimulation of the different trigeminal divisions, were recorded during neurosurgical operations. Two components of the compound action potential could be distinguished: one early with large amplitude and one late with small amplitude. It is concluded that the two components represent activity in A alpha and A delta fibers respectively.

Evaluation of treatment in typical absence seizures. The roles of long-term EEG monitoring and ethosuximide.

Eleven children with typical absence seizures were studied clinically and by repeated 24-h EEGs with portable cassette tape recorder before and during anticonvulsant treatment. The history, the observation of seizures and the amount of spike-and-wave activity (episodes greater than 3 sec) were studied in relation to the plasma levels. The EEG revealed spike-and-wave episodes, considered as seizures, in a higher frequency than the number of absences reported by the parents. Twenty-four hour EEG recording was however not superior to long term observation by relatives in establishing freedom from absences. The drug primary used was ethosuximide. Eight of eleven children responded completely on this drug, i.e. no absences observed and EEG was normalized. Of two children in whom the therapy was changed to sodium valproate, one responded completely and one partly. The relation between the ethosuximide dosage given and the plasma concentration level was good. Two cases responded at low plasma levels (less than 200 mumol/l). Tonic-clonic seizures occurred in 3/11 children.

Malignant thyroid tumors at autopsy in a Swedish goitrous population.

In a series of 500 consecutive autopsies in a Swedish population with a high rate of goiter (29%) the incidence of malignant thyroid tumors was 6.0%. There were 25 papillary, 2 follicular, and 2 medullary carcinomas and 1 non-Hodgkin's lymphoma-immunocytoma. No significant differences in tumor incidence was found between goiter patients and those with normal glands. Notably the tumors occurred more often in men than in women (ratio, 1.5).

Effects of amobarbital and methohexital on epileptic activity in mesial temporal structures in epileptic patients. An EEG study with depth electrodes.

Bilateral intracarotidal Amytal (amobarbital) tests for evaluation of speech and memory function were performed during preoperative evaluation of 30 patients with drug-resistant epilepsy. In 8 of these patients (16 tests), having partial complex epilepsy, EEG was recorded with depth electrodes, implanted bilaterally in anterior mesial temporal structures. The EEGs during 13 tests could be quantified with regard to spike activity. A rapid increase in spike frequency was observed ipsilateral to the injection in all tests but one. No seizure activity or clinical seizures were provoked. This previously unnoticed effect of amobarbital could be due to a direct excitatory effect of the drug on epileptic temporal neurones or, alternatively, to a release of interictal inhibition, exerted upon these neurons by other structures. In 4 patients, the effect was compared with that of methohexital, another barbiturate known to have excitatory effects upon epileptic activity.

Effects of intravenous progesterone infusions on the epileptic discharge frequency in women with partial epilepsy.

Earlier work showed that in a group of women suffering from partial epilepsy, there is a decrease in seizure frequency during the luteal phase of the menstrual cycle. Moreover, iv progesterone infusions decrease the discharge frequency from penicillin epileptic foci in cats, when given in doses that reach plasma concentrations as observed during pregnancy. In the present study, iv progesterone infusions, reaching plasma concentrations as during the luteal phase, were given to 7 women with partial epilepsy. The inclusion criterion was that they should have more than one epileptic discharge per 5 min on an ordinary EEG . A 6 h EEG-registration was made. Blank and progesterone solutions were infused for 2 h respectively and the progesterone infusion was followed by a 2 h EEG recording period. 4 of the 7 patients showed a significant decrease in spike frequency during the infusion. In the patients not showing this effect, the plasma progesterone binding capacity was high. The 2 patients with the most marked progesterone effect had low progesterone binding capacity and no antiepileptic treatment. Somnolence during the test might also have influenced the results in 2 of the patients.

Preoperative irradiation of malignant melanoma. A multifactorial statistical analysis of survival.

This retrospective investigation concerns 212 cases of malignant melanoma from the period 1965 to 1979. Before operation 53 cases were given radiation therapy. The aim of the study was to assess whether this treatment had any influence on survival. Clinical follow-up and revision of the histologic material has been done. The tumours were classified according to CLARK et coll. (3) and divided into thickness groups (2). Statistical analysis by COX's regression model (4) indicated that survival was dependent on tumour thickness (significance level 1%) and preoperative irradiation (significance level 5%). No influence from tumour location was noted. A prospective randomized study is proposed in order to analyse the effect of preoperative irradiation.

Familial amyloidosis with polyneuropathy - type 1. A neurophysiological study of peripheral nerve function.

Twenty-four consecutive patients with familial amyloidosis with polyneuropathy (type 1), who were at different stages of the disease were investigated. The purpose was to report the electrophysiological features and to compare them with those found in other generalized neuropathies; 12 cases were familiar and 12 cases were sporadic. The diagnosis was confirmed by examining the occurrence of amyloid substance in rectal or skin biopsies or both. Single fiber EMG with fiber density determination showed signs of collateral innervation, prominent in advanced cases, and a disturbance of neuromuscular function similar to that of progressive spinal motorneuron disease. Action potentials from afferent fibers were not obtained in 91% of the nerves in the lower and 49% of the nerves in the upper extremities. When sensory or motor or slightly subnormal. The neurophysiological findings indicate a symmetrical axonal degeneration, starting in the legs. Familial amyloidosis with polyneuropathy should be suspected in cases of rapidly progressing polyneuropathy of axonal type with onset in middle age, irrespective of whether they are hereditary or not.

Lead in umbilical cord blood correlated with the blood lead of the mother in areas with low, medium or high atmospheric pollution.

Lead concentrations in 541 samples of umbilical cord blood from different parts of Sweden were determined. The mean concentration was 7.6 mug lead/100 ml (=0.367 mumol/l). The blood lead values were also determined for 297 mothers and a mean value of 8.7 mug/100 ml (=0.420 mumol/l) was found. There was a significant correlation between the blood lead level of the mother and the infant as studied in 253 pairs. The slope of the regression line was 0.5 r (r=0.6). Significantly lower blood values for both mother and infant were found in areas with low pollution as estimated from the lead content in moss. No seasonal variation could be ascertained. Hematocrit versus lead concentration was also studied. A flameless atomic absorption method was used with a standard deviation of 0.9 mug lead/100 ml. The storage time and sample treatment were also studied.

Studies on maturity in newborn infants. VIII. Alpha-foetoprotein and albumin.

Cord blood of 125 newborn infants of various gestational ages has been analysed for the amounts of alpha-foetoprotein and albumin using an electroimmunoassay. The quotient alpha-foetoprotein/birth weight was recorded as well. All the three measureements correlate fairly well with the gestational age of newborn infants. Measuring alpha-foetoprotein is not of the same value, however, in estimating gestational age as is the simple scoring of external characteristics.