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Biomedical subjects

O Eeg-Olofsson

Publications and source records attributed to O Eeg-Olofsson.

At least 19 recordsLinked to original sources
PubMed2000

D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.

D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process.

Adolescent↗
PubMed1999

Medical technology assessment photic stimulation--standardization of screening methods.

RATIONALE: In many EEG laboratories in Europe, intermittent photic stimulation (IPS) is not performed routinely, and consequently, great variation exists in the type of photo stimulator used, the methodology employed, and the interpretation of the EEG curves, thus leading to different outcomes. METHODOLOGY: It was decided to hold a consensus meeting with experts in the field of photic stimulation from various European countries. This meeting was held at the Stichting Epilepsie Instellingen Nederland, Heemstede, the Netherlands. The consensus reached was presented and discussed at the 9th European Congress of Clinical Neurophysiology in Ljubjana in June 1998. RESULTS: Patients should be positioned at a distance of 30 cm from the photic stimulator (nasion to lamp) with dim surrounding lights, just enough to see the patient. Flashes should be delivered in separate trains of 10 s for each frequency, with intervals of 7 s minimum. First stimulation occurs with eyes open followed after 5 s by eye closure, while starting at 1 Hz progressing to 20 Hz, unless generalised epileptiform discharges are evoked at a lower frequency. Then, frequencies should start at 60 Hz decreasing to 25 Hz. The following frequencies should be used: 1, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 60, 50, 40, 30 and 25 Hz. The total duration is a maximum of 6 min (patients without a reaction to IPS). In interpreting the evoked responses, a clear distinction should be made between epileptiform responses confined to the occipital area (OSW), starting occipitally and spreading to frontal regions (OGSW), or generalised from the start (GSW). Other responses include generalised spikes (OR). CONCLUSION: This standard is safe, relatively quick, simple and reliable. Comparison of data within patients and between patients of various laboratories will also be possible. This will improve the quality of the care of the individual patient and make collaborative research possible.

Electroencephalography↗
PubMed1999

Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes.

Benign childhood epilepsy with centrotemporal spikes (BCECTS) is a well-known idiopathic age- and localization-related epileptic syndrome with characteristic clinical and EEG manifestations. Due to the reported benign evolution of this epilepsy syndrome, neuropsychological assessment has been considered unnecessary. However, the benign nature of BCECTS has recently been challenged: verbal dysfunction as well as impaired visuomotor coordination, specific learning disabilities, and attention deficit have been noticed. These findings prompted this research study in which all children with BCECTS attending our epilepsy clinic underwent neuropsychological assessment. Seventeen children (10 boys and seven girls) aged 7 to 14 years were investigated with a neuropsychological test battery focusing on immediate and delayed recall of auditory-verbal and visual material, verbal fluency, problem-solving ability, and visuospatial constructional ability. Raven's coloured matrices and questionnaires regarding school functioning and behaviour were also administered. The children were matched with control subjects for age, sex, and school. Children with BCECTS had significantly lower scores than their control subject partners on the neuropsychological items. Intellectual abilities did not differ and neither did school functioning or behaviour according to teachers. Parents, however, recognized greater difficulties with concentration, temperament, and impulsiveness in children with BCECTS.

Achievement↗
PubMed1999

D-2-hydroxyglutaric aciduria: further clinical delineation.

It has recently been recognized that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with a severe and a mild phenotype. Whereas the clinical and neuroimaging findings of the severe phenotype were homogeneous among the patients, the findings in the mild phenotype were much more variable, leaving the clinical picture poorly defined. We were able to collect the clinical, biochemical and neuroimaging data on an additional 8 patients with D-2-hydroxyglutaric aciduria, 4 with the severe and 4 with the mild phenotype. With the new information, it becomes clear that the mild phenotype shares the essential characteristics of the severe phenotype. The most frequent findings, regardless of the clinical phenotype, are epilepsy, hypotonia and psychomotor retardation. Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal. Regardless of the clinical phenotype, early MRI shows in addition subependymal cysts and signs of delayed cerebral maturation. Later MRI may reveal multifocal cerebral white-matter abnormalities. Two patients had vascular abnormalities, but it is as yet unclear whether these are related to D-2-hydroxyglutaric aciduria or are incidental findings.

Brain↗
PubMed1999

Hippocampal asymmetries and white matter abnormalities on MRI in benign childhood epilepsy with centrotemporal spikes.

PURPOSE: To look for brain abnormalities by using magnetic resonance imaging (MRI) in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS), which is the most common epilepsy syndrome in children. METHODS: Eighteen children, aged 6-12 years, with typical BCECTS were examined with MRI, six of them twice. RESULTS: Some hippocampal abnormality was found in six (33%) of the children, all with the syndrome's typical electroencephalogram (EEG) pattern ipsilaterally. Hippocampal size asymmetry was found in five (28%) children (right side < left in two and left < right in three), and high signal intensities on T2-weighted images were found in three (17%). Two children also had other abnormalities; one had a heterotopic nodule near the contralateral frontal horn, and one had an Arnold-Chiari malformation. The hippocampal asymmetry remained unchanged in three of the children who were reexamined after 2 years. High signal intensities on T2-weighted images were seen beneath the cortex-white matter junction in the frontal and temporal lobes of five (28%) children, one of whom also had a hippocampal asymmetry. MRIs were normal in eight (44%) children. CONCLUSION: For the first time, hippocampal asymmetries and white-matter abnormalities have been detectable on the MRIs of children with typical BCECTS. The etiology of the former is unclear, whereas the latter may be a result of a maturational delay involving a defective myelination. Long-term follow-up studies are needed to evaluate the relation between these findings and the clinical course of BCECTS.

Cerebral Cortex↗
PubMed1998

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a recently identified partial epilepsy in which two different mutations have been described in the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4). An additional seven families are presented in which ADNFLE is unlinked to the CHRNA4 region on chromosome 20q13.2. Seven additional sporadic cases showed no evidence of defective CHRNA4. One of the families showed evidence of linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster (maximum LOD score of 3.01 with D15S152). Recombination between ADNFLE and CHRNA4, linkage to 15q24 in one family, and exclusion from 15q24 and 20q13.2 in others demonstrate genetic heterogeneity with at least three different genes for ADNFLE. The CHRNA4 gene and the two known CHRNA4 mutations are responsible for only a minority of ADNFLE. Although the ADNFLE phenotype is clinically homogeneous, there appear to be a variety of molecular defects responsible for this disorder, which will provide a challenge to the understanding of the basic mechanism of epileptogenesis.

Chromosome Mapping↗
PubMed1998

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

OBJECTIVE: To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). BACKGROUND: BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (AChR) have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy, which, like BECTS, is an idiopathic partial epilepsy. METHODS: A DNA linkage study was conducted screening all chromosomal regions known to harbor neuronal nicotinic AChR subunit genes. Twenty-two nuclear families with BECTS were analyzed. RESULTS: In an "affected-only" study, best p values and lod scores were reached between D15S165 and D15S1010 on chromosome 15q14. In multipoint nonparametric linkage analysis a nominal p value of 0.000494 was calculated by GENEHUNTER. Best parametric results were obtained under an autosomal recessive model with heterogeneity (multipoint lod score 3.56 with 70% of families linked to the locus). These markers are localized in direct vicinity to the alpha 7 subunit gene of the AChR. CONCLUSIONS: We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.

Adolescent↗
PubMed1997

[Moyamoya disease. A rare case of stroke in children?].

Moyamoya disease is a rare cerebrovascular disease with a wide variety of clinical outcomes. The main signs of the disease are progressive occlusion of the main intracerebral arteries and development of a special network of collateral vessels, Symptomatology can be intermittent, with light neurologic symptoms, or the disease can progress step-wise, with eventual physical and mental deterioration. Several operative methods have been evolved to improve cerebral bloodflow in this disease. We describe three children with Moyamoya disease. Two of them were the first patients offered operation for their disease in Norway. The article describes diagnostic measures, possible pathogenic mechanisms, and treatment.

Adolescent↗
PubMed1995

Epilepsy etiology with special emphasis on immune dysfunction and neurovirology.

The etiology of epilepsy remains in most cases an enigma. Based on the finding of a genetically dependent immune dysfunction in focal epilepsies, brain specimens from 16 patients, ranging in age from 6 to 39 years and operated on for therapy-resistant focal, mainly temporal lobe epilepsy were analyzed for the presence of viral DNA. The PCR technique was used for detection of viral DNA from the herpes virus group. HSV-1 was found in 44% CMV in 50%, and HHV-6 in 25%. Three patients were positive for more than one of these viruses. The control material, consisting of only 4 brain tissue samples, showed DNA from HSV-1 in one case. Until more brain samples from controls have been examined, caution must be taken before a viral etiology is applied to focal epilepsy.

Adolescent↗
PubMed1995

Epidemiology of infantile spasms in Sweden.

We performed a retrospective study of infantile spasms (IS) in 57 children (19 girls and 38 boys) from the east-central region of Sweden for the period 1987-1991. The incidence was 0.45/1,000 newborns a year, with a spread of 0.17-0.76 between the seven counties included. Forty-three cases (75%) were symptomatic and 14 (25%) were idiopathic. Cerebral malformations were diagnosed in 8 children, and chromosomal aberrations were diagnosed in 5. In addition, 2 children each were diagnosed as having tuberous sclerosis and neurofibromatosis. At follow-up, 57% in the idiopathic group had normal development, whereas 91% in the symptomatic group had died or developed a multihandicap. The value of modern neuroradiological techniques for etiological diagnosis is stressed.

Brain↗
PubMed1994

Acute postasthmatic amyotrophy (Hopkins' syndrome).

Acute postasthmatic amyotrophy is a rare condition, previously reported in only 26 cases. It is characterized by a sudden onset of a flaccid paralysis of an arm or a leg with completely preserved sensibility, about 1 week after an asthmatic attack. The cause is probably due to a lesion of the anterior horn of the spinal cord, but evidence indicates a more widespread pathological process. The etiology is unknown, but infectious or immunological mechanisms are likely.

Action Potentials↗
PubMed1994

Neuro-ophthalmic manifestations of the syndrome of ophthalmoplegia, ataxia and areflexia. Observations on 20 patients.

The neuro-ophthalmological manifestations of 20 patients with the syndrome of ophthalmoplegia, ataxia and areflexia are described. The symmetrical nature of the ophthalmoplegia and the associated cerebellar ataxia point to centrally placed lesions. Several supranuclear, nuclear and internuclear ophthalmological signs are identified. Some of these, like partial sparing of the levator palpebrae and normal downgaze in the presence of severe ophthalmoplegia are noted too frequently to be just unusual signs of peripheral oculomotor dysfunction. Other identified features included upper lid retraction on attempted upgaze and preserved Bell's phenomenon in the presence of paralysis of the latter, as well as several other central ophthalmological signs. These findings contrast with those seen in the Guillain-Barré syndrome and, thus, the syndrome of ophthalmoplegia, ataxia and areflexia is not a mere variant of it.

Adolescent↗
PubMed1994

Neuro-ophthalmic manifestations of the syndrome of ophthalmoplegia, ataxia and areflexia: a review.

Controversy regarding the nosological position of the syndrome of ophthalmoplegia, ataxia and areflexia (Miller Fisher syndrome) exists. The oculomotor dysfunction was presumed to represent an unusually symmetrical peripheral cranial nerve dysfunction. To investigate the neuro-ophthalmic manifestations in this rare syndrome we reviewed 109 reports describing 243 cases. The ophthalmoplegia was remarkable in its constant association with a cerebellar type ataxia. It was described to be remarkably symmetrical at all stages of development and recovery. From the early description of the syndrome by Fisher the ophthalmoplegia was observed to evolve as a symmetrical failure of upgaze followed by loss of lateral gaze and last by downgaze, recovery develops in the opposite pattern. Despite the severe nature of the ophthalmoplegia, 58 patients were reported to have sparing of downgaze and 192 (79%) had relative sparing of the eye lids. Active lid retraction and preserved Bell's phenomenon, despite upgaze paralysis, were described in 22 and 15 patients respectively. Upper lid jerks were described in 2, Parinaud's syndrome in 2, convergence spasm in 6, internuclear ophthalmoplegia in 15 and horizontal dissociated nystagmus in 11. Interestingly 23 were reported to present with paralysis of abduction progressing to lateral gaze paralysis and 5 had paralysis of abduction and contralateral gaze paralysis. Four had defective vestibulo-ocular reflex despite recovery of upgaze, 10 had central type nystagmus including rotatory, retractory and rebound nystagmus. Relative preservation of optokinetic nystagmus and preservation of vestibulo-ocular reflex despite an otherwise complete ophthalmoplegia were reported in 6 and 2 patients respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Blepharoptosis↗
PubMed1994

Endovascular treatment of a spinal arteriovenous malformation in a 21-month-old boy.

Reports of spinal arteriovenous malformations in children are rare. This case report describes a 21-month-old boy whose first symptom was attacks of abdominal pain, followed gradually by neurological symptoms. The diagnosis was made using magnetic resonance imaging and spinal angiography, and the patient was successfully treated with embolization.

Aortography↗