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T Torbergsen

Publications and source records attributed to T Torbergsen.

At least 37 records · Page 2Linked to original sources
PubMed1994

Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. MATERIAL AND METHODS: Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. RESULTS: Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients with demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. CONCLUSION: We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.

Adolescent↗
PubMed1993

Non-convulsive status epilepticus in the adult mentally retarded. Classification and role of benzodiazepines.

Non-convulsive status epilepticus (NCS) is rarely encountered and may appear with a psychiatric mask. As clouding of consciousness is the major ictal manifestation, the condition may easily be overlooked in the mentally retarded. We have studied 11 mentally retarded patients with NCS. Since NCS with a focal onset may have a generalized ictal EEG pattern, a classification of NCS solely based on the seizure classification may be misleading. In some patients, it is impossible, both clinically and on the basis of EEG recordings, to distinguish between continuous complex partial seizures and atypical absences. We therefore propose a revised classification of NCS based on the ictal EEG pattern and the epilepsy syndrome diagnosis (I) NCS in generalized epilepsy syndromes, (II) NCS in localization-related epilepsy, (a) with localized EEG features, (b) with generalized EEG features, and (c) with transitional EEG features, and (III) undetermined NCS. Four of our patients were classified as Group I, two as Group IIa, one as Group IIb, one as Group IIc, and three as Group III. Benzodiazepines at small or standard doses may be ineffective in terminating NCS, particularly in the Lennox-Gastaut Syndrome. The identification of trigger factors is essential. Drugs seemed to be the most important precipitants in our patients; in three, NCS was induced by recurrent rectal diazepam over-administration. This complication of rectal diazepam treatment in epilepsy has not been addressed previously.

Adult↗
PubMed1993

Mitochondrial disease and reduced sperm motility.

Mitochondrial dysfunction reduces aerobic energy production and results in symptoms from various tissues, depending on metabolic demands. Mitochondrial adenosine triphosphate (ATP) is essential for sperm motility. Sperm motility was investigated in a patient with a mitochondrial disease caused by reduced activity of the mitochondrial enzyme complexes I and IV, and in two control subjects. Spermatozoa were cultured in media containing various energy substrates. Motility was judged by light microscopy, and ultrastructure by transmission electron microscopy. In the patient with mitochondrial disease, 12% of the spermatozoa were motile in the medium containing only glucose. There was a three-fold increase in motile spermatozoa when pyruvate and succinate were present together with glucose. In contrast, the spermatozoa of both control subjects had best motility in the presence of substrates for complex I, and no further increase was observed when succinate was added. Glucose and pyruvate enter the respiratory chain at complex I, and succinate at complex II. Electron microscopy of spermatozoa from the patient with mitochondrial disease revealed mitochondria with increased matrix, thickening of membranes, parallelization of cristae and lipid inclusions, which are characteristic findings in mitochondrial disorders. Abnormal mitochondria were also found in a spermatid, suggesting that the ultrastructural changes of mitochondria are primary rather than secondary to degeneration of the spermatozoa. The results indicate that mitochondrial dysfunction causes reduced sperm motility in some men.

Adenosine Triphosphate↗
PubMed1993

A controlled study of peripheral neuropathy in systemic lupus erythematosus.

In 34 patients with systemic lupus erythematosus (SLE) and 34 age- and sex-matched healthy controls we performed standardized quantifiable neurological testing for neuropathic symptoms (Neuropathic Symptom Score) and deficits (Neurological Disability Score), as well as nerve conduction velocity studies (NCV) and determination of vibration thresholds (VT). SLE patients had more neuropathic symptoms and deficits than controls. Most quantitative and qualitative NCV attributes showed no difference between patients and controls. However, if categorized as NCV abnormalities of 2 or more nerves in each individual, a frequency of polyneuropathy of 21% was seen in SLE patients compared to 6% in controls. VT indicated a slight, but widespread, diffuse polyneuropathy in patients compared to controls.

Adolescent↗
PubMed1991

[Mitochondrial diseases. Diagnostic light and electron microscopic changes in muscle biopsies from patients with mitochondrial myopathy].

Mitochondrial myopathy can be caused by several metabolic defects in the mitochondria. Cells with high levels of oxidative metabolism, such as skeletal muscle, myocardium and brain cells, are particularly vulnerable to these defects. We describe the structural changes in muscle biopsies from 49 patients with mitochondrial myopathy. The younger patients were often symptom-free, but the possibility of a genetic defect was suggested by the family history. "Ragged-red fibres" were found in 10% of the biopsies. Typical paracrystalline inclusions were seen in the mitochondria of the oldest patients. Electron-lucent matrix and increased thickness of the inner membranes of the mitochondria in particular were found in the younger patients. Disorganization of cristae, with cristolysis and unfolding of the cristae was also found. We suggest that structural mitochondrial changes in mitochondrial myopathy constitute a stepwise process and that the mitochondrial alterations of the cristae may represent an early stage in the morphogenesis of mitochondrial disease.

Age Factors↗
PubMed1991

Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies.

Thirteen patients with mitochondrial cytopathy were investigated. They represent different generations, ages, stages, and severities of the disease. All were assumed to have the same metabolic defect. The disease is a multisystem disorder with a metabolic defect located at complex 1 in the respiratory chain. Clinically, the disorder gives symptoms such as hearing loss, retinal pigmental degeneration, ataxia, cardiomyopathy, muscular fatiguability and neuropathy. The patients were investigated with nerve conduction studies, concentric needle EMG, SFEMG, and macro EMG examinations. Neurophysiologic studies revealed signs of myopathy in both the younger members and in those with slight muscular symptoms. In the more advanced stages, neuropathic changes of the axonal type were seen as well. Macro EMG was interpreted as indicating muscle fiber membrane abnormalities in the early stages. Single fiber EMG studies indicate that this metabolic defect does not disturb neuromuscular transmission.

Adult↗
PubMed1991

Mitochondrial myopathy in Marinesco-Sjögren syndrome.

Myopathy represents one of the major features of Marinesco-Sjögren syndrome (MSS). Seven patients with MSS from three different families were studied with morphological and neurophysiological methods. In two patients ragged-red fibres were found after Gomori trichrome staining. Transmission electron microscopy (EM) showed that subsarcolemmal accumulation of abnormal mitochondria regularly occurred and in one patient paracrystalline inclusion bodies were found. The EMG showed myopathic changes while the nerve condition velocities were normal. A delayed normalization of exercised-induced hyperlactatemia was noted. These findings show that mitochondrial myopathic changes are present in MSS.

Adolescent↗
PubMed1991

Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study.

Electrophysiological studies were performed in 7 patients with Marinesco-Sjögren syndrome in order to search for neuromuscular involvement in this multiorgan disorder. In 6 patients muscle biopsies were also obtained. Light microscopic examinations of the biopsies showed extensive myopathic changes, and in two patients ragged red fibers were found. Electron microscopy showed subsarcolemmal accumulation of abnormal mitochondria in all. Concentric needle EMG revealed unequivocal myopathic changes, more extensive in the anterior tibial than in the biceps brachii muscle. Motor and sensory conduction velocities in the peripheral nerves were normal. There were remarkably high amplitudes of sensory responses. Macro EMG studies in the biceps brachii muscle in four patients showed increased amplitude and area of the macro MUPs. This may be due to abnormal membrane function. Both electrophysiological and morphological findings confirm myopathic features of Marinesco-Sjögren syndrome.

Adolescent↗
PubMed1991

Epilepsy in a mitochondrial disorder.

In a large family with maternally inherited mitochondrial disease, a mild defect in the NADH-ubiquinone oxidoreductase step (complex 1) in the respiratory chain was found. Epilepsy was seen in nine (22%) of the 37 family members. Five of them, belonging to one branch of the family, had myoclonus epilepsy and EEG abnormalities consistent with this. The remaining four patients, belonging to other branches of the family tree, had partial epilepsy. Neurological symptoms also varied in different parts of the family. Possible explanations for the differences in phenotypic expressions are discussed.

Adolescent↗
PubMed1991

Audiologic findings in a family with mitochondrial disorder.

Mitochondrial disorder is an inborn error of metabolism affecting the cellular respiratory chain. Defective energy production leads to a wide variety of clinical manifestations (ataxia, epilepsy, dementia, myopathy, polyneuropathy, retinal pigment anomalies, and cardiomyopathy with conduction anomalies). Hearing loss is a regular feature and is often the first clinical symptom. Audiologic data from 26 members of a family in three generations is presented. One of these patients was examined for the biochemical error. Respiratory study of muscle biopsy revealed a mild defect in the NADH-ubiquinone oxidoreductase step of the oxidative phosphorylation (complex I). The content of cytochrome aa3 (complex IV) was also reduced. Adult onset sensorineural hearing loss starting in the high frequency region progresses with a fairly constant speed in this family. A cochlear type of hearing loss is found in the less pronounced cases. Advanced cases present features of retrocochlear affection with decreasing speech recognition, elevated acoustic reflex thresholds, and increased ABR latency with derangement of potentials. Caloric sensitivity was unaffected.

Adolescent↗
PubMed1990

Early mitochondrial changes in chronic progressive ocular myopathy.

Two sisters with chronic progressive external ophthalmoplegia (CPEO) and their in all 7 healthy children were investigated. Both ophthalmoplegic patients had histopathological changes typical of mitochondrial myopathy. The same type of muscular pathology was also found among the healthy children. The most common muscular changes were subsarcolemmal accumulation of pathological mitochondria, including vacuoles, abnormal cristae and sometimes also inclusion bodies. Biochemical studies showed partial complex III deficiency, with low succinate-cytochrome c reductase activity in 1 of the ophthalmoplegic patients. These findings suggest that CPEO is a slowly progressive muscle disease, starting early in life. The widespread occurrence among the children may indicate maternal inheritance.

Adolescent↗
PubMed1989

Pre-eclampsia--a mitochondrial disease?

Mitochondrial dysfunction is a newly found group of inborn errors of metabolism in which there is a failure in the aerobic energy production. Disorders of mitochondrial metabolism exhibit a wide range of clinical symptoms which are related to the nature, severity and tissue distribution of the metabolic defect. Most reported cases are published in the neurological literature. In this report we describe for the first time a family with mitochondrial dysfunction with a high incidence of pre-eclampsia/eclampsia. The diagnosis of a mitochondrial disorder is verified by electronmicroscopic, electromyographic, histochemical and biochemical examinations. During pregnancy, the energy demand is increased due to both fetal and maternal requirements. A mitochondrial dysfunction, clinically symptomless in the non-pregnant state, may therefore become manifest during pregnancy. Characteristic features of pre-eclampsia such as disturbed ion transport, disturbed prostaglandin synthesis, vasoconstriction, platelet aggregation and hyperuricemia may be explained by mitochondrial dysfunction.

Adult↗
PubMed1978

Unusual response to extradural analgesia in the presence of an intradural spinal tumour.

A patient is presented in whom indications of the presence of an intradural, extramedullary tumour became apparent during the induction of an extradural block. It is suggested that a combination of signs should arouse suspicions of such a tumour close to the puncture site. Pain within an area covered by an extradural block does not indicate necessarily a supraspinal cause for the pain.

Anesthesia, Epidural↗
PubMed1975

A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen.

Myotonia is a symptom, which occurs in a series of hereditary diseases, and it is also seen in less frequently occurring syndromes. A summary is given of conditions with myotonia. Five cases are reported from a family with a dominant hereditary disease presenting myotonia, muscular hypertrophy and increased muscle irritability as the only symptoms. In the most affected patient, some unusual rolling muscle contractions are seen. Apart from a moderate increase of creatin kinase, supplementary examinations are normal. The clinical picture resembles myotonia congenita Thomsen, but differs from this in significant respects. Other diagnostic possibilities are also considered. It is concluded that the clinical picture is different from all previously described conditions.

Adolescent↗