Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located myonuclei in a large number of muscle fibers. Recently, different missense mutations in the dynamin 2 gene (DNM2, 19p13.2) have been shown to cause autosomal dominant CNM. We re-evaluated patients with a histopathological diagnosis of CNM and report on the clinical phenotype, the biopsy findings and the genetic results of these patients and review the current literature. Two of the three patients showed an unusually late disease onset (> 40 years). Interestingly, intramuscular nerve fascicles found in the muscle biopsy of a patient harboring the E368K DNM2 mutation contained nerve fibers with disproportionately thin myelin sheaths. Schwann cells of unmyelinated nerve fibers showed abnormal plasma membrane and basal lamina protrusions, indicating peripheral nerve involvement.

Continuous multivariable monitoring in neurological intensive care patients--preliminary reports on four cases.

Evoked potential monitoring is a standard examination method in neurological intensive therapy units. Previously, multimodality observation was only possible in follow-up examinations. First experience with a new bed-side system continuously monitoring 12 neurophysiological and clinical parameters is reported. It consists of a personal computer and various stimulation units. EEG activity, median nerve somatosensory evoked potentials (SEPs) and brainstem auditory evoked potential (BAEPs) are recorded. Additionally, EEG spectral band power, heart rate, heart rate variability, intracranial pressure, body temperature, expiratory PCO2, blood pressure and transcutaneously measured oxygenation can be monitored. This paper reports on 4 exemplary cases of the 33 patients we have monitored to date, illustrating the principles and main advantages of the system. The system was developed to support the observation of ICU patients as well as to aid therapeutic decisions. It supports the clinical determination of brain death by specifying the deterioration of various neurological systems.

Electromyogram and nerve conduction in patients with acute intermittent porphyria.

Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomena. The neuropsychiatric symptomatology of AIP consists of neuropathy, vegetative crises and exogenous psychoses. In this study electromyographic and neurographic investigations were performed on 20 persons with AIP. 16 patients had experienced attacks of AIP, 10 of them including neuropathy. 4 persons showed the biochemical findings of AIP but had not yet had symptoms. In cases with persistent pareses following porphyric neuropathy denervation signs or sequelae were still present. In patients without clinical symptoms and in latent cases there were normal or borderline findings. Motor nerve conduction velocity was mostly decreased in combination with denervation signs and in a range that indicated a primarily axonal nerve lesion and consequent myelin damage rather than primary demyelinization. The mean motor conduction velocity of n. tibialis was somewhat lower in patients with porphyric crises without neuropathy than in latent cases without any clinical crises. The differences were not significant in other nerves. The findings are discussed under consideration of the electrodiagnostic results of other investigations and of neuropathological and clinical data.

Zieve's syndrome and intracranial haemorrhage: coincidence or related disorders.

Zieve's syndrome (hyperlipidaemia, anaemia and fatty liver degeneration) may rarely occur with intracranial haemorrhage. Four patients suffering from both diseases are reported. Although it remains unclear whether there is a causal relationship between the two, it seems that hyperlipidaemia may be a major cause of intracranial bleeding. One reason for the small number of reported cases may be that hyperlipidaemic serum levels rapidly decrease after alcohol withdrawal.

CT, MRI and SPECT neuroimaging in status epilepticus with simple partial and complex partial seizures: case report.

A 35-year-old female patient suffering from epilepsy was examined during status epilepticus with simple partial and complex partial seizures by means of EEG, CT, MRI and ictal SPECT. All these examinations showed focal abnormalities with identical location due to oedema and hypervascularisation; these were, however, absent during examinations carried out before and after status epilepticus.

Progression of optic neuritis to multiple sclerosis: an 8-year follow-up study.

OBJECTIVE: The relationship between acute monosymptomatic optic neuritis (AON) and subsequent multiple sclerosis (MS) is still doubtful. We investigated the risk of developing MS in patients from North Bavaria, who were suffering from AON. PATIENTS/METHODS: Twenty-nine patients with clinical evidence of AON were included in the study. Initial evaluation included brain resonance imaging (MRI) and a clinical neurological examination. Follow-up examinations were performed after 72-108 months (mean: 96 months) in 26 patients (three patients were lost to follow-up) and consisted of a second complete neurological examination. Diagnosis of MS was established according to the criteria of Poser CM, Paty DW, Scheinberg L. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983:13:227-231. RESULTS: At follow-up, 14 of 26 patients (54%) had converted to clinically definite MS. Nine patients (64%) had developed MS within 2 years after the onset of AON. CONCLUSION: We observed the development of MS in 54% of the 26 investigated AON patients. The exceptional feature of the present study was the relatively long follow-up period of 8 years.

[Malignant neuroleptic syndrome associated with amisulpride]. / Malignes neuroleptisches Syndrom durch Amisulprid.

Malignant neuroleptic syndrome (MNS) is a rare side effect of antipsychotic medications but means a serious and life-threatening complication. The risk of MNS seems to be lower for second generation antipsychotics (SGA). We report the 9-month history of a 42-year-old female patient whose antipsychotic medication was switched to 800 mg per day of amisulpride. Two weeks after discharge she suffered muscular pain, stiffness, weakness of the legs, rigor, and fever. After attending our outpatient department and being diagnosed, she was transferred to the neurological intensive unit, where the creatine kinase (CK) level was measured at 160,000 U/l. Furthermore extensive rhabdomyolysis accompanied by a compartment syndrome was seen. Surgical intervention was necessary for the latter. The patient was then retransferred to the psychiatric department after treatment with lorazepam and withdrawal of antipsychotic medications. In addition a therapy with valproate sodium was conducted. Long-term high levels of CK and abnormalities in the electromyogram led to the hypothesis of myopathy as a possible risk factor, but a final diagnostic classification was not feasible. This report describes the appearance of a MNS as a consequence of SGA therapy, discusses risk factors and therapy options, and shows the 9-month course.

[Conservative treatment of peripheral nerve lesions]. / Konservative Behandlung peripherer Nervenschäden.

Conservative treatment for cases of peripheral nerve damage may be subdivided into electrotherapy, positioning on splints and active as well as passive physiotherapy. Electrotherapy is generally carried out with exponential current which makes selective stimulation of the paralyzed muscles possible without stimulation of sensory fibres. The adjustment of the stimulation parameters, duration of stimulus and pause, gradient and stimulus intensity to the conditions of stimulation for each case is possible by determining the most favorable pulse duration. Successful electrotherapy depends upon an early beginning, the selective stimulation of the paralyzed muscles with exponential current at a sufficiently high intensity under isometric conditions and by avoiding overstretching of the muscles. Positioning of the extremities on splints in a functional position of the joints prevents overstretching of paralyzed muscles and thus contractures. Passive physiotherapy is indicated for the prevention or mobilisation of joint contractures. Active physiotherapy stimulates the regeneration of motor nerve fibres. The aim is a reintegration of the paralyzed muscles with the mobile muscles. Here the training of intact synergists, the innervation of antagonists and the activation of symmetrical healthy muscles of the contralateral extremity should be considered. The treatment of single nerve lesions with vitamin B does not appear reasonable.

[Disturbances of orientation with functional psychoses (author's transl)]. / Orientierungsstörungen bei Funktionspsychosen

It was supposed by clinical impressions that disturbances of orientation do not appear only in severe degrees of a transit-syndrome, but also in the light stadium of such a physically founded psychosis. In order to verify these impressions, a questionnaire was developed which permitted an objective scoring. This Q-Test consists of 37 questions (items), which measure the orientations of time, space, situation, and person. On the base of this questionnaire two samples were tested, the one consisting of 50 patients with functional psychoses (reversible physically founded psychoses), the other consisting of 50 patients with only neurological disturbances. The degree of the functional psychoses was determined by the "Syndrome-Test" (F. Bocker, 1959). The range of the scores corresponded with the clinical categories from a low degree of the transit-syndrome to a medium degree of disturbances of consciousness. The scoring was based on an standard system derived from the results of the control group (patients with only neurological disturbances). The clinical impressions could be verified by empirical and statistical methods. According to the test results, disturbances of orientation already appear during the light stadium of the transit-syndrome. Furthermore there is a high significant correlation (p. less than 001) between the degree of the functional psychoses and the degree of the disturbances of orientation. This applies to all categories of orientation. The orientation concerning time, space and situation proved to be more susceptible to disturbances than the orientation concerning the person. The very close correlation between the degrees of the functional psychoses and the degrees of the disturbances of orientation make it possible to determine the stadium of the functional psychoses promptly. The complete and very handy "short-time-test" will be published in a special paper.

[Origin and treatment of the hypokalemic paresis (author's transl)]. / Herkunft und Therapie der hypokaliämischen Lähmung

The abuse of laxatives and a prolonged treatment with diuretics has to be brought into consideration as the most common cause for renal or intestinal loss of potassium. Besides characteristical alterations at the E.C.G. and besides intestinal disturbances there do occur again and again acute, life-threatening aspects of cases connected with tetraplegias and a respiratory failure. By means of 3 cases from our hospital and 27 casuistics in literature symptomatology and dynamic in the development of hypokaliemia is discussed. The mean of potassium in the serum of the 16 patients, those having quadriplegias, ran up to 1,7 mval/l (range 1,4-2,5). Paralysis develops peracutely in 4 of the cases within hours and in 12 of the cases within days. In the anamnesis symptoms of adynamia could be traced with nearly every patient. A functional psychosis (reversible physically founded psychosis) couldn't be detected in any of the cases. With the help of a administration of potassium one could achieve a total retrogression of the symptoms. Besides this a normalisation of the acide-base equilibrium is required because of a metabolic alkalosis, detectable in most of the cases.

[Single-fiber electromyography, examination technic and findings]. / Die Einzelfasermyographie, Untersuchungstechnik und Befunde.

Single-fibre electromyography has become much easier because of the advantages offered by modern computerised EMG equipment. Fibre density, jitter and the frequency of blockings can thus be examined with relative reliability. The technique allows a sensitive diagnosis of disturbances of neuromuscular stimulus transmission. Furthermore, different pathological results obtained in patients suffering from neuropathies or myopathies (12 controls, 65 patients) proved the diagnostic value of single-fibre EMG. The method is a valuable addition to conventional EMG. The examination technique is described and illustrated by various examples.

[The "locked-in" syndrome: pseudocoma in thrombosis of the basilar artery (author's transl)]. / Das "Locked-in"-Syndrom: Pseudokoma bei Basilaristhrombose

In pontine lesions with tetraplegia and cranial-nerve disturbances--including trismus--and with speech disability paralytic akinesia and loss of reactivity may be misinterpreted as coma. "Pseudocoma" of this kind may be associated with normal consciousness or relatively mild psychological disorders. This explains the discrepancy between a normal EEG (only minor abnormalities) and presumed unconsciousness. The term "locked-in" expresses the patient's inability to communicate. In typical cases there may be only vertical eye movements and blinking. Using remaining innervation facilities, those examining and treating the patient must try to communicate with him. The locked-in state may be mistaken for coma particularly if there had been a preceding episode of unconsciousness. Moreover, the "locked-in" syndrome often passes into a state of unconsciousness or coma. The degree of communication can markedly differ from hour to hour. Most of the cases of this syndrome are caused by basilar artery thrombosis.

[Tracheotomy or intubation? Problems with long-term intensive care patients]. / Tracheotomie oder Intubation? Probleme mit Langzeit-Intensivpatienten.

Three groups of probands were established among 77 long-term intensive care patients. Group I comprised cases intubated for more than 7 days, group II underwent tracheotomy after a variable time of intubation, and group III were tracheotomised immediately. All complications were severalfold more frequent in patients with hypercatabolic underlying disease than in those with less severe underlying disease. Long-term intubation led generally to laryngeal damage after one week and increased frequency of pneumonia after two weeks. Patients with tracheotomy after an interval showed frequent pneumonias only after one month. Inflammatory changes of trachea, bronchi, and tracheostoma with the appropriate consequences were frequent. Lower tracheal stenoses occurred in approximately 10% of cases in group II. The lowest complication rate was observed in patients tracheotomised immediately. Patients with hypercatabolic disease without prospects for improvement in the near future should be tracheotomised as early as possible. Tracheotomy can be postponed for up to three weeks if regression is to be expected in that time. In diseases without rapid physical deterioration the indication for tracheotomy can be postponed for six weeks.

Neuropsychological findings in treated Wilson's disease.

Seventeen patients, treated for Wilson's disease (WD), underwent a set of neuropsychological tests and were compared with a closely matched control group. There were clear differences between the groups (chi 2-test, p less than 0.0001). Wilson patients with only hepatic involvement, however, did not at all differ from their controls. Wilson patients with neuropsychiatric signs differed from controls on a reasoning test (p = 0.0016), and the entire WD group differed on a perceptual speed task (p = 0.0025). Compared to normal test values, however, the patients' group means were all within plus or minus one standard deviation from the normal mean. Special testing procedures and construction of the test battery excluded a factor of motor deficits as a major cause for the differences. The neuropsychological findings are viewed in relation to other findings in patients with motor disorders and predominantly subcortical lesion sites. Wilson's disease may be a dementing condition, but not when treated adequately.

[Indications for thymectomy]. / Indikation zur Thymektomie.

An absolute indication for thymectomy exists in all cases with tumors of the thymus gland, however, preoperative differentiation between benign and malignant lesions is not always possible even with modern imaging methods. In extensive tumors of questionable operability preoperative transthoracic needle biopsy (guided by CAT-scan) is recommended. After establishing the histological diagnosis, preoperative radio- and/or chemotherapy can be considered. Certain immunological diseases are a relative indication for thymectomy. Its value is proven in myasthenia gravis, questionable however in ulcerative colitis and erythroblastopenia. Systemic lupus erythematosus is a contraindication.

[Rhombencephalitis caused by Listeria monocytogenes]. / Rhombenzephalitis durch Listeria monocytogenes.

We report the case of a 57-year-old man with Listeria rhombencephalitis. This had been ascertained by means of Listeria isolation from the cerebrospinal fluid. After an nonspecific prodromial period with nausea and headache, he developed fever, meningism, brain stem dysfunction and an organic psychosis. With early antibiotic therapy (ampicillin/gentamycin), it was possible to bring about a restitio ad integrum. Different brain-imaging methods (computed tomography, MRI, brain SPECT) in the acute and follow-up stages are discussed.