[Intensive care unit acquired weakness. Pathogenesis, treatment, rehabilitation and outcome]. / Erworbene Muskelschwäche des kritisch Kranken. Pathogenese, Behandlung, Rehabilitation, Outcome.

The diagnosis of intensive care unit acquired weakness (ICUAW) in the setting of neurological rehabilitation is steadily increasing. This is due to the fact that the intensive care of patients with sepsis or after cardiac or abdominal surgery is improving. A longer duration of respiratory weaning and comorbidities frequently complicate rehabilitation. Clinically, patients present with a flaccid (tetra) paresis and electrophysiological studies have shown axonal damage. Besides involvement of peripheral nerves, muscle can also be affected (critical illness myopathy) leading to ICUAW with inconstant myopathic damage patterns found by electrophysiological testing. Mixed forms can also be found. A specific therapy for ICUAW is not available. Early mobilization to be initiated on the intensive care unit and commencing neurological rehabilitation improve the outcome of ICUAW. This review highlights the current literature regarding the etiology and diagnosis of ICUAW. Furthermore, studies about rehabilitation and outcome of ICUAW are discussed.

[The course of early neurological rehabilitation in a patient with severe posterior reversible encephalopathy syndrome]. / Verlauf der neurologischen Frührehabilitation bei einem Patienten mit ausgeprägtem Posteriorem Reversiblem Enzephalopathiesyndrom.

Posterior reversible encephalopathy syndrome (PRES) is widely held to be a benign and potentially reversible disease. However, severe cases have been described in the literature. Data on the long-term outcome of these severe cases are scarce. Furthermore, there are no data focusing on potential benefits of neurological early rehabilitation in these patients. Here we present the clinical picture, neuroimaging features, rehabilitative course and long-term outcome of a patient with severe PRES who underwent early neurological rehabilitation.

Meningoencephaloradiculomyelitis after tick-borne encephalitis virus infection: a case series.

BACKGROUND: Tick-borne encephalitis (TBE) is caused by a RNA-virus and is in about 50% of cases characterized by a biphasic clinical course in adults. Different clinical syndromes have been described, including meningitis, meningoencephalitis, meningoencephalomyelitis and meningoencephaloradiculomyelitis. The latter seems to be the most disabling and severe form of TBE virus infection. METHODS: Here we report five cases with meningoencephaloradiculomyelitis. Only in three patients a tick prick was remembered. RESULTS: Only two patients could be weaned successfully from assisted ventilation; only one patient was able to return to self-dependent life without nursing support. The youngest patient in this case series showed the most favourable outcome. CONCLUSIONS: Polyradiculopathy and/or myelopathy as verified by electrophysiological examination within 4 weeks from symptom onset were indicative of a more severe disease course and a greater likelihood of moderate to serious sequelae even after long-term rehabilitation. Older age at symptom onset seems to be associated with a less favourable outcome. Because of frequent long-term hospitalization with immobilization and invasive ventilation, secondary complications, such as ventilation associated pulmonary infections and decubiti, must be avoided.

[Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles]. / Inclusion Body Myositis mit Morbus Paget und frontotemporaler Demenz: frühe Beteiligung des Herzens und der Atemmuskulatur.

Since valosin-containing protein mutations were reported as a cause of hereditary inclusion body myositis associated with Paget's disease of the bone and frontotemporal dementia, many new mutations have been described in the last decade. We report on a 46-year-old German male with a progressive tetraparesis and autosomal dominant inheritance pattern. Echocardiography revealed a beginning dilated cardiomyopathy and laboratory analyses showed increased alkaline phosphatase. Decreased verbal memory and an impairment of concept building were observed on neuropsychological examination. Muscle biopsy demonstrated a myopathic pattern, rimmed vacuoles, CD8+ T-cell infiltrates and positive MHC1-muscle fibres. We found a heterozygote mutation in exon 5 of the valosin-containing protein gene (c.464G > T p.Arg155Leu), which until now has been described only in an Australian family. We describe here the first German case with the above-mentioned mutation causing inclusion-body myositis associated with Paget's disease of the bone and fronto-temporal dementia. Here, we recommend regular controls of cardiac and respiratory functions.

Quantitative muscle ultrasound in neuromuscular disorders using the parameters 'intensity', 'entropy', and 'fractal dimension'.

BACKGROUND AND PURPOSE: Ultrasound is a useful non-invasive instrument in visualizing physiological and pathological morphology in skeletal muscle. Here, we evaluate the possibility that quantitative muscle ultrasound using the parameters 'intensity', 'entropy', and 'fractal dimension' is a feasible method to distinguish between dystrophic myopathies (DM), inflammatory myopathies (IM), and motor neuron disorders. METHODS: Seven patients with IM, 12 patients with DM, nine patients with motor neuron diseases, and 24 healthy subjects underwent an identical ultrasound examination protocol, applied on gastrocnemius and tibialis anterior muscle. Analysis parameters were applied on grey scale images as well as on gradient images. RESULTS: Statistical evaluation revealed no significant differences in the evaluated parameters for differentiation of the distinct disease groups. Compared with healthy controls however we found statistically significant differences between almost of all the investigated parameters, even in disease cases with clinically unaffected distal musculature. CONCLUSION: The parameters are able to distinguish between healthy and affected musculature but not between distinct disease entities. Studies are needed to establish whether or not the parameters are helpful to monitor muscle involvement and disease progression in neuromuscular diseases.

[Polyneuropathy and monoclonal IgG/IgA gammopathy--differential neurography on the basis of two patient cases]. / Polyneuropathie und monoklonale IgG/IgA-Gammopathie--differenzielle Neurografie anhand von zwei Fallbeispielen.

With higher age, monoclonal gammopathies are more frequently diagnosed as the underlying cause of polyneuropathies. Whereas in approximately one-third of the patients, the gammopathy is related to multiple myeloma, lymphoma, other lymphoproliferative diseases, or amyloidosis, the remaining patients are diagnosed with monoclonal gammopathy of undetermined significance (MGUS). As underlined by the two reported cases, in IgG/IgA-type gammopathies electrophysiological findings of axonal lesions in mildly impaired patients are more likely to be found in patients with MGUS, while demyelinating polyneuropathies with more severe clinical impairment are more commonly seen in myeloma patients.

Differential diagnosis in progressive infantile spastic tetraparesis.

Progressive infantile spastic tetraparesis spans a wide spectrum of partially rare differential diagnoses. Based on a clinical example the differential diagnostic thoughts are discussed in detail. Though juvenile motor neuron disease is a rare entity, it has to be kept in mind for differential diagnostics in cases of slowly progressive spastic tetraparesis, especially when a pseudobulbar palsy or distal amyotrophies add to the clinical picture. Electromyography can be helpful for early detection of lower motor neuron involvement. The glutamate antagonist riluzole slows the disease progression, but a causal treatment is not available, yet. Therefore symptomatic treatment of disturbing symptoms like muscle cramps, spasticity, pseudobulbar affect, dyspnea or dysphagia are of major interest.

[Female patient with organic psychosyndrome and neurological focal signs after immunosuppressant therapy]. / Patientin mit organischem Psychosyndrom und neurologischen Herdzeichen unter Immunsuppression.

Cerebral toxoplasmosis nearly exclusively affects immunodeficient or immunocompromised patients. Mostly, it is a reactivation of latent toxoplasmosis. The pathogens, persisting in the reticuloendothelial system of heart and skeletal muscle cells, are causing a multifocal necrotizing encephalitis. The characteristic clinical features are organic psychosyndrome and focal neurological signs such as monoparesis, hemiparesis, aphasia, or seizures. Here we describe a 56-years-old patient who developed cerebral toxoplasmosis after receiving stem-cell transplantation treatment for acute myeloic leukemia, and we discuss the clinical features, differential diagnoses and therapeutic strategies.

Brain abscess caused by Streptococcus pneumoniae with acute onset and rapid progressive symptoms.

Although the decline of the morbidity and mortality in recent years, brain abscess is still an important problem in neurocritical care medicine and remains a serious illness that can result in severe disability or even death, especially if misdiagnosed or managed improperly. We report a very rare case of a patient who developed a bacterial brain abscess in the posterior fossa with an atypical rapid progression of neurological symptoms. Furthermore, MRI demonstrated additional brain stem and left hemispheric lesions. Early onset broad antibiotic therapy, corticosteroid application and extensive intermediate care management was leading to a complete regression of the initially dramatic symptoms.

[Diagnosis and differential diagnosis of granulomatous myositis]. / Diagnose und Differenzialdiagnose der granulomatösen Myositis.

Granulomatous myositis is a rare neuromuscular disorder histologically characterized by the development of endomyseal and/or perimyseal granulomas. Clinical hallmarks are generalized muscle weakness, myalgias, and bulbar symptoms. The association of granulomatous myositis with sarcoidosis is well known; less recognized is the association with several infectious diseases, inflammatory bowel diseases, malignancy, thymoma, graft-vs-host disease, and myasthenia gravis. In absence of sarcoidosis or other underlying disorders, the diagnosis of isolated or primary granulomatous myositis must be considered. Therapeutic strategies focus on immunosuppression, whereas the therapy response is unpredictable. Here we discuss the clinical features, diagnosis, and differential diagnosis and therapeutic strategies of primary and secondary granulomatous myositis.

[Local intravenous fibrinolysis in deep cerebral vein thrombosis]. / Lokale intravenöse Fibrinolyse bei tiefer Hirnvenenthrombose.

Acute cerebral vein and dural sinus thrombosis are usually treated with unfractionated intravenous heparin. Progression of symptoms after appropriate heparin dosage appears to be a rare event. In the literature only single case reports or small case series dealing with local intravenous fibrinolysis are available. Here we describe a 44-year-old woman with progressive thrombosis of the sinus rectus and right sinus transversus upon an appropriate dosage of heparin who was successfully treated with urokinase 12 h after symptom onset. This case demonstrates that local thrombolysis should be discussed in patients with progression of the clinical or radiological picture under sufficient heparin therapy.

[Adult-onset neuronal ceroid lipofuscinosis]. / Neuronale Zeroidlipofuszinosen des Erwachsenenalters.

Neuronal ceroid lipofuscinoses are a heterogenous group of genetic progressive neurodegenerative disorders. Curative therapeutic strategies are not known. These are largely diseases of childhood; adult-onset forms are rare and poorly characterized. The classical adult variant is CLN4 (Kufs' disease), in which autosomal-recessive and autosomal dominant forms are known. Furthermore the "classic infantile" CLN1, caused by a deficiency of the enzyme palmitoylprotein-thioesterase, may be of adult onset Neuronal ceroid lipofuscinoses in adulthood are multifaceted diseases. Their clinical picture is mainly characterized by progressive dementia, seizures, and extrapyramidal motor symptoms. In contrast to the infantile forms, visual loss is an uncommon feature that appears only in adult CLN1 but not CLN4, which may be helpful in clinical differential diagnosis.

[Central core myopathy: a juvenile and adult disease]. / Central-core-Myopathie: Eine Erkrankung mit Relevanz im Kindes- und Erwachsenenalter.

Central core myopathy is a nonprogressive or only slowly progressive congenital muscle disease. In most cases, symptoms begin in childhood, but rare cases with adult onset are described. Regardless of its high variability, the clinical hallmarks are diffuse muscle weakness and the development of multiple bone deformities and contractures. Skeletal muscle biopsy is of high diagnostic significance. Due to a potential association with malignant hyperthermia, early diagnosis is of great importance. A curative treatment is not currently known. Here we discuss aetiology, pathogenesis, clinical features, diagnosis, differential diagnosis, therapeutic strategies, and prognosis of central core myopathy based on a clinical example with an atypical onset of symptoms in adulthood.

Cardiomyopathy in motor neuron diseases.

OBJECTIVE: Myocardial involvement in motor neuron diseases (MND) is an uncommon feature. In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the hereditary spastic paraplegias (HSP) comparable manifestations are unknown. This study observed ALS and HSP patients with coexisting cardiomyopathy without major cardial risk factors. METHODS: Four patients with definite ALS and two pHSP patients. In all patients detailed clinical, cardiological, electrophysiological and laboratory data were analysed. In two ALS patients skeletal muscle biopsy was performed. RESULTS: In all investigated MND patients cardiomyopathy was present. Beside hyperlipoproteinaemia and mild hypertension in one case, none of the patients showed major cardiovascular risk factors. There was no evidence for a secondary cause of cardiomyopathy like coronary heart disease, myocarditis, or mitochondrial damage mimicking MND. CONCLUSION: This report could not conclude that the occurrence of cardiomyopathy is rare logically. Although an underlying pathophysiological cause was not obvious, it is proposed that in all MND patients a routine cardiological evaluation should be performed.