[Hereditary Polyneuropathies]. / Hereditäre Polyneuropathien.

Hereditary neuropathies are a group of diseases of which the most prevalent is Charcot Marie Tooth disease (CMT). From the clinical point of view pes cavus is a typical yet not specific sign for CMT. Motor signs like bilateral foot drop are dominant over sensory signs. Mutations in some 80 genes can lead to CMT. Whereas clinical sign can hardly differentiate between these genotypes, there is a clear differentiation by classical neurography: median nerve conduction velocity of less or more than 38 m / s differentiates between CMT type 1 and CMT type 2. The two most common forms are CMT1A induced by duplication of the PMP22 gene and hereditary neuropathy with liability to pressure palsy (HNPP) induced by deletion of the PMP22 gene.

[Subarachnoid Hemorrhage and Isolated Brainstem Death]. / Aneurysmatische Subarachnoidalblutung und Entwicklung eines "isolierten Hirnstammtods".

BACKGROUND: Worldwide there are differences in the procedure of determining brain death. An irreversible loss of all brain functions, including cerebrum, cerebellum and brainstem is mandatory for the diagnosis of brain death in Germany. On the basis of a case report some important aspects of the new recommendations of the German guidelines are discussed. CASE REPORT: We present the case of a 41-year old patient who was admitted to our clinic due to acute subarachnoid hemorrhage (SAH). Angiography revealed an aneurysm of the posterior inferior cerebellar artery. The patient was comatose without any brainstem reflexes and showed apnoea. However, on day 3, EEG showed alpha activity as a sign of residual cortical function. We diagnosed an isolated brainstem death. The next day EEG was isoelectric and brain death was confirmed. DISCUSSION: The diagnosis of isolated brainstem death does not allow a confirmation of death in Germany. Our case presents a primary infratentorial brain damage mandating additional confirmatory tests.

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.

We investigated a four-generation family of German ancestry with distal myopathy. Four individuals in two generations were affected. Foot and toe extensor paresis progressing very slowly over decades was the core neurological sign, reflected by fatty infiltration of the lower leg extensor muscles on muscle MRI. Additionally, finger extensor paresis was present in two patients and quadriceps muscle paresis in one. Distal sensory signs had initially given rise to the diagnosis of axonal Charcot-Marie-Tooth (CMT) disease. Two patients had extended verrucae of their foot sole, which may or may not be part of the disease spectrum. All four patients had a novel c.4645G > C mutation in exon 34 of the MYH7 gene that was not present in three clinically unaffected family members. Muscle biopsy of one patient revealed a myopathic pattern associated with type 1 muscle fibre atrophy and core-like lesions in many muscle fibres consistent with a myosin-related myopathy. We conclude that some of the typical clinical signs such as extensor weakness of the big toe and the little finger may only develop in the further course of the disease.

[Spontaneous intracranial hypotension and Marfan syndrome]. / Spontanes Liquorunterdrucksyndrom und Marfan-Syndrom.

Spontaneous intracranial hypotension is the most common complication in patients undergoing a lumbar puncture. A much rarer entity is headaches attributed to spontaneous (or idiopathic) low cerebrospinal fluid (CSF) pressure but the combination with a connective tissue disorder is even rarer. The first case of a patient with spontaneous intracranial hypotension and genetically established Marfan syndrome was published in 1995. This article describes the cases of two female patients who presented with postural headache. Magnetic resonance imaging revealed multiple leakages of CSF and both patients had a genetically confirmed diagnosis of Marfan syndrome. The initial symptomatic treatment did not result in a significant relief of the headaches. Epidural blood patching was performed and the intervention was successful in both patients. Finally, the most important epidemiological, diagnostic and pathophysiological aspects are demonstrated and the therapeutic procedures are presented.

Intracranial Pressure Changes During Intrahospital Transports of Neurocritically Ill Patients.

BACKGROUND: Intrahospital transport is associated with a high rate of complications. Investigations of this problem using neuromonitoring remain scarce. METHODS: This is a monocentric, prospective observational study. Patients with severe brain diseases and intracranial pressure (ICP) monitoring were included. Continuous monitoring of ICP, cerebral perfusion pressure (CPP), oxygen saturation (SpO2), heart rate, and mean arterial pressure was measured during seven different periods of intrahospital transport (baseline for 30 min, I = preparation, II = transport I, III = CT scan, IV = transport II, V = postprocessing, and follow-up for another 30 min). All complications were documented. RESULTS: Between July 2013 and December 2013, a total number of 56 intrahospital transports of 43 patients were performed from ICU to CT. Data recording was incomplete in six cases. Fifty transports have been taken into account for statistical analysis. Forty-two percent were emergency transports. Mean duration of the procedure was 17' (preparation), 6' (transport I), 9' (CT scan), 6' (transport II), and 15' (postprocessing), respectively. Mean ICP at baseline was 8.53 mmHg. Comparing all periods of intrahospital transport and the follow-up period to the baseline showed a significant increase of ICP only during CT scan (15.83 mmHg, p < 0.01), not during the transport to and from the radiology department. An overall complication rate of 36 % (n = 18) was observed. In 26 % (n = 13), additional ICP therapy was necessary due to an elevation of ICP above 20 mmHg. CONCLUSION: There is a considerable rate of complications during intrahospital transport of critically ill patients with severe brain diseases, with a significant increase of ICP during transport and CT scan. In one-fifth of all patients, additional therapy was necessary. From our point of view, transport of critically ill patients should only be performed by trained staff and under monitoring of ICP and CPP.

Craniocervical manual lymphatic drainage and its impact on intracranial pressure - a pilot study.

BACKGROUND AND PURPOSE: Theoretical considerations and the results of animal studies indicate that manual lymphatic drainage (MLD) might have an impact on intracranial pressure (ICP). There is a lack of clinically qualitative investigations on patients with severe cerebral diseases. METHODS: Between April 2013 and January 2015 a prospective observational study was performed on patients who were undergoing intracranial pressure measurement and treatment with MLD. ICP, cerebral perfusion pressure, mean arterial pressure (MAP), heart rate and oxygen saturation were recorded continuously 15 min before the procedure, during MLD (22 min) and for 15 min after the procedure. For analysis the data treatment units were divided into two groups: patients with a mean baseline ICP <15 mmHg (group 1) and patients with a mean ICP ≥15 mmHg before MLD (group 2). RESULTS: A total of 133 treatment units (61 patients) were analysed (group 1 n = 99; group 2 n = 34). The mean baseline ICP was 10.4 mmHg overall, and 8.3 mmHg and 18.6 mmHg respectively in group 1 and group 2; ICP significantly decreased during therapy with MLD and this persisted during the follow-up period in group 2. MAP did not show any significant differences between the different periods. CONCLUSIONS: Our data showed a significant reduction of ICP during therapy with craniocervical MLD in patients with severe cerebral diseases.

[Determination of irreversibility of clinical brain death. Electroencephalography and evoked potentials]. / Irreversibilitätsnachweis der klinischen Ausfallssymptome des Gehirns. Elektroenzephalographie und evozierte Potenziale.

Principally, in the fourth update of the rules for the procedure to finally determine the irreversible cessation of function of the cerebrum, the cerebellum and the brainstem, the importance of an electroencephalogram (EEG), somatosensory evoked potentials (SEP) and brainstem auditory evoked potentials (BAEP) are confirmed. This paper presents the reliability and validity of the electrophysiological diagnosis, discusses the amendments in the fourth version of the guidelines and introduces the practical application, problems and sources of error.An EEG is the best established supplementary diagnostic method for determining the irreversibility of clinical brain death syndrome. It should be noted that residual brain activity can often persist for many hours after the onset of brain death syndrome, particularly in patients with primary brainstem lesions. The derivation and analysis of an EEG requires a high level of expertise to be able to safely distinguish artefacts from primary brain activity. The registration of EEGs to demonstrate the irreversibility of clinical brain death syndrome is extremely time consuming.The BAEPs can only be used to confirm the irreversibility of brain death syndrome in serial examinations or in the rare cases of a sustained wave I or sustained waves I and II. Very often, an investigation cannot be reliably performed because of existing sound conduction disturbances or failure of all potentials even before the onset of clinical brain death syndrome. This explains why BAEPs are only used in exceptional cases.The SEPs of the median nerve can be very reliably derived, are technically simple and with few sources of error. A serial investigation is not required and the time needed for examination is short. For these reasons SEPs are given preference over EEGs and BAEPs for establishing the irreversibility of clinical brain death syndrome.

Intracranial pressure and cerebral perfusion pressure during apnoea testing for the diagnosis of brain death - an observational study.

BACKGROUND AND PURPOSE: Some authors have suggested a rise of intracranial pressure (ICP) during apnoea testing and the possibility of harm to patients. Data, however, have yet to be obtained. METHODS: Between October 2012 and May 2014 an observational study was performed on patients who received ICP measurements and who underwent brain death diagnosis. ICP, cerebral perfusion pressure (CPP), mean arterial blood pressure (MAP) and heart rate were recorded continuously from 15 min before the start of brain death diagnosis (baseline), during clinical examination including apnoea testing, until 15 min after this procedure. RESULTS: A total of 16 clinical examinations for brain death including apnoea testing were performed on 13 patients. All patients had primary brain lesions. Mean ICP and mean CPP during the examination were 95 ± 27.7 mmHg and 13.5 ± 20.7 mmHg, respectively. ICP and MAP showed a strong and statistically significant correlation, with Pearson's correlation coefficients of more than +0.6 or less than -0.6 in 13 of the 15 examinations. CONCLUSION: Mean ICP even before brain death determination is increased excessively. Changes of ICP during apnoea show a clear correlation to the changes of MAP. Furthermore, CPP during the condition of brain death may not equal zero but may be positive thereby indicating some minor net influx of blood into the brain in some patients.

[Mimikry of herpes encephalitis by glioblastoma multiforme]. / Mimikry einer Herpes-Enzephalitis durch Glioblastoma multiforme.

Herpes encephalitis (HSE) is an acute illness. Imaging is an important part of the diagnostic work-up of HSE. In early stages one can see a manifestation in the insular cortex as well as in the fornix. These MRI findings are rather typical for HSE. We present three cases treated in our hospital over the past ten years. In these cases the clinical symptoms and signs as well as the morphological findings were compatible with the HSE diagnostic criteria. Later on, a glioblastoma multiforme was found in all three cases.

[Hirayama disease in Germany: case reports and review of the literature]. / Hirayama-Syndrom in Deutschland : Fallberichte und Literaturübersicht.

Hirayama disease is a juvenile benign distal upper limb muscular atrophy rarely observed in Europe, usually monomelic involving C7-Th1 innervated muscles. It is characterized by insidious onset and a self-limited course within a few years. The pathogenesis of this mostly sporadic disease is not fully clarified. Cervical flexion myelopathy with mechanical ischemic damage of spinal motoneurons is the best established pathogenetic hypothesis, but neurodegenerative and autoimmune causes are also debated. Typically, young men of Asian origin are affected. Here we describe three German Caucasian patients with Hirayama disease and provide an up-to-date review of the literature.

The posterior reversible encephalopathy syndrome: what's certain, what's new?

The posterior reversible encephalopathy syndrome is an increasingly recognised disorder. Most patients have several symptoms; seizures are the most frequent, often multiple or status epilepticus. A combination of seizures, visual disturbance and/or headache, in particular, should lead to an early brain MRI to reveal the typical pattern of bilateral hyperintensities on fluid attenuated inversion recovery imaging, predominantly in the parieto-occipital region. There seem to be many possible triggers, including abrupt arterial hypertension, impaired renal function, pregnancy, immunosuppressive therapies and various inflammatory conditions. The clinical outcome is excellent, with recovery within a few days, while the MRI abnormalities resolve much more slowly. Little is known about the best management. Seizures do not normally progress to chronic epilepsy so antiepileptic drugs should be discontinued after about 3 months.

First experiences with a new device for mechanical thrombectomy in acute basilar artery occlusion.

BACKGROUND AND PURPOSE: The aim of this study was to evaluate our first results using a new device for mechanical thrombectomy in patients with acute basilar artery occlusion. METHODS: Between May 2009 and September 2010 a new device for aspiration thrombectomy (The Penumbra System™; Penumbra Inc., Alameda, Calif., USA) was used in 12 patients with acute basilar artery occlusion. We performed a retrospective review of these patients' medical records. RESULTS: One patient received endovascular treatment without intravenous (IV) thrombolysis because of infarction on the initial CT scan. Eleven of 12 patients received IV thrombolysis with rtPA followed by endovascular thrombectomy according to a bridging concept. After thrombolysis, the basilar artery was patent in 1 patient (9%), partially recanalized in 3 (27%) and still occluded in 7 (64%). The endovascular device could not access in 2 patients (17%). Among the remaining 10 patients, the patency rate after thrombectomy was 100%. The overall patency rate after treatment was 9 of 12 (75%) at the time of discharge. National Institute of Health Stroke Scale improved from a median of 27 to a median of 18 after treatment. Four patients died (33%). The survivors had a mean modified Rankin Scale before discharge of 2.3 (range 0-4). CONCLUSIONS: A bridging therapy with the combination of IV thrombolysis with recombinant tissue plasminogen activator and continuous aspiration thrombectomy seems to be a promising therapy strategy for acute basilar artery occlusion. Furthermore, our results confirm the advantage of the additional use of this new thrombectomy device, working with thrombus aspiration, with a satisfactory patency rate and a good clinical outcome.

[Billing based on a case-based lump sum for stroke. Did this lead to discharge of patients in a worse clinical condition?]. / Abrechnung mittels Fallpauschalen beim Hirninfarkt. Führte dies zu Entlassungen in klinisch schlechterem Zustand?

BACKGROUND: It has been supposed that the introduction of a new inpatient reimbursement system starting in 2004 in Germany using the German diagnosis-related groups (G-DRG) may lead to false incentives with encouragement of premature hospital discharge of patients. Exploring a large database on stroke patients, we addressed the question whether length of stay (LOS) and discharge in more severe condition were associated with the introduction of the G-DRG. We further examined other factors with probable effect on LOS such as variations of patient characteristics and treatment during the observation period. PATIENTS AND METHODS: All stroke patients treated in 2003-2006 in the German state of Hesse (6,100,000 inhabitants) were assessed with respect to stroke severity, symptoms on admission and discharge, LOS and stroke-related deficits on discharge. We compared LOS and outcome in 2003 (before introduction of the G-DRG) with 2004 when the G-DRG had recently been introduced and with 2006 when the G-DRG was already well established in the clinical routine. The effects of LOS and treatment year on outcome were assessed using a logistic regression model. RESULTS: During the observation period, we evaluated 37,396 stroke patients. The length of stay was reduced significantly from 12.2 to 10.4 days (p<0.001). Both severity of stroke on admission and outcome on discharge decreased during the observation period. A multivariate analysis revealed a minor but significant association [odds ratio (OR): 1.020 per day of hospital treatment; 95% confidence interval (CI): 1.016-1.024] of LOS on outcome. Treatment in 2006 compared to 2003 led to good outcome with an OR of 1.378 (95% CI: 1.279-1.485). Subgroup analysis limited to patients with severe stroke revealed that LOS was significantly lower in 2006 compared to 2003 also in this patient subgroup; moreover, the proportion of patients discharged with severe outcome was lower in 2006 compared to 2003. CONCLUSIONS: This study reveals a significant reduction of LOS during the years after introduction of the G-DRG. However, reduction of LOS was not associated with more severe outcome on discharge, possibly due to changes in stroke treatment implemented during the observational period. Our results do not support the conjecture that changes in the reimbursement system were associated with compromised patient care.

Posterior reversible encephalopathy syndrome: is there a difference between pregnant and non-pregnant patients?

BACKGROUND: Clinical and imaging abnormalities similar to those seen in posterior reversible encephalopathy syndrome (PRES) have been observed in patients with eclampsia. It remains unclear whether both conditions are in fact the same disease entity. METHODS: We retrospectively identified 21 patients with PRES and separated them into 2 groups: patients who were symptomatic during pregnancy, and a group of non-pregnant patients. We recorded symptoms, premedical history and paraclinical investigations of both groups and compared them to each other. RESULTS: We found 8 pregnant patients and 13 non-pregnant patients with PRES. There was no difference between both groups with regard to symptoms, cerebral imaging, or outcome, apart from a difference in age, the premedical history and a significantly higher occurrence of headache in the pregnant group. All of our pregnant women were primigravid. Follow-up was done over a mean period of 2,171 (range 59-9,396) days. Overall, there was a good clinical outcome. CONCLUSION: We suggest that PRES in non-pregnant patients and eclampsia presenting with MRI abnormalities similar to those seen in PRES represent the same disease entity, but are triggered by different pathologies.

[Severe encephalitis without correlate in MRI]. / Schwerste Enzephalitiden ohne Korrelat im MRT.

Encephalitis could be a life-threatening disease depending on localisation and infectious agent. Neuroimaging, especially MRI, is an important component in the diagnosis. The recent investigations demonstrate that diffusion abnormalities are the first and sensitive signs of viral encephalitis. We describe five patients with severe encephalitis with normal MR imaging. Three of five patients were intermittently mechanically ventilated, two of these longer than 4 weeks. The other two patients suffered from a severe psychosyndrome with seriously limited ability to communicate throughout 6 weeks. At the time of first MRI examination all patients were noticeably ill. Four of five patients had at least one follow-up MRI. The MRI examinations included FLAIR sequences and DWI in four of five patients. Contrast-enhancement was detectable in none of our patients. Follow-up examinations revealed that symptoms of encephalitis were noticeably or completely regressive.

[Type I neurofibromatosis and megadolichobasilar artery]. / Neurofibromatose Typ I und Megadolichobasilaris.

Intracranial vascular malformations are rare but tend to appear more frequently than usual in patients with type I neurofibromatosis (NFI). Aneurysms of the basilar artery have been described four times so far. We report two cases of 51- and 62-year-old patients with type I neurofibromatosis who showed long fusiform dilation of the basilar artery. Clinically both patients presented with locked-in syndrome and died 15 and 11 days after admission. The diagnosis was confirmed by autopsy. These are the first published cases of locked-in syndrome following thrombosis of a megadolichobasilar artery in association with neurofibromatosis I. Our results show that cerebral vascular malformations are found more frequently than random chance would predict in patients with NF I.