"Ecchordosis physaliphora" : opis przypadku i omówienie patologicznych pochodnych struny grzbietowej

Podczas formowania się jąder mia¿d¿ystych na pozostałościach komórek struny grzbietowej rozwijają się zmiany podobne do siebie, mające jednak różny przebieg kliniczny. Niektóre znich, takie jak ecchordosis physaliphora (EP) i notochordal benign cell tumour(NBCT), mają charakter łagodny, inne (np. stru- niak) - agresywny. Celem pracy jest przegląd najważniejszych cech zmian wywodzących się ze struny grzbietowej iich dia­gnostyka różnicowa na podstawie przypadku EP stwierdzo­nego podczas autopsji mózgu 78-letniego mężczyzny zmarłego na atak serca. Galaretowaty guz o największym wymiarze 6 mm, przytwierdzony do brzusznej części tętnicy podstaw- nej nie dawał żadnych objawów. Ecchordosis physaliphora to zazwyczaj mały, bezobjawowy guzek, łatwy do przeoczenia podczas autopsji. Struniak iEP wywodzą się z tych samych komórek, lecz ze względu na podobieństwa mogą być ze sobą mylone, co skutkuje niewła­ściwym rozpoznaniem i ewentualnym leczeniem. Podobny problem występuje w przypadku NBCT. W pracy poruszo­no również kwestię ich wzajemnego związku na podstawie badań genetycznych.Some notochord cells remain along the axis of the vertebral column after embryogenesis. These ‘notochordal remnants’ have some similarities, but their biological behaviour varies considerably. They can give rise to benign lesions such as ecchordosis physaliphora (EP) and ‘benign notochordal cell tumour’ (BNCT), or aggressive ones like chordoma. We review the problems of the differential diagnosis of notochordal remnants apropos of a case of the incidental autopsy finding of EP in a 78-year-old man, who died due to heart infarction. The 6-mm asymptomatic gelatinous lesion was fixed to the basilar artery on its ventral aspect. Small EPs can be easily overlooked in autopsy. Ecchordosis physaliphora and intradural chordoma share some similarities that may be misleading and may even result in the wrong diagnosis and therapy. The recently reported new entity BNCT poses a similar problem. We review the literature illustrating the most important features of notochord-derived lesions and discuss the relationships between these lesions with regard to molecular genetics

Small volume of the posterior cranial fossa and arterial hypertension are risk factors of hemifacial spasm

Objectives: So far, there are only two studies evaluating the relation between the small volume of the posterior cranial fossa (VPCF) and the occurrence of HFS, both on Asian population. The aim of the study was to determine small VPCF and arterial hypertension (AH), as risk factors for hemifacial spasm (HFS) and their relation to neurovascular conflict (NVC) in Polish Caucasian-origin patients. Materials and methods: The study included 60 patients with idiopathic HFS and 60 healthy volunteers matched by sex and age. AH was defined according to WHO. The VPCF measured the volume of the prepontine, prespinal and both cerebellopontine angle cisterns in MRI scans. Results: There were no significant differences between occurrence of AH and the VPCF of patients and controls but the mean VPCF in women was significantly smaller than in men, In the multivariate regression analysis model only NVC was the statistically significant. In the subgroup of >50-year-old patients the most dominant risk factor was NVC (OR 71.09; 95% CI 21.08–239.77; p = 0.0000), followed by the AH duration (OR 1.07; 95% CI 1.00–1.16; p = 0.047). In the subgroup of <50 years, NVC was also the dominant risk factor, followed by the lower VPCF (Walad test: OR 0.4; 95% CI 0.16–1.04; p = 0.045). Conclusion: There was no significant difference in VPCF and in frequency of AH diagnosis in HFS patients and age- and sex-related controls, but the logistic regression analysis showed that small VPCF and AH duration are risk factors of HFS in younger and older patients respective

Is hypertension a risk factor of hemifacial spasm?

Objectives The published data on the relation between arterial hypertension (AH) and hemifacial spasm (HFS) are controversial. The aim of the study was to determine the prevalence of AH in HFS patients and the relation of AH and compression of the brainstem at the region of vasomotor center. Materials and methods The study included 60 of primary HFS patients and 60 healthy controls matched by age. AH was defined according to WHO criteria. The vessel compression of the brainstem was measure on MRI scans in selected region of vasomotor center located in the ventro-lateral medulla (VLM), between the pontomedullary junction, retro-olivary sulcus and the root entry zone (REZ) of the IX and X nerves. Modeling and compression severity of the VLM was graded in the 0–3 scale. Results The prevalence of AH in HFS patients did not differ significantly from the control group (61.6% vs 45.0%, p=ns). VML compression by vessel was frequently found in HFS patients with AH than without AH (97.2% vs 60.9%, χ2=11.0, p=0.0009). A similar relation was also found in the control group. The higher rate of VML vascular compression was related to the presence of AH in both, HFS patients and control group. Conclusion The prevalence of AH in HFS patients does not differ from controls. The VLM compression in HFS patients and controls is related to AH diagnosis. The association between AH and VLM compression is stronger in patients with higher degree of VLM compression

Is hypertension a risk factor of hemifacial spasm?

Objectives: The published data on the relation between arterial hypertension (AH) and hemifacial spasm (HFS) are controversial. The aim of the study was to determine the prevalence of AH in HFS patients and the relation of AH and compression of the brainstem at the region of vasomotor center. Materials and methods: The study included 60 of primary HFS patients and 60 healthy controls matched by age. AH was defined according to WHO criteria. The vessel compression of the brainstem was measure on MRI scans in selected region of vasomotor center located in the ventro-lateral medulla (VLM), between the pontomedullary junction, retro-olivary sulcus and the root entry zone (REZ) of the IX and X nerves. Modeling and compression severity of the VLM was graded in the 0–3 scale. Results: The prevalence of AH in HFS patients did not differ significantly from the control group (61.6% vs 45.0%, p = ns). VML compression by vessel was frequently found in HFS patients with AH than without AH (97.2% vs 60.9%, x2 = 11.0, p = 0.0009). A similar relation was also found in the control group. The higher rate of VML vascular compression was related to the presence of AH in both, HFS patients and control group. Conclusion: The prevalence of AH in HFS patients does not differ from controls. The VLM compression in HFS patients and controls is related to AH diagnosis. The association between AH and VLM compression is stronger in patients with higher degree of VLM compression

The relation between plasma α-synuclein level and clinical symptoms or signs of Parkinson's disease

Introduction Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms. Methods Patients with PD hospitalized in Neurology Department, Medical College were performed sequencing the 8th and 9th exon of GBA gene. Next plasma ASN level was tested in 58 patients with sequenced GBA gene and in 38 healthy volunteers (HV), matched by the age (respectively 68.43 vs. 64.57 years of age) and sex (female %, respectively: 43.10 vs.44.74). Patients were assessed with the scales: UPDRS (II, III, IV), Hoehn–Yahr (HY) and qualified to PIGD or TD subtype. For homogeneity of the group patients with GBA mutation were excluded from the analysis. Results The ASN level did not differ between patients and HV (respectively: 4.53 vs. 3.73ng/ml) and between patients with different subtypes. There was inverse correlation between ASN and HY in PIGD subtype. Conclusions Plasma ASN level is not valuable marker of the disease. It does not differ in subtypes of the disease. There is relation between plasma ASN level and the severity of the disease in PIGD subtype

Czynniki determinujące jakość życia chorych na połowiczy kurcz twarzy

Background and purpose Hemifacial spasm (HFS), a movement disorder manifested by unilateral spasms of the muscles innervated by the facial nerve, interferes with social life in about 90% of patients, causing social isolation and depression and having a significant impact on the quality of life. The aim of the study was to assess factors affecting the quality of life in patients with HFS in respect of influence of the severity of depression symptoms and botulinum toxin type A (BTX-A) therapy. Material and methods Eighty-five out of 129 patients included in the HFS database of the Movement Disorders Out-patient Clinic, Department of Neurology, University Hospital, Cracow who fulfilled the inclusion criteria and had no exclusion criteria (suffering from concomitant movement disorders, other severe chronic diseases or cognitive impairment) were studied. Demographic and clinical data (age at onset, disease duration and accompanying symptoms) were collected. Severity of HFS was assessed by the five-point clinical scale and seven-point Clinical Global Impression scale. Quality of life was assessed with the HFS-36 questionnaire and severity of depressive symptoms was evaluated with the Beck Depression Inventory. HFS-36 was performed twice, before BTX-A injection and two weeks later. Results The mean global score of HFS-36 was 47 ± 31 (maximum: 140 pts). Decreased HFS-36 score resulted from divergent deterioration in all subscales included in the questionnaire. Independent risk factors of deterioration in HFS-36 were increased severity of HFS and depressive symptoms as well as accompanying trismus. The HFS-36 score depended on the number and type of accompanying symptoms as well. Botulinum toxin type A therapy led to a significant improvement of HFS-36, particularly high in patients with multiple (> 4) HFS-related symptoms. Conclusions The HFS-36 score depends mostly on severity of HFS, depressive symptoms and occurrence of accompanying trismus. It improves after BTX-A treatment

Wpływ toksyny botulinowej na zaburzenia słuchu w połowiczym kurczu twarzy

Background and purpose: Hemifacial spasm (HFS) is frequently accompanied by other symptoms, such as visual and auditory disturbances or pain. The aim of the study was to assess the occurrence of auditory symptoms accompanying HFS using subjective and objective methods, their relation with other HFS symptoms, and their resolution after botulinum toxin (BTX-A) treatment. Material and methods: The occurrence of hypoacusis, ear clicks and tinnitus was assessed by questionnaire in 126 HFS patients from an electronic database which included medical data such as severity of HFS rated by clinical scale and magnetic resonance imaging focused on the presence of vascular nerve VII and VIII conflict. Forty consecutive patients treated with BTX-A and 24 controls matched by sex and age underwent laryngological examination including audiometry, tympanometry and acoustic middle ear reflex before injection and two weeks later. Results: About 45.2% of patients complained of auditory disturbances (31.7% hypoacusis, 30.2% ear clicks and 7.1% tinnitus) on the side of HFS. Auditory disturbances correlated with severity of HFS symptoms but not with age, disease duration, or neurovascular conflict with nerves VII and VIII. We did not find abnormalities in audiometric and tympanometric assessment in patients in comparison with controls. No abnormalities were detected in brainstem evoked potentials comparing the sides with and without HFS symptoms. Tinnitus and absence of ipsilateral acoustic middle ear reflex occurred more often in patients with auditory symptoms than those without them. BTX-A treatment caused resolution of subjective acoustic symptoms without any improvement in audiometric assessment. Conclusions: Auditory disturbances accompanying HFS are probably caused by dysfunction of the Eustachian tube, which improves after BTX-A treatment