Ecchordosis physaliphora – opis przypadku i omówienie patologicznych pochodnych struny grzbietowej

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.Podczas formowania się jąder miażdżystych na pozostałościach komórek struny grzbietowej rozwijają się zmiany podobne do siebie, mające jednak różny przebieg kliniczny. Niektóre z nich, takie jak ecchordosis physaliphora (EP) i notochordal benign cell tumour (NBCT), mają charakter łagodny, inne (np. struniak) – agresywny. Celem pracy jest przegląd najważniejszych cech zmian wywodzących się ze struny grzbietowej i ich 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 podstawnej nie dawał żadnych objawów. Ecchordosis physaliphora to zazwyczaj mały, bezobjawowy guzek, łatwy do przeoczenia podczas autopsji. Struniak i EP 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

"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 respectively

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

Clinical and neuropathological picture of ethylmalonic aciduria : diagnostic dilemma

Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly increased number of capillaries. To the authors’ knowledge this is the first clinical report of ethylmalonic aciduria with brain autopsy findings

Psychotic disorder in the course of Systemic Lupus Erythematosus with subcortical calcifications : case report

Systemic Lupus Erythematosus (SLE) is autoimmunological disease of connective tissue which is characterized with clinical symptoms of many systems and organs injury. There are often neuropsychiatric symptoms. Psychotic disorder is the least frequent syndrome. Neuropsychiatric symptoms are important because they deteriorate the quality of life and are poor prognostic factor. Aim. The aim of the study is to present the patient with chronic, lasting for many years, skin lesions and laboratory tests results characteristic for SLE, who had psychotic disorder diagnosed as schizophrenia and in the next few years there were observed other neuropsychiatric symptoms including cognitive impairment and mood disorder. Conclusions. Psychotic disorder is rare syndrome of neuropsychiatric SLE (NPSLE). It may primarily originate from SLE or be secondary either to the therapy or the complications of the disease. It is not possible to define if the psychosis is the primary schizophrenic process or secondary to the autoimmune disease in presented patient. However the clinical picture pays attention to the significance of careful diagnostic process, including neuroimaging. In head CT of presented patient there were revealed massive, bilateral, calcifications of subcortical structures which probably substantially enhanced neuropsychiatric symptoms