Thrombosis of the cerebral veins and sinuses (CVST) is relatively uncommon and often misdiagnosed. Certain populations such as children, pregnant woman or woman on OCT are at a higher risk. Its diagnosis has been made easier with the advance in CT venography and MRV. There is almost always an underlying hypercoagulable state that should be investigated. The use of anticoagulation is the treatment of choice. AED is used in selected cases. The prognosis is usually good unless the patient present with altered mental status or hemorrhage. In this paper we reviewed selected literature that has contributed to the actual practical knowledge on the diagnosis and treatment of CVST.
{"title":"Cerebral venous and sinus thrombosis in adults: A Practical Approach","authors":"C. Karam","doi":"10.5580/11e9","DOIUrl":"https://doi.org/10.5580/11e9","url":null,"abstract":"Thrombosis of the cerebral veins and sinuses (CVST) is relatively uncommon and often misdiagnosed. Certain populations such as children, pregnant woman or woman on OCT are at a higher risk. Its diagnosis has been made easier with the advance in CT venography and MRV. There is almost always an underlying hypercoagulable state that should be investigated. The use of anticoagulation is the treatment of choice. AED is used in selected cases. The prognosis is usually good unless the patient present with altered mental status or hemorrhage. In this paper we reviewed selected literature that has contributed to the actual practical knowledge on the diagnosis and treatment of CVST.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125524746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Settin, N. B. El-Din, N. Ali, Abdel-Hady El, F. Salem
This work aims at assessment of factors contributing to cell proliferation in relation to histopathologic diagnosis and clinical outcome of 90 brain tumour cases from Egypt. Cases were taken prospectively from the Neurosurgery Department of Mansoura University Hospitals, Egypt. Their median age was 46 years and their sex included 42 (46.7%) males and 48 (53.3%) females. Of these cases, 14 cases (15.6%) had an age <20 years. Brain biopsy samples were processed for histopathologic examination in addition to flow cytometeryic analysis of DNA ploidy pattern, apoptosis, p53 and Bcl2 expressions. Meningeal tumors were most frequent (37.8%) followed by astrocytic tumors (26.7%), sellar tumors (12.2%) while the neuroblastic tumors were detected in 10% of cases. Females were more affected by meningiomas and pituitary adenomas whereas males were more affected by astrocytic tumors. Older cases were affected mostly by meningeal and astrocytic tumors while the younger ones were more affected by neuroblastic tumors. Malignant tumors showed significant increased levels of mutant p53 expression, S phase of both diploid and aneuoploid cells than benign ones (P<0.05). On follow up, most of the cases affected with meningeal tumors had become symptom free while recurrence and death were mostly observed in astrocytic tumors. Significant increased expression of mutant p53 was also observed among recurrent cases (p<0.05) than cases that become free of symptoms. These results shows that cell cycle markers in addition to histopathology can help in predicting prognosis of brain tumours with a potential impact on management plan.
{"title":"Histopathologic Diagnosis, Cell Cycle Parameters and Clinical Behavior of 90 Egyptian Brain Tumor Cases","authors":"A. Settin, N. B. El-Din, N. Ali, Abdel-Hady El, F. Salem","doi":"10.5580/b11","DOIUrl":"https://doi.org/10.5580/b11","url":null,"abstract":"This work aims at assessment of factors contributing to cell proliferation in relation to histopathologic diagnosis and clinical outcome of 90 brain tumour cases from Egypt. Cases were taken prospectively from the Neurosurgery Department of Mansoura University Hospitals, Egypt. Their median age was 46 years and their sex included 42 (46.7%) males and 48 (53.3%) females. Of these cases, 14 cases (15.6%) had an age <20 years. Brain biopsy samples were processed for histopathologic examination in addition to flow cytometeryic analysis of DNA ploidy pattern, apoptosis, p53 and Bcl2 expressions. Meningeal tumors were most frequent (37.8%) followed by astrocytic tumors (26.7%), sellar tumors (12.2%) while the neuroblastic tumors were detected in 10% of cases. Females were more affected by meningiomas and pituitary adenomas whereas males were more affected by astrocytic tumors. Older cases were affected mostly by meningeal and astrocytic tumors while the younger ones were more affected by neuroblastic tumors. Malignant tumors showed significant increased levels of mutant p53 expression, S phase of both diploid and aneuoploid cells than benign ones (P<0.05). On follow up, most of the cases affected with meningeal tumors had become symptom free while recurrence and death were mostly observed in astrocytic tumors. Significant increased expression of mutant p53 was also observed among recurrent cases (p<0.05) than cases that become free of symptoms. These results shows that cell cycle markers in addition to histopathology can help in predicting prognosis of brain tumours with a potential impact on management plan.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133236687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Narcolepsy is a disorder characterised by diurnal somnolence and episodes of short duration sleep. Cataplexy is frequently associated as are the symptoms of sleep paralysis, hypnagogic hallucinations and disordered night-time sleep. The condition has been recognised since the 19th century with many prominent late 19th and earl 20th century neurologists contributing to our knowledge of the condition. Recent research from sleep laboratories as well as laboratory research on hypocretins (oroxins) has led to a greater understanding of this debilitating condition.
{"title":"Narcolepsy: A Historical Review","authors":"D. Todman","doi":"10.5580/10ef","DOIUrl":"https://doi.org/10.5580/10ef","url":null,"abstract":"Narcolepsy is a disorder characterised by diurnal somnolence and episodes of short duration sleep. Cataplexy is frequently associated as are the symptoms of sleep paralysis, hypnagogic hallucinations and disordered night-time sleep. The condition has been recognised since the 19th century with many prominent late 19th and earl 20th century neurologists contributing to our knowledge of the condition. Recent research from sleep laboratories as well as laboratory research on hypocretins (oroxins) has led to a greater understanding of this debilitating condition.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116681113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Sethi, D. Labar, J. Torgovnick, P. Sethi, E. Arsura, E. Soto
Epilepsy is among the most common disorders encountered by neurologists in their day-to-day practice. It is characterized by the occurrence of at least two or more unprovoked seizures. Effective treatment of epilepsy begins with a correct characterization of the patient's seizure type. Modern treatment of seizures involves the use of an antiepileptic drug (AED) tailored to the patient's seizure type. In medically refractory epilepsy more radical treatment in the form of epilepsy surgery, vagal nerve stimulator (VNS), deep brain stimulator (DBS) and responsive nerve stimulator (RNS) may be offered. This article shall discuss the pharmacological management aspects of epilepsy.
{"title":"Treatment of Epilepsy: A Review Of Antiepileptic Drugs","authors":"N. Sethi, D. Labar, J. Torgovnick, P. Sethi, E. Arsura, E. Soto","doi":"10.5580/4ad","DOIUrl":"https://doi.org/10.5580/4ad","url":null,"abstract":"Epilepsy is among the most common disorders encountered by neurologists in their day-to-day practice. It is characterized by the occurrence of at least two or more unprovoked seizures. Effective treatment of epilepsy begins with a correct characterization of the patient's seizure type. Modern treatment of seizures involves the use of an antiepileptic drug (AED) tailored to the patient's seizure type. In medically refractory epilepsy more radical treatment in the form of epilepsy surgery, vagal nerve stimulator (VNS), deep brain stimulator (DBS) and responsive nerve stimulator (RNS) may be offered. This article shall discuss the pharmacological management aspects of epilepsy.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130998086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Phenytoin toxicity presenting as hypothermia has been reported in patients with mental retardation (MR), without causative explanation. We report a case in a patient with adrenal insufficiency. Case Report: A 50-year-old man with a history of MR and seizures was found lethargic. Medications included phenytoin and phenobarbital. Physical examination was unremarkable except for somnolence and hypothermia. The serum phenytoin level was 37 μg/mL (147 μmol/L). A cosyntropin stimulation test showed adrenal insufficiency. No infectious or inflammatory conditions were identified. The patient improved with supportive care, antibiotics and steroids. Discussion: The mechanism of phenytoin-associated hypothermia is unknown. It may be centrally mediated, or phenytoin may exert an indirect effect on hepatic steroid clearance leading to relative adrenal insufficiency. Conclusion: Significant hypothermia may occur with phenytoin toxicity. Clinicians should be alerted to this possibility and check a core temperature on patients at risk.
{"title":"Phenytoin-induced Hypothermia in a Patient with Mental Retardation","authors":"S. Soghoian, C. Heinis, M. Su","doi":"10.5580/14c3","DOIUrl":"https://doi.org/10.5580/14c3","url":null,"abstract":"Background: Phenytoin toxicity presenting as hypothermia has been reported in patients with mental retardation (MR), without causative explanation. We report a case in a patient with adrenal insufficiency. Case Report: A 50-year-old man with a history of MR and seizures was found lethargic. Medications included phenytoin and phenobarbital. Physical examination was unremarkable except for somnolence and hypothermia. The serum phenytoin level was 37 μg/mL (147 μmol/L). A cosyntropin stimulation test showed adrenal insufficiency. No infectious or inflammatory conditions were identified. The patient improved with supportive care, antibiotics and steroids. Discussion: The mechanism of phenytoin-associated hypothermia is unknown. It may be centrally mediated, or phenytoin may exert an indirect effect on hepatic steroid clearance leading to relative adrenal insufficiency. Conclusion: Significant hypothermia may occur with phenytoin toxicity. Clinicians should be alerted to this possibility and check a core temperature on patients at risk.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"105 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123184926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 28 year old previously healthy female presented with a four month history of difficulty of swallowing and drinking liquids and proximal weakness with fluctuation. At her physical examination, she had bilateral exophtalmus which were compatible with hyperthyroidism. Her facial appearance, distribution of weakness without atrophy and presence of reflex myotonia, quadriparesis, and decreased gag reflex resulted in clinical diagnosis of myasthenia gravis and myotonic dystrophy. Her medical and family history was unrevealing. Her acetylcholine receptor antibody was negative, her laboratory was normal except thyroid hormone tests, but on needle electromyography, myotonic discharges were observed and repetitive nerve stimulation was positive, and she was responsive to anticholinesterase medication. It is well known that myasthenia gravis may be seen with thyrotoxicosis and also overlapped with other autoimmune diseases. The objective of this report is to discuss the unique coexistence of two distinct neuromuscular diseases in the same patient with an overlapped disease.
{"title":"Coexistence Of Myasthenia Gravis And Myotonic Dystrophy In A Thyrotoxicosis Patient","authors":"E. Karagoz, I. Midi, T. Tanrıdag","doi":"10.5580/211","DOIUrl":"https://doi.org/10.5580/211","url":null,"abstract":"A 28 year old previously healthy female presented with a four month history of difficulty of swallowing and drinking liquids and proximal weakness with fluctuation. At her physical examination, she had bilateral exophtalmus which were compatible with hyperthyroidism. Her facial appearance, distribution of weakness without atrophy and presence of reflex myotonia, quadriparesis, and decreased gag reflex resulted in clinical diagnosis of myasthenia gravis and myotonic dystrophy. Her medical and family history was unrevealing. Her acetylcholine receptor antibody was negative, her laboratory was normal except thyroid hormone tests, but on needle electromyography, myotonic discharges were observed and repetitive nerve stimulation was positive, and she was responsive to anticholinesterase medication. It is well known that myasthenia gravis may be seen with thyrotoxicosis and also overlapped with other autoimmune diseases. The objective of this report is to discuss the unique coexistence of two distinct neuromuscular diseases in the same patient with an overlapped disease.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125260142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Sharma, B. Kumawat, T. Ralot, G. Tripathi, S. Dixit
Headache is an unusual form of presentation for underlying aortic thrombosis. Thrombosis of the abdominal aorta usually presents with vascular compromise of the lower limbs and presentation, as headache has never been reported. A high index of suspicion and adequate clinical acumen is needed in such cases. CASE REPORT We, report an unusual case of thrombosis of abdominal aorta that presented as headache. Headache is an unusual form of presentation for underlying aortic thrombosis. This 44-yearold non-hypertensive, non-diabetic, non-smoker, average built man sustained minor blunt trauma to abdomen two months ago and was asymptomatic for next one and half month. He presented with sub acute headache of two weeks duration. On admission, patient had blood pressure 240/130mmHg. Fundus examination revealed grade-IV papilloedema with soft exudates and retinal hemorrhages (Figure-1). Figure 1 No other focal neurological deficit was detected. To rule out the possibility of space occupying lesion, CT scan of brain was done and curiously it was normal. Aortic bruit was heard on auscultation. CT Angiography of aorta an intraluminal thrombus with complete occlusion of blood flow involving lower abdominal aorta from the level of origin of renal artery up to its bifurcation and extending into bilateral common iliac arteries.(Figure:2) Figure 2 No flow was seen in left renal artery. The angiographic findings also show the development of sufficient collaterals. The renal functions and other investigations related to hypertension were also within normal limits. Patient was given anti-hypertensive drugs and headache was relieved with control of blood pressure. For further treatment patient was referred to cardio thoracic surgeon. The development of malignant hypertension and secondary papilloedema was probably due to sudden renal compromise and the normal renal functions may be explained due to development of sufficient collaterals. Thrombosis of the abdominal aorta usually presents with vascular compromise of the lower limbs and presentation, as headache has never been reported. A high index of suspicion and adequate clinical acumen is needed in such cases. Abdominal Aorta Thrombosis Presenting as Headache 2 of 3 References Abdominal Aorta Thrombosis Presenting as Headache 3 of 3 Author Information Ch M Sharma Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) BL Kumawat Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) T. Ralot Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) G. Tripathi Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) S. Dixit Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India)
{"title":"Abdominal Aorta Thrombosis Presenting as Headache","authors":"C. Sharma, B. Kumawat, T. Ralot, G. Tripathi, S. Dixit","doi":"10.5580/241","DOIUrl":"https://doi.org/10.5580/241","url":null,"abstract":"Headache is an unusual form of presentation for underlying aortic thrombosis. Thrombosis of the abdominal aorta usually presents with vascular compromise of the lower limbs and presentation, as headache has never been reported. A high index of suspicion and adequate clinical acumen is needed in such cases. CASE REPORT We, report an unusual case of thrombosis of abdominal aorta that presented as headache. Headache is an unusual form of presentation for underlying aortic thrombosis. This 44-yearold non-hypertensive, non-diabetic, non-smoker, average built man sustained minor blunt trauma to abdomen two months ago and was asymptomatic for next one and half month. He presented with sub acute headache of two weeks duration. On admission, patient had blood pressure 240/130mmHg. Fundus examination revealed grade-IV papilloedema with soft exudates and retinal hemorrhages (Figure-1). Figure 1 No other focal neurological deficit was detected. To rule out the possibility of space occupying lesion, CT scan of brain was done and curiously it was normal. Aortic bruit was heard on auscultation. CT Angiography of aorta an intraluminal thrombus with complete occlusion of blood flow involving lower abdominal aorta from the level of origin of renal artery up to its bifurcation and extending into bilateral common iliac arteries.(Figure:2) Figure 2 No flow was seen in left renal artery. The angiographic findings also show the development of sufficient collaterals. The renal functions and other investigations related to hypertension were also within normal limits. Patient was given anti-hypertensive drugs and headache was relieved with control of blood pressure. For further treatment patient was referred to cardio thoracic surgeon. The development of malignant hypertension and secondary papilloedema was probably due to sudden renal compromise and the normal renal functions may be explained due to development of sufficient collaterals. Thrombosis of the abdominal aorta usually presents with vascular compromise of the lower limbs and presentation, as headache has never been reported. A high index of suspicion and adequate clinical acumen is needed in such cases. Abdominal Aorta Thrombosis Presenting as Headache 2 of 3 References Abdominal Aorta Thrombosis Presenting as Headache 3 of 3 Author Information Ch M Sharma Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) BL Kumawat Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) T. Ralot Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) G. Tripathi Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India) S. Dixit Department of Neurology, BMRC, SMS Medical College, Jaipur-Rajasthan (India)","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2007-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127418709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. The disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. Depending on the clinical type (WerdnigHoffmann = type I, intermediate form = type II, KugelbergWelander = type III), SMA causes early death or increasing disability in childhood. To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion. Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria. All of the 6 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 1 months of age, and either proximal or predominant in lower limbs .it was found that all of patients with SMA had homozygous deletions of exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, that is one of the candidate genes identified within 5q13. Fasciculations, atrophy and decreased DTR were frequent findings.Laboratory metabolic tests and all brain CT scans were normal. EMG and NCV findings all showed normal motor and SNCV and denervation of muscles of upper and lower extremities that were compatible with a diagnosis of spinal muscular atrophy. Our results confirm that SMN1 copy number analysis is an important parameter for identification of couples at risk for having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA. Molecular studies can replace conventional investigations for SMA and have made the option of prenatal diagnosis possible for couples at risk. References The Clinical and Genetic Spectrum of six patients with Spinal Muscular Atrophy from Northern Iran 2 of 2 Author Information M. S. Omran Department of Pediatric Neurology, Amirkola Pediatric Hospital, Babol medical University and Health Services A. G. Juibary Department of Pediatric Neurology, Amirkola Pediatric Hospital, Babol medical University and Health Services
{"title":"The Clinical and Genetic Spectrum of six patients with Spinal Muscular Atrophy from Northern Iran","authors":"M. S. Omran, A. G. Juibary","doi":"10.5580/152","DOIUrl":"https://doi.org/10.5580/152","url":null,"abstract":"Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. The disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. Depending on the clinical type (WerdnigHoffmann = type I, intermediate form = type II, KugelbergWelander = type III), SMA causes early death or increasing disability in childhood. To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion. Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria. All of the 6 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 1 months of age, and either proximal or predominant in lower limbs .it was found that all of patients with SMA had homozygous deletions of exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, that is one of the candidate genes identified within 5q13. Fasciculations, atrophy and decreased DTR were frequent findings.Laboratory metabolic tests and all brain CT scans were normal. EMG and NCV findings all showed normal motor and SNCV and denervation of muscles of upper and lower extremities that were compatible with a diagnosis of spinal muscular atrophy. Our results confirm that SMN1 copy number analysis is an important parameter for identification of couples at risk for having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA. Molecular studies can replace conventional investigations for SMA and have made the option of prenatal diagnosis possible for couples at risk. References The Clinical and Genetic Spectrum of six patients with Spinal Muscular Atrophy from Northern Iran 2 of 2 Author Information M. S. Omran Department of Pediatric Neurology, Amirkola Pediatric Hospital, Babol medical University and Health Services A. G. Juibary Department of Pediatric Neurology, Amirkola Pediatric Hospital, Babol medical University and Health Services","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"104 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2006-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128636608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Creutzfeldt- Jakob disease (CJD) is included under the umbrella of prior related neurodegenerative diseases. Other prior related diseases include Gerstmann-Str‰usslerScheinker (GSS), fatal familial insomnia (FFI), Kuru and new variant CJD (BSE) in humans, chronic wasting disease (CWD) in deer and scrapie in sheep. Sporadic CJD presents with rapidly progressive dementia and myoclonus. Diagnosis is typically clinical and supplemented by electroencephalography (EEG) and analysis of cerebrospinal fluid. During the course of sporadic CJD, most patients develop a characteristic picture on EEG with one second periodic or pseudoperiodic sharp waves complexes (PSWC) or spikes superimposed on a slow background (Fig 1). The sensitivity and specificity of PSWC varies from 60% to 80 % on a single EEG recorded from a suspected patient of CJD. They may not be present on the initial EEG but as the disease progresses more than 90% of the patients show the characteristic periodic EEG abnormalities. No PSWC occur in EEG recordings of patients with new variant CJD 1. Figure 1 EEG showing periodic sharp wave complexes (PSWC) in a patient with CJD.
{"title":"Images in Neurology: Periodic Sharp Wave Complexes in patient with Creutzfeldt- Jakob Disease","authors":"N. Sethi, P. Sethi, J. Torgovnick","doi":"10.5580/26ef","DOIUrl":"https://doi.org/10.5580/26ef","url":null,"abstract":"Creutzfeldt- Jakob disease (CJD) is included under the umbrella of prior related neurodegenerative diseases. Other prior related diseases include Gerstmann-Str‰usslerScheinker (GSS), fatal familial insomnia (FFI), Kuru and new variant CJD (BSE) in humans, chronic wasting disease (CWD) in deer and scrapie in sheep. Sporadic CJD presents with rapidly progressive dementia and myoclonus. Diagnosis is typically clinical and supplemented by electroencephalography (EEG) and analysis of cerebrospinal fluid. During the course of sporadic CJD, most patients develop a characteristic picture on EEG with one second periodic or pseudoperiodic sharp waves complexes (PSWC) or spikes superimposed on a slow background (Fig 1). The sensitivity and specificity of PSWC varies from 60% to 80 % on a single EEG recorded from a suspected patient of CJD. They may not be present on the initial EEG but as the disease progresses more than 90% of the patients show the characteristic periodic EEG abnormalities. No PSWC occur in EEG recordings of patients with new variant CJD 1. Figure 1 EEG showing periodic sharp wave complexes (PSWC) in a patient with CJD.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2006-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124697367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We report a case of orbitofrontal fibrous dysplasia that presented with three episodes of acute recurrent visual loss. All the episodes of vision loss were reversed by corticosteroid treatment. Though surgical intervention is generally advocated when fibrous dysplasia is associated with visual loss, corticosteroid therapy may be tried when waiting for surgery or in patients contraindicated for surgery. This is second case reported in literature for successful treatment of fibrous dysplasia associated visual loss with steroid.
{"title":"Steroid Responsive Acute Recurrent Visual Loss: An Unusual Presentation Of Fibrous Dysplasia","authors":"T. Singh, S. Singh, K. Vyas","doi":"10.5580/1804","DOIUrl":"https://doi.org/10.5580/1804","url":null,"abstract":"We report a case of orbitofrontal fibrous dysplasia that presented with three episodes of acute recurrent visual loss. All the episodes of vision loss were reversed by corticosteroid treatment. Though surgical intervention is generally advocated when fibrous dysplasia is associated with visual loss, corticosteroid therapy may be tried when waiting for surgery or in patients contraindicated for surgery. This is second case reported in literature for successful treatment of fibrous dysplasia associated visual loss with steroid.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2006-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129663375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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