THE SEIZURE AS A MANIFESTATION OF INTRACRANIAL TUMOR IN CHILDHOOD

PEDIATRICS ◽  
1962 ◽  
Vol 29 (6) ◽  
pp. 978-984
Author(s):  
Reno E. Backus ◽  
J. Gordon Millichap
Keyword(s):  
Cerebral Cortex ◽  
Age At Onset ◽  
Intracranial Tumor ◽  
Total Group ◽  
Sharp Wave ◽  
Initial Symptoms ◽  
Tumor In Childhood ◽  
Supratentorial Tumors ◽  
Infratentorial Tumors

The records of 291 children treated over a 10-year period for intracranial tumor were examined, with particular attention to patients with seizures. Seizures occurred in 17% of the total group—in 25% of patients with supratentorial tumors and in 12% of those with infratentorial tumors. They were the initial symptoms in 15% of patients with supratentorial tumors and in 1% of those with infratentorial tumors. The average age at onset was 4.9 years in the supratentorial group and 4.8 years in the infratentorial group. The diagnosis of supratentorial tumors was delayed for an average of 2 years, whereas infratentorial tumors were diagnosed within an average time of 3 months of the initial seizure. Eight patients continued to have seizures for periods between 3 and 8 years before a tumor was suspected. The pattern of the initial seizure was of localizing value in 75% of patients with supratentorial tumors that involved the cerebral cortex and in 16% of patients with infratentorial tumors. In patients with seizures the electroencephalogram was of localizing value in 92% of tumors that involved the cerebral cortex, and abnormalities maximal in the occipital areas were compatible with the localization of 44% of infratentorial tumors. Spike, sharp wave, or spike and wave seizure discharges were present in 32% of patients with supratentorial tumors.

scholarly journals Optic Nerve and Spinal Cord Are the Major Lesions in Each Relapse of Japanese Multiple Sclerosis

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Yoko Warabi
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Optic Nerve ◽  
Medical Records ◽  
Age At Onset ◽  
Demyelinating Diseases ◽  
Brainstem Lesion ◽  
Spinal Lesions ◽  
Initial Symptoms ◽  
Relapsing Remitting

For the purpose of predicting multiple sclerosis (MS) and neuromyelitis optica (NMO) relapses in Japanese population, we evaluated the localization and age of each demyelinating attack. We retrospectively analyzed the 78 medical records of Japanese MS and NMO patients. Then we identified 49 cases of relapsing-remitting-type patients and defined each of 116 demyelinating attacks. NMO had an older age at onset than MS, although the initial symptoms cannot predict the clinical phenotypes. Only 21.3% of demyelinating attacks were localized in the cerebrum and 78.7% were optic-spinal lesions, although MS comprised 70% and NMO comprised 30% of these 78 cases. Brainstem lesion had a relative male predominancy and a young age at attack. Our findings showed that optic nerve and spinal cord lesions are the major and critical lesions in each attack of Japanese CNS demyelinating diseases. There might be distinctive Japanese pathogenic features even in Western type MS.

scholarly journals Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Wo-Tu Tian ◽  
Fei-Xia Zhan ◽  
Qing Liu ◽  
Xing-Hua Luan ◽  
Chao Zhang ◽  
...  
Keyword(s):  
Western Blotting ◽  
Age Of Onset ◽  
Neuropsychiatric Symptoms ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Brain Biopsy ◽  
Loss Of Function ◽  
Wild Type ◽  
Axonal Spheroids ◽  
Initial Symptoms

Abstract Background CSF1R-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (CSF1R) gene mutation. Few of CSF1R mutations have been functionally testified and the pathogenesis remains unknown. Methods In order to investigate clinical and pathological characteristics of patients with CSF1R-related leukoencephalopathy and explore the potential impact of CSF1R mutations, we analyzed clinical manifestations of 15 patients from 10 unrelated families and performed brain biopsy in 2 cases. Next generation sequencing was conducted for 10 probands to confirm the diagnosis. Sanger sequencing, segregation analysis and phenotypic reevaluation were utilized to substantiate findings. Functional examination of identified mutations was further explored. Results Clinical and neuroimaging characteristics were summarized. The average age at onset was 35.9 ± 6.4 years (range 24–46 years old). Younger age of onset was observed in female than male (34.2 vs. 39.2 years). The most common initial symptoms were speech dysfunction, cognitive decline and parkinsonian symptoms. One patient also had marked peripheral neuropathy. Brain biopsy of two cases showed typical pathological changes, including myelin loss, axonal spheroids, phosphorylated neurofilament and activated macrophages. Electron microscopy disclosed increased mitochondrial vacuolation and disorganized neurofilaments in ballooned axons. A total of 7 pathogenic variants (4 novel, 3 documented) were identified with autophosphorylation deficiency, among which c.2342C > T remained partial function of autophosphorylation. Western blotting disclosed the significantly lower level of c.2026C > T (p.R676*) than wild type. The level of microtubule associated protein 1 light chain 3-II (LC3-II), a classical marker of autophagy, was significantly lower in mutants expressed cells than wild type group by western blotting and immunofluorescence staining. Conclusions Our findings support the loss-of-function and haploinsufficiency hypothesis in pathogenesis. Autophagy abnormality may play a role in the disease. Repairing or promoting the phosphorylation level of mutant CSF1R may shed light on therapeutic targets in the future. However, whether peripheral polyneuropathy potentially belongs to CSF1R-related spectrum deserves further study with longer follow-up and more patients enrolled. Trial registration ChiCTR, ChiCTR1800015295. Registered 21 March 2018.

scholarly journals Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation

2010 ◽  
Vol 54 (8) ◽  
pp. 738-743 ◽  
Author(s):  
Fernanda Caroline Soardi ◽  
Adriana Mangue Esquiaveto-Aun ◽  
Gil Guerra-Júnior ◽  
Sofia Helena Valente de Lemos-Marini ◽  
Maricilda Palandi de Mello
Keyword(s):  
Present Report ◽  
Phenotypic Variability ◽  
Age At Onset ◽  
Phenotypic Expression ◽  
Gene Mutations ◽  
Inherited Disease ◽  
Hematopoietic Stem ◽  
Initial Symptoms ◽  
Abcd1 Gene ◽  
Gene Study

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.

The Natural History of Cold Agglutinin Disease

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 5152-5152
Author(s):  
Paul L Swiecicki ◽  
Livia Hegerova ◽  
Morie A Gertz
Keyword(s):  
Drug Therapy ◽  
Hemolytic Anemia ◽  
Age At Onset ◽  
Disease Diagnosis ◽  
Cold Agglutinin ◽  
Common Symptom ◽  
Cold Agglutinin Disease ◽  
Treatment Regimens ◽  
Hematologic Disorder ◽  
Initial Symptoms

Abstract Abstract 5152 Introduction: Cold agglutinin disease (CAD) is a rare and poorly understood disorder accounting for 15% of patients with autoimmune hemolytic anemia. Treatment has been largely controversial with few studies addressing safety and efficacy of various treatment regimens. This study reports a single institution's experience with cold agglutinin disease, defines the clinical features, prognosis and management. Methods: A retrospective analysis of Mayo Clinic medical records since 1960 was performed to identify all cases of CAD. Initial appraisal identified 89 patients after which an in depth review of clinical notes, laboratory evaluations, and treatment regimens was performed. Statistical analysis was performed via descriptive statistics and Kaplan-Meier survival. Results: The median age at onset of symptoms was 65 years (range: 40, 82), while the median age at diagnosis was 72 (42, 91). The most common sign at presentation was anemia (38. 4%). The most common symptom during the course of disease was similarly finger discoloration (43. 8%). Over half of patients had symptoms that were triggered by a cold environment (52. 8%) and a minority (22. 5%) had exacerbations precipitated by other factors. The median time from onset of symptoms to time of disease diagnosis was 37 months (0, 374). The majority of patients had an underlying hematologic disorder (48. 3%) of which the most common was monoclonal gammopathy of undetermined significance. At diagnosis the average hemoglobin was 10. 2 (6. 2, 17. 7) with positive coombs testing in 75% of patients. All patients had documented positive cold agglutinin titers. Approximately 40% of patients received transfusions at some point during their disease course and 83% needed drug therapy at some point. The most common reason to initiate drug treatment was progressive anemia (44. 9%). In 15% of patients, CAD was able to be managed with watchful waiting. The median duration between initial symptoms to initiation of treatment was 60 months. 56. 2% and 33. 7% of patients required second and third line therapy respectively. Treatment characteristics and responses are displayed in Table 1. Rituximab showed the longest duration of response and had the lowest percentage of patients needing further treatment, while 4 out of 5 patients on prednisone required additional therapies. Median survival in all patients with CAD was 127. 5 months and 76. 9% of patients were alive at 5-years after diagnosis (Figure 1). Conclusions: This is the largest study of patients with cold agglutinin disease to date. Symptoms were frequently ill-defined resulting in delay of diagnosis. Although drug therapy was frequently indicated, many patients were successfully observed. New treatment agents including Rituximab demonstrate promising response rates compared to traditional regimens, especially in patients with underlying hematologic abnormalities. These results support consideration of CAD as part of the differential diagnosis in the setting of new onset anemia and re-enforces the importance of evaluation for underlying B Cell abnormality in this patient population. Disclosures: Off Label Use: Rituximab, Cyclophosphomide, Chlorambucil, and Prednisone will be discussed as therapy modalatities for the treatment of cold agglutinin hemolytic anemia.

scholarly journals The Association betweenLRRK2G2385R and Phenotype of Parkinson’s Disease in Asian Population: A Meta-Analysis of Comparative Studies

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Wei Di ◽  
Zhiyong Zeng ◽  
Jingyan Li ◽  
Xiaoling Liu ◽  
Minzhi Bo ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Clinical Characteristics ◽  
Disease Duration ◽  
Meta Analysis ◽  
Age At Onset ◽  
Asian Population ◽  
Related Case ◽  
Initial Symptoms

Numerous studies have investigated the relationship between theLRRK2G2385R variant and clinical characteristics in Parkinson’s disease (PD), but the results have been inconsistent. This study investigated whether theLRRK2G2385R variant was associated with a unique clinical phenotype of PD in the Asian population, using a meta-analysis. The PubMed, Web of Science, EMBASE, CNKI, and WANFANG databases were searched until September 2017. The strict selection criteria and exclusion criteria were determined, and mean differences (MD) or odds ratios (OR) with 95% confidence intervals (CI) were used to assess the strength of associations. Statistical analyses and graphics were performed using Review Manager 5.3. Sixteen related case-control studies were included in the meta-analysis. TheLRRK2G2385R carriers significantly more often presented a family history (OR: 1.98; 95% CI: 1.16−3.39;P=0.01) and had a longer disease duration (MD = 0.47, 95% CI: 0.01−0.93,P=0.04) and a higher MMSE score (MD = 1.02, 95% CI: 0.43–1.62P=0.0007) thanLRRK2G2385R noncarriers. There were no significant differences in sex distribution, age at onset, initial symptoms, motor symptoms, depression, levodopa-equivalent dose, and related complications betweenLRRK2G2385R-carrier andLRRK2G2385R-noncarrier PD patients. Our results suggested that most of the clinical characteristics of PD patients withLRRK2G2385R mutations are similar to those ofLRRK2G2385R noncarriers among Asian PD patients, except for the more common family history, relatively longer disease duration, and higher MMSE scores in the former group.

AN EVALUATION OF ELECTROENCEPHALOGRAPHY IN THE DIAGNOSIS OF BRAIN TUMORS OF CHILDREN

PEDIATRICS ◽  
1949 ◽  
Vol 4 (1) ◽  
pp. 114-119
Author(s):  
JOHN F. DRUMHELLER ◽  
HADDOW M. KEITH ◽  
REGINALD G. BICKFORD
Keyword(s):  
Cerebral Cortex ◽  
Brain Tumors ◽  
Brain Stem ◽  
Posterior Fossa ◽  
Clinical History ◽  
Occipital Region ◽  
Diagnostic Aid ◽  
The Brain ◽  
Supratentorial Tumors

A study was made of the electroencephalograms of 50 children who had proved neoplasms of the brain. In 9 of 12 children who had tumors of the cerebral cortex, the localization afforded by the EEG was correct. In 8 children who had supratentorial tumors of or near the brain stem no localizing or consistent electroencephalographic pattern was observed. In 21 (70%) of 30 children who had tumors of the posterior fossa a bilateral abnormality was observed in the EEG recorded from the occipital region or occipital and contiguous regions. It is acknowledged that the abnormality found in this last group also is found occasionally in conditions other than in brain tumors of the posterior fossa. These conditions usually can be excluded by use of the history and other laboratory aids. Electroencephalography in the study of brain tumors in children should not be considered as an infallible test but rather as a diagnostic aid to be used and evaluated with the help of a clinical history and other diagnostic and laboratory aids.

scholarly journals Early Clinical Features, Time to Secondary Progression, and Disability Milestones in Polish Multiple Sclerosis Patients

Medicina ◽  
2019 ◽  
Vol 55 (6) ◽  
pp. 232 ◽  
Author(s):  
Łukasz Rzepiński ◽  
Monika Zawadka-Kunikowska ◽  
Zdzisław Maciejek ◽  
Julia L. Newton ◽  
Paweł Zalewski
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Features ◽  
Age At Onset ◽  
Disease Onset ◽  
Initial Symptoms ◽  
Disability Status ◽  
Relapsing Remitting ◽  
Disease Variant ◽  
Multiple Sclerosis Patients

Background and Objectives: Determining the clinical course of multiple sclerosis (MS) and prediction of long-term disability can be a big challenge. To determine early clinical features of MS, their influence on long-term disability progression, and time to transition from relapsing-remitting MS (RRMS) to secondary progressive MS (SPMS), a cohort of Polish patients was studied. Materials and Methods: We retrospectively evaluated 375 Polish MS patients based on data from available medical records. We assessed early clinical MS features and the relationship between demographics and time from disease onset to attainment of 4 and 6 points on the Expanded Disability Status Scale (EDSS), as well as time to conversion from RRMS to SPMS. Results: The differences between initial MS variants were significantly associated with gender, age at disease onset, number and type of the first symptoms, and rate of the disability accrual. Mean times from disease onset to attainment of EDSS 4 and 6 were significantly influenced by the disease variant, age at onset, gender, degree of recovery from the initial symptoms, and first inter-bouts interval. The mean time to secondary progression was significantly influenced by the number and type of the first symptoms of RRMS. Conclusions: Early clinical features of MS are important in determining the disease variant, the time to transition from RRMS to SPMS, as well as predicting the disability accumulation of patients. Despite the small differences regarding the first MS symptoms, the disability outcomes in the cohort of Polish patients are similar to other regions of the world.

scholarly journals Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yung-Shuan Lin ◽  
Chih-Ya Cheng ◽  
Yi-Chu Liao ◽  
Chen-Jee Hong ◽  
Jong-Ling Fuh
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Mutational Analysis ◽  
Age At Onset ◽  
Positive Family History ◽  
Han Chinese ◽  
White Matter Hyperintensity ◽  
Brain White Matter ◽  
Initial Symptoms ◽  
Neurological Features

AbstractMutations in PSEN1, PSEN2, or APP genes are known to be causative for autosomal dominant Alzheimer’s disease (ADAD). While more than 400 mutations were reported worldwide, predominantly PSEN1, over 40 mutations have been reported in Han Chinese and were associated with earlier onset and more affected family members. Between 2002 and 2018, 77 patients in the neurological clinic of Taipei Veterans General Hospital with a history suggestive of ADAD were referred for mutational analysis. We retrospectively collected demographics, initial symptoms, neurological features and inheritance. We identified 16 patients with PSEN1 and 1 with APP mutation. Among the mutations identified, PSEN1 p.Pro117Leu, p.Met146Ile, p.Gly206Asp, p.Gly209Glu, p.Glu280Lys and p.Leu286Val and APP p.Asp678His were known pathogenic mutations; PSEN1 p.His131Arg and p.Arg157Ser were classified as likely pathogenic and variance of unknown significance respectively. The mean age at onset was 46.2 ± 6.2 years in patients with mutation found. PSEN1 p.Met146Ile, occurred in 56.2% (9/16) of patients with PSEN1 mutations, was the most frequent mutation in the cohort. The additional neurological features occurring in 9 PSEN1 p.Met146Ile index patients were similar with the literature. We found patients with genetic diagnoses were more likely to have positive family history, younger age at onset and less brain white matter hyperintensity.

BRAIN TUMORS IN CHILDREN

PEDIATRICS ◽  
1949 ◽  
Vol 3 (6) ◽  
pp. 839-844
Author(s):  
HADDOW M. KEITH ◽  
WINCHELL MCK. CRAIG ◽  
JAMES W. KERNOHAN
Keyword(s):  
Glioblastoma Multiforme ◽  
Brain Tumors ◽  
Mayo Clinic ◽  
Survival Period ◽  
Age Group ◽  
Group 6 ◽  
The Brain ◽  
Supratentorial Tumors ◽  
Infratentorial Tumors

Twenty-four per cent of brain tumors of children aged less than 15 years were found to be astrocytomas, 20% were medulloblastomas and 11% were ependymomas. If the astroblastomas (3%) and ependymoblastomas (3%) are added to these, these groups of tumors comprise 61% of all brain tumors of children. Gliomas constituted 84% of all the tumors in children. Six tumors were found in infants 1 year of age or less. The youngest infants were 2 months old. Astrocytomas were slightly more common in children aged 5 years or less than in the older group. Medulloblastomas and ependymomas were distinctly more common in the younger group than in the older group. Seventy-one per cent of tumors in the age group from birth through 5 years of age were infratentorial; 28% were supratentorial; 1 tumor (1%) was both infratentorial and supratentorial. In the group 6 through 14 years of age, 64% were infratentorial and 36% were supratentorial. Thirty per cent of infratentorial tumors were astrocytomas and 30% were medulloblastomas. Sixteen per cent of supratentorial tumors were craniopharyngiomas, 12% were astrocytomas and 12% were glioblastoma multiforme. Under present conditions at the Mayo Clinic, 54% of all children who undergo operation for tumor of the brain survive for six months or more. Of 256 patients observed for five years or more after operation, 13.3% survive for at least five years. The longest survival period was 20 years after operation. This patient had had an astrocytoma removed in 1926.

Influences of Age at Onset of Blindness on Braille Reading Performances with Left and Right Hands

1995 ◽  
Vol 81 (1) ◽  
pp. 131-141 ◽  
Author(s):  
Eliana Sampaio ◽  
Jean Philip
Keyword(s):  
Cerebral Cortex ◽  
Visual Experience ◽  
Right Hemisphere ◽  
Sensory Deprivation ◽  
Age At Onset ◽  
Learning To Read ◽  
Left Hand ◽  
Left And Right ◽  
Total Blindness ◽  
The Right

Several previous studies suggest that early sensory deprivation produces a changed organisation of the cerebral cortex. This study compared the effects of early and late total blindness on a Braille reading task. This task is intended to induce a superiority of the left hand rather than the right because of the particular role played by the right hemisphere in Braille decoding. 38 strongly right-handed adults, accustomed to daily bimanual Braille reading, were tested. 21 subjects were born blind and 17 became blind during childhood before learning to read. Analysis indicated that previous visual experience can, under certain conditions, play a modulating role in manual superiority in Braille reading.

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