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Objective To study the relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex (TSC).Methods The clinical data of 76 patients with TSC diagnosed in Guangdong 999 Brain Hospital were collected between May 2007 and May 2014 and then TSC gene mutation analysis was performed.Genotype-phenotype analyses for all the patients were also carried out.Results Fifty of the 76 (66％) patients were male,and 26 (34％) were female,in which 19 (31％) patients presented with cyst-like cortical tuber,69 (92％) with skin lesions,16 (30％) with renal lesions,50 (69％) with mental retardation and 39 still suffered seizures after a year.In this study,22 (29％) cases showed TSC1 gene mutation,31 (59％) presented TSC2 gene mutation,and 15 (20％)cases had no mutation identified.The mutation ratio of TSC1 ∶ TSC2 was approximately 3 ∶ 5,while the mutation ratio of TSC1 ∶ TSC2 was 1 ∶ 1 for familial TSC patients,and 1 ∶ 2 for sporadic TSC patients.Comparing to those with TSC1 gene mutation and no mutation identified,patients with TSC2 gene mutation exhibited statistical meaning on the aspects of the onset age of seizure (Z =1.688,P =0.007),seizure onset before l-year-old (x2 =10.584,P =0.001),epilepsy duration (x2 =4.996,P =0.025),spasms onset (x2 =10.111,P =0.001),cyst-like cortical tuber (x2 =9.182,P =0.002),skin lesions (x2 =9.016,P =0.003),as well as renal lesions (x2 =6.079,P =0.014).No apparent relation was found between genotype and intelligence outcome.Conclusions The patients with TSC2 gene mutations presented severer symptoms in seizure onset than those with TSC1 gene mutation and no mutation identified.The patients with TSC2 gene mutation were characterized by early onset of seizure,especially before 1-year-old,others like spasms onset,cyst-like cortical tuber,skin lesions,as well as renal lesions being more vulnerable.Therefore,more active treatment should be given to the patients with TSC2 gene mutation.
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Objective To explore the common causes of epilepsy and the etiologic characteristics in different age groups of patients with epilepsy.Methods A retrospective survey was made in 5572 epilepsy patients in Epileptic Center of Guangdong 999 Brain Hospital from January 2003 to December 2009.According to the diagnostic criteria published in 2005 from ILAE,all the diagnoses of 5572 cases were made by epileptic specialists.Based on history,cranial MRI or CT and pathologic data,causes of epilepsy were classified into idiopathic,symptomatic and cryptogenic epilepsy.The cases of symptomatic epilepsy were further arranged into different categories in different age grades,such as head trauma,perinatal injuries,infection in central nervous system, cerebral vascular disease, brain tumor, disorders of cortical development,neurocutaneous syndrome and others.The cases with febrile seizures and family history were collected,and positive ratio of febrile seizures and family history were contrasted in different categories of cases by Kruskal-Wallis test ( nonparametric test ).Results In 5572 cases,66 were idiopathic,2834 symptomatic,2672 cryptogenic,and the ratio of these causes was 1％,51％,48％ respectively.Among 2834 cases of symptomatic epilepsy,822 were head trauma,497 were perinatal injuries,360 were infection in central nervous system,249 were brain tumor,150 were cerebral vascular disease,135 were disorders of cortical development,62 were neurocutaneous syndrome and 559 were others. In brief,head trauma,perinatal injuries,infection in central nervous system,brain tumor and cerebral vascular disease were top 5 causes of symptomatic epilepsy. Hippocampal sclerosis was found in 744 cases in those of eryptogenic epilepsy.The importance of febrile seizures( idiopathic:15.2％ ( 10/66 ),symptomatic:6.5％ ( 185/2834 ),cryptogenic:9.4％ ( 250/2672 ) ; x2 =181.393,P =0.000 ) and family history ( idiopathic:83.3％ ( 55/66 ),symptomatic:1.1％ (31/2834),cryptogenic:0.4％ (12/2672) ; x2 =68.354,P =0.000) was statistically different in different causes of epilepsy.Febrile seizures was the most frequent in cases with hippocampal sclerosis than those with other causes,and family history was the most frequent in neurocutaneous syndrome in symptomatic cases.Perinatal injurics was thc first causc in cases of infancy and childhood,head trauma was the top one in those of juvenile and adulthood,and cerebral vascular disease was the main cause in senile cases. Conclusions In the whole epileptic cases of 5572, 1％ was idiopathic,51％ was symptomatic,and 48％ cryptogenic. The main causes of them were head trauma,perinatal injuries,infection in central nervous system,brain tumor,and cerebral vascular disease.
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Objective To determine the cost effect for cranial CT scans in epileptic patients.Methods The newly diagnosed epileptic patients from 1995 to 2000 were prospectively investigated by cranial CT scan in our clinic for epilepsy. The cost for finding a case of significant pathology was estimated to determine the cost effect of cranial CT scan in patients.Results 572 cases of generalized and 172 of partial epileptic patients were studied. 32% of the overall abnormalities were found by CT scan in all patients, but specific abnormalities were only found in 10% of the patients. None of 480 generalized patients without focal abnormalities in neurological and/or EEG examinations was found having clinically important abnormalities by using CT, the cost for finding a case of significant pathology was estimated to need at least 64 214 yuan. While 50% partial seizure patients having focal abnormalities in the examinations, were found having specific abnormalities by CT, the cost of finding a case of significant pathology was estimated to be 800 yuan (Cost for a CT scan about 400 yuan in our hospital).Conclusion When there is a shrinking availability of health care money, especially in developing countries, CT scan evaluation for a neurological normal patient with generalized seizures is expensive that the cost effect analysis should be taken into account.
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The authors report 105 cases of neurologic manifestation ia 822 patients with pulmonary carcinoma, with an incidence of neurological complication of 19.5%. The neurologic manifestations were the first symptom in 64 cases (61%), which showed orderly as headache, hemi-plegia, seizure, paraplegia, mental sympioms, backache, vertigo, sciatica, facial palsy, etc. In these 105 cases there were 93 suffered metastasis, which involved cerebrum, spinal cord, meninges, cerebellum etc. Twelve patients were nonmetastatic, among whom, carcinomaious encephalopathy, myopathy, dermtomyositis etc were observed