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1.
Pediatr Blood Cancer ; 66(11): e27917, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31347764

RESUMO

Low-grade gliomas (LGG) are among the most common types of brain tumors in children and young adults. These tumors often consist of solid and cystic components. Bevacizumab is a documented treatment for progressive LGG, yet the impact of therapy on the cystic component of these tumors is unknown. We present four patients with prominently cystic LGG treated with bevacizumab at the time of progression. In each case, the cystic component responded to treatment. This is the first known study to investigate bevacizumab's impact on the cystic component of low-grade gliomas.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Cistos do Sistema Nervoso Central/tratamento farmacológico , Glioma/tratamento farmacológico , Neoplasias da Coluna Vertebral/tratamento farmacológico , Vértebras Torácicas , Adolescente , Adulto , Astrocitoma/irrigação sanguínea , Astrocitoma/diagnóstico por imagem , Astrocitoma/radioterapia , Astrocitoma/cirurgia , Edema Encefálico/tratamento farmacológico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Neoplasias do Tronco Encefálico/irrigação sanguínea , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/tratamento farmacológico , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/fisiopatologia , Criança , Pré-Escolar , Terapia Combinada , Irradiação Craniana , Procedimentos Cirúrgicos de Citorredução , Feminino , Ganglioglioma/complicações , Ganglioglioma/diagnóstico por imagem , Ganglioglioma/tratamento farmacológico , Ganglioglioma/cirurgia , Glioma/diagnóstico por imagem , Glioma/terapia , Humanos , Masculino , Compressão da Medula Espinal/tratamento farmacológico , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia
2.
World Neurosurg ; 123: e147-e155, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30468924

RESUMO

BACKGROUND: Pineal cysts (PCs) are histologically benign lesions of the pineal gland. Although the majority of PCs are asymptomatic, some cases are ambiguous and accompanied by nonspecific symptoms of variable severity. We suggested that disabling headache in nonhydrocephalic patients with PCs is associated with cerebral aqueduct (CAq) stenosis. METHODS: A retrospective analysis was conducted in patients with PCs suffering from headache without secondary hydrocephalus who underwent surgical resection at Burdenko Neurosurgery Center between 1995 and 2016. All available medical records and radiographic images were retrospectively assessed in these patients. The comparison groups included 22 patients with nonoperated PCs and 25 healthy individuals. Specific magnetic resonance imaging measures were selected to assess the morphometry of the CAq and degree of the stenosis. RESULTS: In 25 patients (82%) we observed clinical improvement after surgery in a follow-up period. Among those with improvement, 10 of them (40%) experienced total relief and 15 of them (60%) had marked headache diminishment. In 5 patients the headache remained persistent. The preoperative rostral CAq diameter appeared to be significantly narrower (P = 0.0011045), and the preoperative rostral/caudal diameter ratio (Rd/Cd) was found to be lower (P = 0.004391) in patients who recovered from headache versus those who did not. CONCLUSION: The results indicate a statistically significant relationship between the changes in the CAq morphometrics and the clinical outcome in postoperative period. Surgical removal of symptomatic pineal cysts in patients without hydrocephalus can be considered as an effective treatment. However, a thorough preoperative examination and patient selection should be conducted in every case.


Assuntos
Cistos do Sistema Nervoso Central/complicações , Cefaleia/etiologia , Hidrocefalia/etiologia , Pinealoma/complicações , Adolescente , Adulto , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Criança , Pré-Escolar , Feminino , Cefaleia/diagnóstico por imagem , Cefaleia/fisiopatologia , Cefaleia/cirurgia , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/fisiopatologia , Hidrocefalia/cirurgia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos , Pinealoma/diagnóstico por imagem , Pinealoma/fisiopatologia , Pinealoma/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
3.
J Stroke Cerebrovasc Dis ; 27(3): 517-521, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29174879

RESUMO

BACKGROUND: Brain arteriovenous malformation (BAVM) is a life-threatening vascular congenital malformation due to the risk of intracerebral hemorrhage. The formation of a spontaneous cyst within a BAVM, without history of hemorrhage or gamma knife surgery, is rare and has an unknown pathophysiology. We suggest a novel theory of spontaneous cystic BAVM formation, subsequently treated with endovascular embolization followed by surgery with a favorable long-term outcome. METHODS: Review of the literature using PUBMED database and comparison between clinical presentation, diagnostic imaging studies, and treatment options. RESULTS: The high flow causing a shear stress over the drainage vein may be responsible for venous ectasia and thus incrementing hydrostatic intranidal pressure causing a serous effusion that develops into a pseudocyst. We hypothesize that hemodynamic factors may be responsible for both origin and growth of such cystic lesions. CONCLUSIONS: Endovascular treatment allowed us to achieve cyst volume reduction by managing its unique flow characteristics. To our knowledge, this is the first case report of combined treatment with endovascular and surgical approach of a cystic BAVM.


Assuntos
Neoplasias Encefálicas/terapia , Cistos do Sistema Nervoso Central/terapia , Embolização Terapêutica , Malformações Arteriovenosas Intracranianas/terapia , Procedimentos Neurocirúrgicos , Adulto , Angiografia Digital , Biópsia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/fisiopatologia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/fisiopatologia , Angiografia Cerebral/métodos , Circulação Cerebrovascular , Terapia Combinada , Hemodinâmica , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Resultado do Tratamento
4.
J Neurol Sci ; 382: 142-145, 2017 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-29111009

RESUMO

BACKGROUND: Coats plus syndrome is a recently described, very rare multisystem disorder. The clinical phenotype is wide and variable, which making the diagnosis more difficulty. The genetic study of Coats plus syndrome has been reported recently. The biallelic heterozygous mutations in CTC1 gene, encoding conserved telomere maintenance component 1, were identified in families with Coats plus from different ancestry (European, American, and African). To data, there has not been a report about genetically confirmed Coats plus syndrome from China. RESULTS: We firstly identify a novel biallelic heterozygous missense variants (c.775G>A p.V259M and c.2066A>G p.Y689C) of CTC1 gene in a Chinese family with Coats plus. The c.2066A>G mutation (p.Y689C) in CTC1 is a novel variant. Such variant was not found in any of the 85 healthy individuals in the same community. CONCLUSION: This is the first report of a genetically confirmed case of Coats plus from China. Targeted sequencing of CTC1 gene is useful for genetic diagnosis in Coats plus and differential diagnosis for other patients with similar disease manifestations.


Assuntos
Ataxia/genética , Neoplasias Encefálicas/genética , Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Leucoencefalopatias/genética , Espasticidade Muscular/genética , Mutação de Sentido Incorreto , Doenças Retinianas/genética , Convulsões/genética , Proteínas de Ligação a Telômeros/genética , Grupo com Ancestrais do Continente Asiático/genética , Ataxia/diagnóstico por imagem , Ataxia/patologia , Ataxia/fisiopatologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/fisiopatologia , Calcinose/diagnóstico por imagem , Calcinose/patologia , Calcinose/fisiopatologia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/fisiopatologia , China , Família , Feminino , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/patologia , Leucoencefalopatias/fisiopatologia , Espasticidade Muscular/diagnóstico por imagem , Espasticidade Muscular/patologia , Espasticidade Muscular/fisiopatologia , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/patologia , Doenças Retinianas/fisiopatologia , Convulsões/diagnóstico por imagem , Convulsões/patologia , Convulsões/fisiopatologia , Adulto Jovem
5.
Clin Genet ; 92(2): 180-187, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28177126

RESUMO

BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct. Mutations in CTS telomere maintenance complex component 1 (CTC1) and small nucleolar RNA, C/D box 118 (SNORD118) genes have been found to cause Coats plus and LCC, respectively. MATERIALS AND METHODS: Eight unrelated families with LCC were recruited. These patients typically showed major neuroradiological findings of LCC with no signs of extra-neurological manifestations such as retinal abnormality, gastrointestinal bleeding, or hematological abnormalities. SNORD118 was examined by Sanger sequencing in these families. RESULTS: Seven out of eight probands carry compound heterozygous mutations, suggesting that SNORD118 mutations are the major cause of LCC. We identified a total of eight mutation, including four that were novel. Some of the variants identified in this study present heterozygously in public databases with an extremely rare frequency (<0.1%). CONCLUSION: Biallelic SNORD118 mutations were exclusively found in most unrelated families with LCC.


Assuntos
Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Predisposição Genética para Doença , Leucoencefalopatias/genética , RNA Nucleolar Pequeno/genética , Adulto , Alelos , Encéfalo/fisiopatologia , Calcinose/epidemiologia , Calcinose/fisiopatologia , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos/genética , Bases de Dados Factuais , Feminino , Heterozigoto , Humanos , Leucoencefalopatias/epidemiologia , Leucoencefalopatias/fisiopatologia , Masculino , Mutação , Proteínas de Ligação a Telômeros/genética
6.
J AAPOS ; 21(1): 52-56, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-28089743

RESUMO

PURPOSE: To demonstrate how multichannel visual evoked potentials (VEPs) can provide quantitative measures of visual function in children with marked cortical anatomy abnormalities. METHODS: Four children with marked brain pathology (2 holoprosencephaly, 2 giant interhemispheric cysts with hydrocephalus) underwent pattern reversal and flash VEP recordings from 16 equally distributed electrodes. Voltage maps of the major VEP components were constructed, and their distributions were compared to the magnetic resonance imaging (MRI) findings. RESULTS: No reproducible responses were evident in 1 case, and responses were present, but, as expected based on the MRI finding, not over the occipital electrodes in 3 cases. Thus, the standard clinical VEP electrode placement would not have detected responses. The distribution of responses during monocular testing obtained in 2 cases suggested normal decussation of the visual pathways at the chiasm, and voltage mapping indicated which part of the abnormally positioned brain tissue is functional visual cortex. CONCLUSIONS: In children with markedly abnormal brain anatomy, multichannel VEP recordings can provide quantifiable measures of visual pathway function detected in atypical locations. VEPs provide a quantifiable measure of visual function that could be used to assist in determining visual acuity levels, and offered a baseline for monitoring in the context of raised intracranial pressure. These recordings were also able to identify functional anatomical structures that were not apparent on MRI. In a clinical setting, the use of additional recordings from nonstandard electrode placement based on the MRI findings is suggested.


Assuntos
Cistos do Sistema Nervoso Central/fisiopatologia , Potenciais Evocados Visuais/fisiologia , Holoprosencefalia/fisiopatologia , Hidrocefalia/fisiopatologia , Vias Visuais/fisiopatologia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Pré-Escolar , Feminino , Holoprosencefalia/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Hipertensão Intracraniana/fisiopatologia , Imagem por Ressonância Magnética , Acuidade Visual/fisiologia , Córtex Visual/fisiopatologia
7.
Medicine (Baltimore) ; 96(1): e5545, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28072696

RESUMO

RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability. PATIENT CONCERNS: The 23-year-old female patient firstly presented with an adolescence onset of ophthalmological manifestations. Four years later, hematological and neurological disorders occurred, the latter of which demonstrated a relatively slow progression in the following 7 years preceding her presentation to our hospital. INTERVENTIONS: During hospitalization, disorders involving digestive, cardiovascular and respiratory systems were also detected. In addition, a more comprehensive depiction of neurological disorders on neuroimaging was also obtained. DIAGNOSES: On the basis of multiple system disorders and the detection of mutations in conserved telomere maintenance component 1(CTC1) gene, a diagnosis of CRMCC was made. OUTCOMES: After supportive therapy during her 4-week hospitalization, the patient's general condition improved and was released from the hospital. LESSONS: CRMCC could be primarily diagnosed with the aid of its multiple system disorders and remarkable neuroimaging features. Cerebral micro hemorrhages determined by the combination of CT and T2-weighted magnetic resonance images in our case could provide some additional information for diagnosis. Furthermore, several other associated disorders were depicted for the first time in our case, expanding the clinical spectrum of CRMCC.


Assuntos
Assistência ao Convalescente/métodos , Ataxia , Neoplasias Encefálicas , Encéfalo , Calcinose , Cistos do Sistema Nervoso Central , Leucoencefalopatias , Espasticidade Muscular , Neuroimagem/métodos , Doenças Retinianas , Convulsões , Proteínas de Ligação a Telômeros/genética , Adulto , Ataxia/diagnóstico , Ataxia/genética , Ataxia/fisiopatologia , Ataxia/terapia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/fisiopatologia , Neoplasias Encefálicas/terapia , Calcinose/diagnóstico , Calcinose/genética , Calcinose/fisiopatologia , Calcinose/terapia , Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/genética , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/terapia , Diagnóstico Diferencial , Gerenciamento Clínico , Progressão da Doença , Feminino , Humanos , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Leucoencefalopatias/fisiopatologia , Leucoencefalopatias/terapia , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/genética , Espasticidade Muscular/fisiopatologia , Espasticidade Muscular/terapia , Mutação , Espectroscopia de Prótons por Ressonância Magnética/métodos , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Doenças Retinianas/fisiopatologia , Doenças Retinianas/terapia , Convulsões/diagnóstico , Convulsões/genética , Convulsões/fisiopatologia , Convulsões/terapia
8.
Pituitary ; 19(1): 57-64, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26464354

RESUMO

PURPOSE: The purpose of this study was to determine the effect of transsphenoidal surgery for Rathke's cleft cyst(RCC) on headache frequency, severity, and duration. METHODS: The medical records of 43 consecutive patients who underwent transsphenoidal resection of a pathologically-proven RCC at our institution by the senior author (E.R.L.) between April 2008 and April 2014 were reviewed. Patients were called by telephone and asked to answer questions about the severity, location, type, duration,and quality of their headaches, both pre- and postoperatively.This information was joined with detailed data collected directly from each patient's medical record regarding headaches upon presentation and at 1-week,6-week, 3-month, and annual post-operative appointments. RESULTS: Twenty-three patients (53 %) responded to our telephone survey after repeated attempts at contact. Median follow-up was 64 months (range 6­83 months). Of these patients, 19 (82.6 %) reported pre-operative headaches,compared to 12 (52.2 %) who reported post-operative headaches (OR = 1.75, p = 0.02). Average headache severity on a 1­10 scale decreased from 6.4 (SD = 2.0)pre-operatively to 3.4 (SD = 1.9) post-operatively (p = 0.006), while average maximum severity decreased from 8.6 (SD = 2.2) pre-operatively to 4.0 (SD = 3.3)post-operatively (p<0.001). The frequency of headaches also decreased, from 18.1 (SD = 12.6) per month pre-operatively to 3.7 (SD = 8.4) per month post-operatively(p<0.001). Overall, 14 patients (60.9 %) reported improvement in their headaches, and three patients(13.0 %) reported that their headaches had completely resolved. CONCLUSIONS: In a carefully selected patient population,transsphenoidal surgery for RCC can reduce headache monthly frequency, average typical severity, and average maximum severity with minimal risk of morbidity or mortality.


Assuntos
Cistos do Sistema Nervoso Central/cirurgia , Cefaleia/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adolescente , Adulto , Cistos do Sistema Nervoso Central/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/cirurgia , Adulto Jovem
9.
Rev Neurol (Paris) ; 171(5): 445-9, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25843205

RESUMO

Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. Its primary pathogenesis involves small vessel obliterative microangiopathy. Recently, autosomal recessively inherited mutations in CTC1 have been reported in CRMCC patients. We herein report an adolescent referred to our hospital following new seizures in a context of an undefined multisystem disorder. Cerebral imaging disclosed asymmetrical leukopathy, intracranial calcifications and cysts. In addition, he presented other typical CRMCC features i.e. a history of intrauterine growth retardation, skeletal demineralization and osteopenia, bilateral exudative vitreo-retinopathy reminiscent of Coats disease, recurrent gastrointestinal hemorrhages secondary to watermelon stomach and variceal bleeding of the esophagus due to idiopathic portal hypertension and telangiectatic and angiodysplasic changes in the small intestine and colon, and anemia due to recurrent bleeding and bone marrow abnormalities. The patient was diagnosed with Coats plus syndrome. CTC1 gene screening confirmed the diagnosis with the identification of heterozygous deleterious mutations. CRMCC due to CTC1 mutations has a broad clinical expressivity. Our case report illustrates the main possible associated phenotypes and their complications, demonstrating the need for a careful etiological search in order to initiate appropriate therapeutic and preventive measures.


Assuntos
Ataxia/genética , Neoplasias Encefálicas/genética , Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Leucoencefalopatias/genética , Espasticidade Muscular/genética , Doenças Retinianas/genética , Convulsões/genética , Proteínas de Ligação a Telômeros/genética , Adolescente , Ataxia/fisiopatologia , Neoplasias Encefálicas/fisiopatologia , Calcinose/fisiopatologia , Cistos do Sistema Nervoso Central/fisiopatologia , Retardo do Crescimento Fetal/genética , Hemorragia Gastrointestinal/etiologia , Genes Recessivos/genética , Humanos , Leucoencefalopatias/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Espasticidade Muscular/fisiopatologia , Mutação/genética , Doenças Retinianas/fisiopatologia , Convulsões/fisiopatologia
10.
Eur Neurol ; 71(5-6): 242-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24557332

RESUMO

The history and the behavioral profile of 2 patients with brain abnormalities in the region of the left amygdaloidal complex might suggest that the dysfunction of the neural pathways related to the left amygdala has to occur at an early developmental stage to result in impaired emotional judgments of facial expressions. This is in line with the hypothesis that emotional information processing is based on a distributed neural network which, during ontogenesis, gradually expands from the amygdala and the amygdaloidal complex to further components of the limbic system.


Assuntos
Tonsila do Cerebelo/anormalidades , Tonsila do Cerebelo/fisiopatologia , Emoções , Expressão Facial , Reconhecimento Visual de Modelos/fisiologia , Adulto , Idoso , Tonsila do Cerebelo/crescimento & desenvolvimento , Tonsila do Cerebelo/patologia , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/fisiopatologia , Neoplasias Encefálicas/cirurgia , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/fisiopatologia , Sinais (Psicologia) , Feminino , Hemangioma Cavernoso do Sistema Nervoso Central/patologia , Hemangioma Cavernoso do Sistema Nervoso Central/fisiopatologia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Humanos , Imagem por Ressonância Magnética , Masculino , Vias Neurais/crescimento & desenvolvimento , Vias Neurais/fisiopatologia , Testes Neuropsicológicos
11.
J Pediatr Endocrinol Metab ; 26(9-10): 949-53, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23729539

RESUMO

We report an 18-year-old Japanese male with a lack of secondary sex characterization and growth failure caused by a rare association between Rathke's cyst and hypophysitis. He was referred to us because of delayed secondary sex characterization. Endocrinological examination showed panhypopituitarism, and the replacement of hydrocortisone, levothyroxine, and desmopressin acetate (DDAVP) was initiated. Brain magnetic resonance imaging (MRI) showed a suprasellar region and a swollen pituitary stalk. The mass was partially resected using the transsphenoidal approach. The pathological diagnosis was hypophysitis and Rathke's cyst. Follow-up MRI performed 1 year after surgery showed that the size of sellar region had not changed. After surgery, in addition to pre-operative hormonal replacement, growth hormone and testosterone were initiated. Two years later, the size of sellar region remains unchanged. In conclusion, while an association between Rathke's cyst and hypophysitis is rare, we suggest that this condition should be included in differential diagnosis of the sellar region, even in adolescents.


Assuntos
Cistos do Sistema Nervoso Central/complicações , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Crescimento/etiologia , Hipopituitarismo/complicações , Hipófise/imunologia , Neoplasias Hipofisárias/complicações , Adolescente , Desenvolvimento do Adolescente/efeitos dos fármacos , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Transtornos do Desenvolvimento Sexual/prevenção & controle , Transtornos do Crescimento/prevenção & controle , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipopituitarismo/tratamento farmacológico , Hipopituitarismo/imunologia , Hipopituitarismo/fisiopatologia , Masculino , Tamanho do Órgão/efeitos dos fármacos , Hipófise/patologia , Hipófise/fisiopatologia , Hipófise/cirurgia , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/cirurgia , Testosterona/uso terapêutico , Resultado do Tratamento
12.
Endocr J ; 60(2): 207-13, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23171703

RESUMO

We reviewed 94 patients with Rathke's cleft cyst (RCC) who were surgically treated at Nippon Medical School Hospital between December 1995 and July 2009 to clarify the effect of surgery on their endocrine function. In our statistical analysis we considered their age and sex, the cyst volume, and preoperative MRI findings. Using simple linear- and multiple regression analysis we evaluated the association between these factors and their preoperative hormone baseline levels. To assess pre- and postoperative anterior pituitary function we subjected the results of various hormone loading tests to the Wilcoxon rank sum test. Surgery improved headache and visual impairment in most patients and elevated PRL levels were significantly normalized after surgery (p = 0.004). However, pre- and postoperative anterior pituitary hormone loading tests revealed that the levels of GH, TSH, LH, and FSH were not improved significantly by surgery. Although the ACTH loading test showed postoperative improvement, the change was not statistically significant. We suggest that RCC patients with headache or visual impairment are good candidates for surgery. We also recommend that patients with hyperprolactinemia and those with ACTH deficiency whose MRI findings reveal low-intensity on T1WI and high-intensity on T2WI are likely to benefit from surgery. In contrast, RCC patients with other hormone dysfunctions do not appear to benefit from surgical intervention.


Assuntos
Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Hipófise/fisiopatologia , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/cirurgia , Adulto , Cistos do Sistema Nervoso Central/sangue , Cistos do Sistema Nervoso Central/patologia , Feminino , Seguimentos , Cefaleia/etiologia , Cefaleia/prevenção & controle , Hospitais Universitários , Humanos , Hiperprolactinemia/etiologia , Hiperprolactinemia/prevenção & controle , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pigmentação , Testes de Função Hipofisária , Hipófise/metabolismo , Hipófise/patologia , Hipófise/cirurgia , Neoplasias Hipofisárias/sangue , Neoplasias Hipofisárias/patologia , Período Pós-Operatório , Período Pré-Operatório , Prolactina/sangue , Prolactina/metabolismo , Transtornos da Visão/etiologia , Transtornos da Visão/prevenção & controle
13.
Wien Klin Wochenschr ; 124(17-18): 605-10, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22869040

RESUMO

AIMS: The functional effect of the pineal gland cyst is difficult to evaluate with visual field examination. The aim of this study is to investigate the usefulness of visual evoked potentials (VEP) in patients with pineal gland cyst due to the possible compression on the visual pathway. SUBJECTS AND METHODS: Black-and-white pattern-reversal checkerboard VEP were recorded in 75 patients (50 females and 25 males, mean age 26.3 ± 15.7 and 25.6 ± 17.6 years, respectively) with pineal gland cyst detected on magnetic resonance of the brain (subject group) and 75 age and sex-matched control subjects (control group). Amplitudes and P100 latencies were collected and later grouped as: (1) normal finding; (2) prechiasmal; (3) prechiasmal and postchiasmal; and (4) postchiasmal dysfunction. RESULTS: P100 latencies differed significantly between subject (110.26 ± 13.23 ms) and control group (101.01 ± 5.36 ms) (p < 0.01). Findings of the VEP differed significantly (p < 0.01) between subject and control group, mainly due to the postchiasmal dysfunction frequency in subject group. Findings of the VEP differed significantly according to the pineal gland cyst volume (p = 0.006) with more frequent postchiasmal dysfunctions among subjects with larger cysts. Postchiasmal changes were significantly more frequent in patients with described compression of the cyst on surrounding brain structures (p = 0.016). CONCLUSIONS: Postchiasmal dysfunction on VEP can be seen in patients with pineal gland cyst, mostly with larger cysts and with compression of the cyst on surrounding brain structures. VEP serve as a useful method to determine functional impairment of the visual pathway in patients with pineal gland cyst.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/fisiopatologia , Eletroencefalografia/métodos , Potenciais Evocados Visuais , Pinealoma/diagnóstico , Pinealoma/fisiopatologia , Córtex Visual/fisiopatologia , Adulto , Cistos do Sistema Nervoso Central/complicações , Feminino , Humanos , Masculino , Pinealoma/complicações , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Transtornos da Visão/fisiopatologia
14.
Neurosurgery ; 70(2 Suppl Operative): 250-6; discussion 256-7, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22089758

RESUMO

BACKGROUND: Surgical indications for Rathke cleft cyst are not clear. OBJECTIVE: To evaluate postoperative outcomes in terms of endocrine function. METHODS: The study analyzed a total 73 patients who underwent transsphenoidal surgery. All patients underwent a visual field test, combined pituitary function test, and magnetic resonance imaging before and after surgery. A follow-up combined pituitary function test was performed at 1.5-year intervals. RESULTS: The mean age at the time of surgery was 35 ± 14 years, and the male/female ratio was 1:1.25 (33/40). The mean follow-up duration after surgery was 59 ± 39 months. The most common symptoms were headache (84%), visual disturbance (48%), and polyuria (38%). After transsphenoidal surgery, 75% of polyuria and 96% of visual field defects were resolved, and pituitary function improved in 42% of patients. The mean age of patients who exhibited worsened hypopituitarism was significantly higher than that of patients who exhibited unchanged or improved hypopituitarism (44 ± 15.7 vs 33 ± 13.5 years; P = .02). Twelve patients (16%) experienced recollection of cyst, but none required reoperation. Five of the recollected cysts presented with characteristics that were different from those of the initial lesions, and 2 recollected cysts underwent spontaneous regression. CONCLUSION: Minimal incision with radical removal of cyst content is reasonable to prevent the development of endocrine disturbances and other complications. Individualized risks and benefits must be assessed before a decision is reached regarding surgery and surgical method. Patients with recurrent Rathke cleft cyst require careful follow-up with special attention rather than a hasty operation.


Assuntos
Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Adolescente , Adulto , Idoso , Criança , Feminino , Seguimentos , Humanos , Hipopituitarismo/fisiopatologia , Hipopituitarismo/prevenção & controle , Hipopituitarismo/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
15.
Neurol Med Chir (Tokyo) ; 51(10): 684-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22027242

RESUMO

Epidermoids tend to grow around and adhere to critical neurovascular structures, but total or maximal tumor removal is recommended to reduce the risk of recurrence. We describe our method of combined microscopic and endoscopic resection for extensive epidermoid tumors. Thirteen patients with epidermoid tumors located in the suprasellar, prepontine, or surrounding cisterns underwent microsurgical resection with a rigid endoscope and a high definition camera system. An anterior petrosal and/or a pterional approach was selected in 6 patients and a lateral suboccipital approach in 7 patients. An endoscope was used with the operating microscope to remove 6 tumors through the anterior petrosal and/or pterional approaches in 5 cases and the lateral suboccipital approach in 1 case. An endoscope was used to confirm microscopic removal in 5 patients. Total removal was achieved in 5 patients and subtotal removal in 8 patients. We recommend the combined microsurgical and endoscopic approaches to achieve maximal resection of extensive suprasellar and prepontine epidermoids.


Assuntos
Craniotomia/métodos , Cisto Epidérmico/cirurgia , Microcirurgia/métodos , Neuroendoscopia/métodos , Neoplasias da Base do Crânio/cirurgia , Espaço Subaracnóideo/cirurgia , Adulto , Idoso , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Craniotomia/instrumentação , Cisto Epidérmico/patologia , Cisto Epidérmico/fisiopatologia , Feminino , Humanos , Masculino , Microcirurgia/instrumentação , Pessoa de Meia-Idade , Neuroendoscopia/instrumentação , Neoplasias da Base do Crânio/patologia , Neoplasias da Base do Crânio/fisiopatologia , Espaço Subaracnóideo/patologia
16.
Acta Neurochir (Wien) ; 153(12): 2427-33; discussion 2433, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21725869

RESUMO

BACKGROUND: Rathke's cleft cyst is known as an indolent disease, but has become intractable in a few cases. In this clinical investigation, the initial operative outcomes of Rathke's cleft cyst and the mechanism of re-accumulation were investigated to identify the optimum surgical strategy for the second operation. METHODS: We conducted a retrospective review of 155 patients with Rathke's cleft cyst (58 males and 97 females, aged from 13 to 84 years) surgically treated between April 1996 and March 2010. The same initial operative strategy was adopted in all patients. Operative outcomes and prognostic factors were investigated. FINDINGS: Re-accumulation occurred in 27 patients (17.4%), and re-operation was required in eight patients because of neurological deficits (5.2%). Three types of re-accumulating mechanism were identified. First, cysts with cerebrospinal fluid (CSF)-like intensity on magnetic resonance imaging had a higher risk of re-accumulation (logrank test, p < 0.001). The cyst wall should be extensively removed in the suprasellar cistern to allow communication between the cyst and CSF spaces at the second operation. Second, cysts with epithelial transition had a significant higher risk of re-accumulation compared to other types of epithelium (logrank test, p < 0.001). Aggressive removal and irradiation should be performed at the second treatment. Third, classic Rathke's cleft cyst was found in the majority of cases. No change in operative strategy is required at the second treatment with lower risk of intractability. CONCLUSIONS: Enlargement of Rathke's cleft cyst requiring re-treatment needs selection of surgical strategy according to the individual re-accumulation mechanism.


Assuntos
Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/cirurgia , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Procedimentos Neurocirúrgicos/métodos , Reoperação/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos do Sistema Nervoso Central/fisiopatologia , Líquido Cefalorraquidiano/fisiologia , Células Epiteliais/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/radioterapia , Procedimentos Neurocirúrgicos/normas , Prognóstico , Radioterapia/normas , Reoperação/normas , Estudos Retrospectivos , Terceiro Ventrículo/anormalidades , Terceiro Ventrículo/patologia , Terceiro Ventrículo/cirurgia , Adulto Jovem
17.
Prenat Diagn ; 31(8): 745-9, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21484842

RESUMO

OBJECTIVE: To examine the effect of isolated prenatal choroid plexus cysts (CPCs) on child cognitive, behavioral, motor, and autonomic development at 18 months of age. METHODS: A prospective design was implemented to identify CPC cases and controls in mid-pregnancy. Cases (n = 25) and controls (n = 45) participated in a follow-up visit when children were 18 months of age. Child mental and motor development was assessed using standard developmental assessments, socioemotional and behavioral functioning during testing was rated by examiners, and accelerometers provided measures of motor activity and energy expenditure. Cardiac patterns were collected using a three-lead electrocardiogram (ECG) and quantified as indicators of autonomic control of the heart, including vagal tone. RESULTS: No significant differences were found in any outcome measure between children with prenatal CPC detection and those without. CONCLUSION: Findings should provide reassurance to practitioners and parents that isolated CPCs in fetuses with normal karyotypes do not affect child development after birth.


Assuntos
Encefalopatias/congênito , Encefalopatias/diagnóstico , Cistos do Sistema Nervoso Central/diagnóstico , Desenvolvimento Infantil , Plexo Corióideo/fisiopatologia , Adulto , Atenção , Sistema Nervoso Autônomo/fisiopatologia , Encefalopatias/fisiopatologia , Encefalopatias/psicologia , Estudos de Casos e Controles , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/psicologia , Metabolismo Energético , Feminino , Humanos , Lactente , Masculino , Atividade Motora , Gravidez , Estudos Prospectivos , Desempenho Psicomotor , Ultrassonografia Pré-Natal
19.
J Perinatol ; 31(2): 98-103, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20616785

RESUMO

OBJECTIVE: To document the incidence, natural history and compare neurodevelopmental outcome of newborns with and without frontal horn cysts (FHC). STUDY DESIGN: This was a case-control study. Newborns with and without FHC were identified and matched for demographics and worst cranial ultrasound scan (CUS) findings. Neurodevelopmental outcome was assessed at 18 to 24 months. RESULT: A total of 30 FHC cases were identified from medical imaging database. Twenty-five cases occurred in preterm 32 weeks gestation with an incidence of 1% (25 of 2340). The diagnosis was made on the initial CUS in 28 cases. The cyst size and number varied from 1 to 18 mm and 1 to 6 respectively with no change noted on repeat CUS during hospital stay. Neurodevelopmental outcomes were not statistically significantly different between the groups. CONCLUSION: FHC are not uncommon in the newborn period. They appear to be benign with no impact on neurodevelopmental outcome. This information is vital for counseling parents of infants with FHC.


Assuntos
Cistos do Sistema Nervoso Central , Ecoencefalografia , Ventrículos Laterais , Canadá , Estudos de Casos e Controles , Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/fisiopatologia , Desenvolvimento Infantil , Diagnóstico Diferencial , Seguimentos , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Ventrículos Laterais/anormalidades , Ventrículos Laterais/diagnóstico por imagem , Ventrículos Laterais/crescimento & desenvolvimento , Triagem Neonatal
20.
Neuropathology ; 31(1): 66-70, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20497342

RESUMO

Both chordoma and Rathke's cleft cyst are relatively rare diseases in the central nervous system. In this paper we report the first case of a chordoma coexisting with a Rathke's cleft cyst. A 49-year-old man presented with a 19-month history of distending pain, movement dysfunction and diplopia of the left eye. The preoperative diagnosis was consistent with chordoma with cystic change. Final pathological diagnosis of chordoma coexisting with Rathke's cleft cyst was made according to histological and immunohistochemical studies and the clinical and radiological features are discussed. Considering the close relationship between the notochordal tissue and Rathke's pouch during early embryogenic development, a possible mechanism is also discussed with the literature review.


Assuntos
Neoplasias Encefálicas/patologia , Cistos do Sistema Nervoso Central/patologia , Cordoma/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Encefálicas/fisiopatologia , Cistos do Sistema Nervoso Central/fisiopatologia , Cordoma/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/fisiopatologia
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