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1.
J Clin Neurosci ; 89: 336-342, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34119290

RESUMO

Paraneoplastic neurological syndromes (PNS) are rare immune-mediated disorders, and the detection of onconeural antibodies is helpful for PNS diagnosis. The aim of this study was to investigate the clinical characteristics of patients with PNS with positive onconeural antibodies in a single center in Hubei, China. We retrospectively analyzed the clinical characteristics of 54 patients with positive onconeural antibodies from January 2016 to September 2020. Among 780 patients with suspected PNS, 54 (6.9%) had positive onconeural antibodies. Of those 54 patients, 28 (51.8%) were diagnosed with definite PNS and 13 (24.1%) with possible PNS. Eighteen (33.3%) patients were confirmed with cancer. Ten PNS syndromes were detected among the 28 patients with definite PNS, and they had either classical (12/28, 42.8%) or non-classical syndromes (17/28, 60.7%). Peripheral neuropathy (9/28, 32.1%), subacute cerebellar degeneration (4/28, 14.3%), and limbic encephalitis (4/28, 14.3%) were the most common PNS syndromes. The anti-CV2/CRMP5-antibody was observed most frequently. Lung cancer was the most common tumor type. For patients with possible PNS, peripheral neuropathy was the most common PNS syndrome, and the anti-Tr-antibody was the most frequent onconeural antibody. Immunotherapy was effective in treating PNS. The anti-CV2/CRMP5-antibody was the most subsequently observed antibody. The manifestations of PNS are diverse and include peripheral neuropathy, subacute cerebellar degeneration, and limbic encephalitis. In patients with PNS, lung cancer was the most common tumor.


Assuntos
Anticorpos/imunologia , Doenças Cerebelares/epidemiologia , Encefalite Límbica/epidemiologia , Neoplasias Pulmonares/epidemiologia , Degeneração Neural/epidemiologia , Síndromes Paraneoplásicas do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso Periférico/epidemiologia , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Síndromes Paraneoplásicas do Sistema Nervoso/imunologia
2.
World Neurosurg ; 153: 63-74, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34157457

RESUMO

Cerebellar mutism syndrome (CMS) is one the most disabling postoperative neurological complications after posterior fossa surgery in children. CMS is characterized by a transient mutism with a typical onset demonstrated within 2 days postoperatively accompanied by associated ataxia, hypotonia, and irritability. Several hypotheses for the anatomical basis of pathophysiology and risk factors have been suggested. However, a definitive theory and treatment protocols have not yet been determined. Animal histological and electrophysiological studies and more recent human imaging studies have demonstrated the existence of a compartmentalized representation of cerebellar function, the understanding of which might provide more information on the pathophysiology. Damage to the dentatothalamocortical pathway and cerebrocerebellar diaschisis have been described as the anatomical substrate to the CMS. The risk factors, which include tumor type, brainstem invasion, tumor localization, tumor size, and vermal splitting technique, have not yet been clearly elucidated. The efficacy of potential pharmacological and speech therapies has been studied in small trials. Long-term motor speech deficits and associated cognitive and behavioral disturbances have now been found to be common among CMS survivors, affecting their development and requiring rehabilitation, leading to significant financial effects on the healthcare system and distress to the family. The aim of the present review was to outline the cerebellar anatomy and function and its connections in relationship to the pathophysiology and to refine the risk factors and treatment strategies for CMS.


Assuntos
Doenças Cerebelares/fisiopatologia , Mutismo/etiologia , Mutismo/fisiopatologia , Procedimentos Neurocirúrgicos/efeitos adversos , Complicações Pós-Operatórias/fisiopatologia , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/etiologia , Criança , Feminino , Humanos , Neoplasias Infratentoriais/cirurgia , Masculino , Mutismo/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Fatores de Risco , Resultado do Tratamento
3.
Am J Case Rep ; 21: e926034, 2020 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-32813683

RESUMO

BACKGROUND Tuberculosis (TB) is a great mimic of central nervous system (CNS) tumors. This mimicry may pose a challenge, as the management of both diseases is quite different. Furthermore, the temporal association of initiating treatment affects prognosis. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mainly infects the pulmonary system. However, in a patient with concomitant pulmonary tuberculosis, it can be a diagnostic challenge. CASE REPORT A 28-year-old man of Indian origin presented with headache and vomiting. He had a brain mass on imaging suggestive of a glioma. He also had lung infiltrates and was diagnosed with a co-infection by SARS-CoV-2, by a reverse-transcription polymerase chain reaction (RT-PCR) using the GeneXpert system. The mass was excised and was found to be a tuberculoma, diagnosed by Xpert MTB. He received first-line anti-TB and treatment for COVID-19 pneumonia based on local guidelines. CONCLUSIONS This report highlights that COVID-19 can co-exist with other infectious diseases, such as TB. A high degree of clinical suspicion is required to detect TB with atypical presentation. A co-infection of pulmonary and CNS TB with COVID-19 can present a diagnostic challenge, and appropriate patient management relies on an accurate and rapid diagnosis. Surgery may be necessary if there are compressive signs and symptoms secondary to CNS TB. A diagnosis of COVID-19 should not delay urgent surgeries. Further studies are needed to understand the effects of COVID-19 on the clinical course of TB.


Assuntos
Betacoronavirus , Doenças Cerebelares/epidemiologia , Cerebelo/diagnóstico por imagem , Coinfecção/epidemiologia , Infecções por Coronavirus/epidemiologia , Pulmão/diagnóstico por imagem , Pneumonia Viral/epidemiologia , Tuberculose Pulmonar/epidemiologia , Adulto , COVID-19 , Doenças Cerebelares/diagnóstico , Coinfecção/diagnóstico , Comorbidade , Infecções por Coronavirus/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Pandemias , Pneumonia Viral/diagnóstico , Radiografia Torácica , SARS-CoV-2 , Tuberculose Pulmonar/diagnóstico
4.
Childs Nerv Syst ; 36(6): 1171-1179, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31273496

RESUMO

PURPOSE: Cerebellar mutism syndrome (CMS) is a serious source of morbidity following posterior fossa surgery in the pediatric population. However, methods for effectively decreasing its incidence and impact remain unclear. It is our aim to examine the impact of adjusting surgical factors, namely the use of a telovelar approach and avoidance of cavitronic ultrasonic aspirator, on the incidence of CMS in our population as well as outlining potential pre-, intra-, and postoperative factors that may contribute to its development. METHODS: Retrospective review was performed to identify patients undergoing posterior fossa surgery for resection of a medulloblastoma. Demographic, surgical, and postoperative data were collected. These data were analyzed for possible correlations to the risk of developing CMS via univariate analysis. For factors found to be significant, a multivariate analysis was performed to assess their independence. RESULTS: Seven of 65 patients (10.8%) developed CMS postoperatively. Factors found to be significantly associated with a higher risk of CMS were the degree of retraction utilized during the procedure (p = 0.0000) and incision of the vermis (p = 0.0294). Although they did not reach the threshold of statistical significance, tumor vascularity (p = 0.19), adoption of a transvermian approach (p = 0.19), and lack of intraoperative imaging (p = 0.17) exhibited strongly suggestive trends towards a correlation with CMS. DISCUSSION: In an effort to reduce the incidence and severity of CMS in our population, our institution adopted surgical practices that minimize tissue trauma and mitigate postoperative edema. This included the use of a telovelar over a transvermian approach to obviate the need for vermian incision, avoidance of the CUSA, and minimization of heavy retraction during surgery. This was successful in reducing the incidence of CMS from 39% in our medulloblastoma patients to 10.8%. The development of CMS after posterior fossa surgery appears to be a "two-hit" phenomenon requiring a combination of existing predisposition, surgical injury, and postoperative exacerbation. Therefore, it is critical to identify the factors involved at each stage and investigate treatments to target them appropriately.


Assuntos
Doenças Cerebelares , Neoplasias Cerebelares , Meduloblastoma , Mutismo , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/etiologia , Neoplasias Cerebelares/cirurgia , Criança , Humanos , Meduloblastoma/cirurgia , Mutismo/epidemiologia , Mutismo/etiologia , Mutismo/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Estudos Retrospectivos
5.
Ultrasound Obstet Gynecol ; 53(3): 390-395, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29484745

RESUMO

OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar space, particularly 'open fourth ventricle' (4V), the most common indicator of MB-HB malformations. The aim of this study was to present the fourth ventricle index (4VI), and to evaluate its role as a marker for severe vermian dysgenesis/agenesis in cases without open 4V. METHODS: This was a prospective cross-sectional study of patients with singleton low-risk pregnancy at 14 + 1 to 36 + 6 gestational weeks presenting between May 2016 and November 2017 for routine ultrasound examination. Axial images of the fetal 4V were obtained and the 4VI was calculated as the ratio between the laterolateral and the anteroposterior diameters. Reference ranges were constructed and retrospectively collected values from 44 fetuses with confirmed anomalies involving severe vermian dysgenesis/agenesis (Joubert syndrome and related disorders, rhombencephalosynapsis, cobblestone malformations and cerebellar hypoplasia) but without open 4V were compared with the normal values. RESULTS: In total, 384 healthy fetuses were enrolled into the study, from which reference ranges were produced, and 44 cases were collected retrospectively. The 4VI in the normal fetuses was always > 1. In affected fetuses, it was always below mean -2 SD and < 1. CONCLUSIONS: The 4VI is a sonographic marker for severe fetal vermian dysgenesis/agenesis in the absence of an open 4V. It may be incorporated easily into the routine brain scan; 4VI < 1 indicates a need for dedicated fetal neuroimaging for diagnosis and prenatal counseling. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Quarto Ventrículo/diagnóstico por imagem , Mesencéfalo/diagnóstico por imagem , Diagnóstico Pré-Natal/normas , Rombencéfalo/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/patologia , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Estudos Transversais , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/patologia , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/patologia , Feminino , Feto , Quarto Ventrículo/anatomia & histologia , Quarto Ventrículo/patologia , Idade Gestacional , Humanos , Lactente , Doenças Renais Císticas/diagnóstico por imagem , Doenças Renais Císticas/patologia , Mesencéfalo/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/epidemiologia , Malformações do Sistema Nervoso/patologia , Gravidez , Estudos Prospectivos , Retina/anormalidades , Retina/diagnóstico por imagem , Retina/patologia , Estudos Retrospectivos , Rombencéfalo/anormalidades , Ultrassonografia Pré-Natal/métodos
6.
Br J Neurosurg ; 32(1): 18-27, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29433337

RESUMO

BACKGROUND: Despite previous identification of pre-operative clinical and radiological predictors of post-operative paediatric cerebellar mutism syndrome (CMS), a unifying pre-operative risk stratification model for use during surgical consent is currently lacking. The aim of the project is to develop a simple imaging-based pre-operative risk scoring scheme to stratify patients in terms of post-operative CMS risk. METHODS: Pre-operative radiological features were recorded for a retrospectively assembled cohort of 89 posterior fossa tumour patients from two major UK treatment centers (age 2-23yrs; gender 28 M, 61 F; diagnosis: 38 pilocytic astrocytoma, 32 medulloblastoma, 12 ependymoma, 1 high grade glioma, 1 pilomyxoid astrocytoma, 1 atypical teratoid rhabdoid tumour, 1 hemangioma, 1 neurilemmoma, 2 oligodendroglioma). Twenty-six (29%) developed post-operative CMS. Based upon results from univariate analysis and C4.5 decision tree, stepwise logistic regression was used to develop the optimal model and generate risk scores. RESULTS: Univariate analysis identified five significant risk factors and C4.5 decision tree analysis identified six predictors. Variables included in the final model are MRI primary location, bilateral middle cerebellar peduncle involvement (invasion and/or compression), dentate nucleus invasion and age at imaging >12.4 years. This model has an accuracy of 88.8% (79/89). Using risk score cut-off of 203 and 238, respectively, allowed discrimination into low (38/89, predicted CMS probability <3%), intermediate (17/89, predicted CMS probability 3-52%) and high-risk (34/89, predicted CMS probability ≥52%). CONCLUSIONS: A risk stratification model for post-operative paediatric CMS could flag patients at increased or reduced risk pre-operatively which may influence strategies for surgical treatment of cerebellar tumours. Following future testing and prospective validation, this risk scoring scheme will be proposed for use during the surgical consenting process.


Assuntos
Doenças Cerebelares/diagnóstico , Mutismo/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Período Pré-Operatório , Adolescente , Algoritmos , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/cirurgia , Cerebelo/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Mutismo/diagnóstico por imagem , Mutismo/epidemiologia , Variações Dependentes do Observador , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/epidemiologia , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Reino Unido/epidemiologia , Adulto Jovem
7.
J Child Neurol ; 31(9): 1156-60, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27071467

RESUMO

We categorized the causes of acute ataxia in the pediatric population-referred to the Division of Neurology-at a large, urban pediatric medical center. Of the 120 cases identified over the past 11 years, post-infectious cerebellar ataxia was the most commonly diagnosed (59%), followed by drug intoxication, opsoclonus-myoclonus ataxia syndrome, episodic ataxia, acute cerebellitis, cerebellar stroke, ADEM, meningitis, cerebral vein thrombosis, Leigh's disease, Miller-Fisher syndrome, and concussion. Among the patients with post-infectious cerebellar ataxia, 85% were 1-6 years old and all had a history of antecedent viral illness. CSF pleocytosis was present in 40% of patients; all had normal brain MRIs. The majority (91%) recovered within 30 days. We conclude that post-infectious cerebellar ataxia remains the most common cause of acute ataxia in childhood and that it carries a good prognosis. We also differentiate acute post-infectious cerebellar ataxia from other causes with similar presentations.


Assuntos
Ataxia/epidemiologia , Ataxia/etiologia , Doença Aguda , Ataxia/diagnóstico por imagem , Ataxia/terapia , Encéfalo/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/etiologia , Doenças Cerebelares/terapia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Infecções/complicações , Infecções/epidemiologia , Infecções/terapia , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos
8.
J Neurol ; 262(1): 65-73, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25297924

RESUMO

Granule cell neuronopathy (GCN) is a rare JC virus (JCV)-related disease in immunocompromised patients, characterized by lytic infection of the cerebellar granule cell layer. To enable early diagnosis and intervention, we identify features of GCN and describe possible aspects of disease heterogeneity. We report on two new cases of GCN in HIV-infected patients of whom we retrospectively assessed clinical and radiologic data. In addition, we carried out a literature search and review of clinical, radiologic and histopathologic findings of all published GCN cases. Including the two new cases reported here, a total of 18 GCN cases were included in this study. HIV infection, present in 12 of the cases, was the most common underlying condition, followed by monoclonal antibody treatment which was present in three cases. Cerebellar atrophy was detected in all except two cases. In 12 patients a heterogeneous distribution pattern of white matter changes in the cerebellum and brainstem was observed. Imaging findings in GCN are remarkably heterogeneous; exhibiting cerebellar atrophy, as well as white matter pathology, particularly in the adjacent infratentorial white matter. This suggests an overlap of GCN with other JCV-related diseases, such as progressive multifocal leukoencephalopathy.


Assuntos
Doenças Cerebelares/patologia , Cerebelo/citologia , Infecções por HIV , Vírus JC/patogenicidade , Leucoencefalopatia Multifocal Progressiva/patologia , Substância Branca/patologia , Doenças Cerebelares/epidemiologia , Comorbidade , Infecções por HIV/epidemiologia , Humanos , Leucoencefalopatia Multifocal Progressiva/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
9.
Brain Dev ; 36(5): 388-93, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23845172

RESUMO

AIM: We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. METHODS: As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. RESULTS: The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. CONCLUSION: It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/epidemiologia , Coloboma/diagnóstico , Coloboma/epidemiologia , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/epidemiologia , Anormalidades Múltiplas , Adolescente , Adulto , Cerebelo/anormalidades , Criança , Pré-Escolar , Diagnóstico Diferencial , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/epidemiologia , Feminino , Humanos , Japão/epidemiologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/epidemiologia , Masculino , Retina/anormalidades , Adulto Jovem
10.
J Craniofac Surg ; 24(4): 1153-5, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23851760

RESUMO

We aimed to examine the prevalence of cerebellar tonsil ectopia and Chiari 1 malformation in sensorineural hearing loss (SHL) that has, to the best of our knowledge, not been studied previously. Magnetic resonance imaging records of 166 subjects with SHL and 50 controls without known otologic disturbances were included in the study. A tonsils descent more than 2 mm was assumed as cerebellar ectopia, and a descent equal to or more than 5 mm was assumed as Chiari 1 malformation. A tonsil descent group was also formed by summation of both groups. Transverse diameters of bilateral intracranial vertebral arteries and transverse sinuses were also measured, and all parameters were analyzed using appropriate statistics. A significant difference of frequencies of Chiari 1, ectopia, and tonsil descent was detected between patients and controls. In comparison of cerebellar ectopia and Chiari 1 groups, SHL did not show any significant difference. The left lateral sinus diameter showed positive correlation with tonsil descent. There was no significant correlation for the diameters of other vessels. A powerful correlation was detected between SHL and age. In addition, right and vertebral artery diameters showed positive correlations with age. Chiari 1 malformation and cerebellar ectopia showed an association with SHL. These patients should also be evaluated for otologic disturbances. Further high-resolution magnetic resonance imaging studies to explain the exact cause of this currently unknown association seems required.


Assuntos
Malformação de Arnold-Chiari/complicações , Doenças Cerebelares/complicações , Perda Auditiva Neurossensorial/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Malformação de Arnold-Chiari/epidemiologia , Malformação de Arnold-Chiari/patologia , Estudos de Casos e Controles , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/patologia , Criança , Feminino , Perda Auditiva Neurossensorial/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
11.
Lancet Neurol ; 12(9): 894-905, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23870701

RESUMO

Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. Neurological signs are present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 21 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus. The primary cilium is a subcellular organelle that has key roles in development and in many cellular functions, making Joubert syndrome part of the expanding family of ciliopathies. Notable clinical and genetic overlap exists between distinct ciliopathies, which can co-occur even within families. Such variability is probably explained by an oligogenic model of inheritance, in which the interplay of mutations, rare variants, and polymorphisms at distinct loci modulate the expressivity of the ciliary phenotype.


Assuntos
Doenças Cerebelares/congênito , Doenças Renais Císticas/congênito , Anormalidades Múltiplas , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/genética , Cerebelo/anormalidades , Anormalidades do Olho/epidemiologia , Anormalidades do Olho/genética , Humanos , Doenças Renais Císticas/epidemiologia , Doenças Renais Císticas/genética , Retina/anormalidades
13.
Pituitary ; 16(1): 122-30, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22485017

RESUMO

Herniation of cerebellar tonsils (CTH) might occur in acromegaly patients and improve after acromegaly treatment. Our study investigated CTH prevalence in acromegaly, its relationship with clinical, laboratory and neuroimaging findings and its possible pathogenesis and clinical impact. 150 acromegaly patients (median-age 56 years, age-range 21-88, 83 females) underwent brain magnetic resonance imaging (MRI). Clinical data, laboratory and pituitary adenoma imaging findings were recorded. CTH, posterior cranial fossa area, tentorial angle, clivus, supraocciput and Twining's line length were measured in acromegaly patients and controls, who included MRI of 115 consecutive subjects with headache or transient neurological deficits (control group-1) and 24 symptomatic classic Chiari 1 malformation patients (control group-2). Acromegaly patients were interviewed for symptoms known to be related with CTH. 22/150 acromegaly patients (15 %) and 8/115 control group-1 subjects presented with CTH (p = 0.04). In acromegaly patients, CTH correlated positively with younger age and inversely with GH-receptor antagonist treatment. Control group-2 had a shorter clivus than CTH acromegaly patients (40.4 ± 3.2 mm vs 42.5 ± 3.3 mm, p < 0.05), while posterior fossa measures did not differ among acromegaly subgroups (with and without CTH) and control group-1. Headache and vision problems were more frequent in CTH acromegaly patients (p < 0.05); two acromegaly patients presented with imaging and neurological signs of syringomyelia. Despite no signs of posterior fossa underdevelopment or cranial constriction, CTH is more frequent in acromegaly patients and seems to contribute to some disabling neurological symptoms.


Assuntos
Acromegalia/complicações , Doenças Cerebelares/diagnóstico , Cerebelo/anormalidades , Cerebelo/patologia , Acromegalia/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Malformação de Arnold-Chiari , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/etiologia , Feminino , Cefaleia/diagnóstico , Cefaleia/patologia , Hérnia/diagnóstico , Hérnia/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prevalência
14.
J Med Genet ; 49(2): 126-37, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22241855

RESUMO

BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly are variably present, resulting in significant phenotypic heterogeneity and overlap with other ciliopathies. JS is also genetically heterogeneous, resulting from mutations in 13 genes. These factors render clinical/molecular diagnosis and management challenging. CC2D2A mutations are a relatively common cause of JS and also cause Meckel syndrome. The clinical consequences of CC2D2A mutations in patients with JS have been incompletely reported. METHODS: Subjects with JS from 209 families were evaluated to identify mutations in CC2D2A. Clinical and imaging features in subjects with CC2D2A mutations were compared with those in subjects without CC2D2A mutations and reports in the literature. RESULTS: 10 novel CC2D2A mutations in 20 subjects were identified; a summary is provided of all published CC2D2A mutations. Subjects with CC2D2A-related JS were more likely to have ventriculomegaly (p<0.0001) and seizures (p=0.024) than subjects without CC2D2A mutations. No mutation-specific genotype-phenotype correlations could be identified, but the findings confirm the observation that mutations that cause CC2D2A-related JS are predicted to be less deleterious than mutations that cause CC2D2A-related Meckel syndrome. Missense variants in the coiled-coil and C2 domains, as well as the C-terminal region, identify these regions as important for the biological mechanisms underlying JS. CONCLUSIONS: CC2D2A testing should be prioritised in patients with JS and ventriculomegaly and/or seizures. Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures.


Assuntos
Doenças Cerebelares/genética , Anormalidades do Olho/genética , Estudos de Associação Genética , Hidrocefalia/genética , Doenças Renais Císticas/genética , Proteínas/genética , Convulsões/genética , Anormalidades Múltiplas , Adolescente , Adulto , Alelos , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/epidemiologia , Cerebelo/anormalidades , Criança , Pré-Escolar , Proteínas do Citoesqueleto , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/epidemiologia , Genótipo , Humanos , Hidrocefalia/diagnóstico , Lactente , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/epidemiologia , Imageamento por Ressonância Magnética , Neuroimagem , Fenótipo , Prevalência , Retina/anormalidades , Adulto Jovem
16.
J Child Neurol ; 24(12): 1486-92, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19240044

RESUMO

An enlarged cisterna magna can be identified during routine ultrasound screening in the second half of pregnancy. It is important to be able to give an accurate prognosis. We evaluated the developmental outcome of these children. A total of 29 fetuses with a large cisterna magna identified in utero were compared to 35 children with a normal fetal ultrasound. The children were evaluated by the Gesell Developmental Schedules and the Peabody Developmental Motor Scale. The study group showed a significantly worse performance in the Gesell test. However, the overall performance for both groups was within normal limits. Four children in the study group had a borderline developmental quotient. Both groups performed similarly in the Peabody test. Walking age was significantly delayed in the study group. Children with an enlarged cisterna magna may be at risk for mild developmental delay. In cases of nonisolated enlargement of the cisterna magna, the outcome may be guarded.


Assuntos
Cisterna Magna/anormalidades , Fossa Craniana Posterior/anormalidades , Deficiências do Desenvolvimento/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Espaço Subaracnóideo/anormalidades , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/epidemiologia , Cistos Aracnóideos/fisiopatologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/fisiopatologia , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Pré-Escolar , Cisterna Magna/diagnóstico por imagem , Cisterna Magna/fisiopatologia , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/fisiopatologia , Comorbidade , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/fisiopatologia , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/epidemiologia , Síndrome de Dandy-Walker/fisiopatologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/fisiopatologia , Avaliação da Deficiência , Feminino , Feto , Humanos , Lactente , Masculino , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/fisiopatologia , Testes Neuropsicológicos , Valor Preditivo dos Testes , Gravidez , Prognóstico , Espaço Subaracnóideo/diagnóstico por imagem , Espaço Subaracnóideo/fisiopatologia , Ultrassonografia Pré-Natal/métodos
17.
Otolaryngol Pol ; 62(1): 49-53, 2008.
Artigo em Polonês | MEDLINE | ID: mdl-18637421

RESUMO

INTRODUCTION: Otogenic intracranial complications are rare. Misdiagnosed and untreated can be dangerous for health and life. They should be always kept in mind. AIM: We discuss patients in whom defects of skull base were observed during operation. These defects can lead to serious intracranial complications. MATERIAL AND METHODS: We analyse patients with chronic otitis media operated in our department between 2004-2006. 250 operations on ears were performed in that period of time. We discuss patients with intracranial otogenic complications and patients in whom defects of skull base were noticed by chance during operations. RESULTS: Defects of skull base were observed in 24 cases. Intracranial complications were in 3 patients. 1 patiens died because of abscess of cerebellum, others were treated with good distant effect. Used methods of reconstruction were effective, we observed no discharge of cerebro-spinal fluid and no other intracranial complications. CONCLUSIONS: It exists group of patients with chronic otitis media that have asymptomastic defects of cranial fossa. These defects can be responsible for intracranial complications. MRI and TC are very important in preoperative diagnostics.


Assuntos
Doenças Ósseas Infecciosas/epidemiologia , Encefalopatias/epidemiologia , Otite Média/epidemiologia , Base do Crânio , Abscesso/epidemiologia , Abscesso/cirurgia , Adulto , Idoso , Causalidade , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/cirurgia , Doença Crônica , Comorbidade , Empiema Subdural/epidemiologia , Empiema Subdural/cirurgia , Feminino , Humanos , Hidrocefalia/epidemiologia , Hidrocefalia/cirurgia , Masculino , Meningite/epidemiologia , Meningite/cirurgia , Pessoa de Meia-Idade , Estudos Prospectivos , Procedimentos de Cirurgia Plástica , Trombose dos Seios Intracranianos/epidemiologia , Trombose dos Seios Intracranianos/cirurgia , Base do Crânio/cirurgia
18.
J Neuropsychiatry Clin Neurosci ; 19(2): 187-90, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17431066

RESUMO

The authors describe clinical, neuropsychological, and neuroimaging findings in a 70-year-old man with a cystic lesion in the midline cerebellum. He presented with pathological crying in parallel to a worsening of his ataxia. This report suggests a role for the cerebellum in the regulation of emotional expression.


Assuntos
Doenças Cerebelares/epidemiologia , Doenças Cerebelares/psicologia , Choro/psicologia , Cistos/epidemiologia , Cistos/psicologia , Emoções Manifestas , Tremor/epidemiologia , Tremor/psicologia , Idoso , Ataxia/epidemiologia , Doenças Cerebelares/patologia , Cistos/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de Doença
19.
Przegl Lek ; 63(11): 1173-6, 2006.
Artigo em Polonês | MEDLINE | ID: mdl-17348411

RESUMO

BACKGROUND: Otogenic intracranial complications are rare diseases. If misdiagnosed and untreated they can lead to serious condition of patient and life-threatening. This group of complications ought to be kept in mind in patients with chronic otitis media. AIM OF THE STUDY: We discuss types of otogenic complications and performed treatment. MATERIAL AND METHODS: Retrospective analysis of patients treated in our department between 1998-2006 was made. About 700 ear operations were performed in that period of time. RESULTS: Intracranial otogenic complications were noticed in 9 cases. Despite performed treatment one patient with cerebellum abscess died. The rest patients were operated with good result. CONCLUSIONS: Precise otolaryngological examination with additional investigations like CT and MRI are very important to establish the final diagnosis and save patient's health or life.


Assuntos
Abscesso Encefálico/epidemiologia , Doenças Cerebelares/epidemiologia , Colesteatoma da Orelha Média/epidemiologia , Otite Média/epidemiologia , Otite Média/cirurgia , Adolescente , Adulto , Idoso , Infecções Bacterianas/diagnóstico , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/terapia , Abscesso Encefálico/diagnóstico , Abscesso Encefálico/cirurgia , Causalidade , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/terapia , Criança , Colesteatoma da Orelha Média/diagnóstico , Colesteatoma da Orelha Média/cirurgia , Doença Crônica , Comorbidade , Diagnóstico Diferencial , Feminino , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Estudos Retrospectivos , Resultado do Tratamento
20.
Spine (Phila Pa 1976) ; 28(1): 40-5, 2003 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-12544954

RESUMO

STUDY DESIGN: Familial cases of "idiopathic" scoliosis associated with neurologic abnormalities are reported with a review of the literature. OBJECTIVE: To investigate the prevalence of neurologic abnormalities such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia in patients with genetically determined "idiopathic" scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is widely considered to be a genetic disorder of unknown etiology. Magnetic resonance imaging (MRI) studies have shown that several cases of "idiopathic" scoliosis show neurologic abnormalities including syringomyelia and Chiari 1 malformation. Recently, several familial cases of either syringomyelia or Chiari malformation were reported, and it is suspected that genetic factors may influence the development of the craniovertebral malformation. It was hypothesized that some cases of "idiopathic" scoliosis include a craniovertebral malformation that is genetically determined. METHODS: This study, using clinical examinations and MRI, investigated 71 patients with scoliosis and a family history of "idiopathic" scoliosis in third-degree relatives for the presence of neurologic abnormalities. If neurologic abnormalities were confirmed with MRI, the relatives affected with scoliosis were also examined. RESULTS: Nine (13%) patients showed neurologic abnormalities on MRI. Magnetic resonance imaging showed syringomyelia with Chiari 1 malformation in four patients, Chiari 1 malformation in three patients, and tonsillar ectopia in two patients. Among the relatives of these patients, 4 of 15 individuals affected with scoliosis also showed neurologic abnormalities on MRI. CONCLUSIONS: It is suggested that familial neurologic abnormalities may have a wide range of expression, and that some patients with "idiopathic" scoliosis present with genetically determined craniovertebral malformations such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia.


Assuntos
Predisposição Genética para Doença , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Escoliose/diagnóstico , Escoliose/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adolescente , Adulto , Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/epidemiologia , Malformação de Arnold-Chiari/genética , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/genética , Criança , Coristoma/diagnóstico , Coristoma/epidemiologia , Coristoma/genética , Comorbidade , Família , Feminino , Cefaleia/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Cervicalgia/etiologia , Malformações do Sistema Nervoso/epidemiologia , Exame Neurológico , Linhagem , Escoliose/epidemiologia , Siringomielia/diagnóstico , Siringomielia/epidemiologia , Siringomielia/genética
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