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1.
Endokrynol Pol ; 72(5): 505-511, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34855191

RESUMO

INTRODUCTION: Rathke cleft cysts (RCC) arise as developmental abnormalities of the pituitary gland and are usually diagnosed incidentally. However, they may present with headaches, visual impairment, or pituitary dysfunction. Rathke cleft cysts are poorly described in the Polish literature. We aimed to characterize presenting symptoms, associated endocrine dysfunction, and concomitant disorders in the Polish population of patients with RCC. MATERIAL AND METHODS: We performed a retrospective analysis of medical records of 102 patients diagnosed with RCC between 2006 and 2021 at Heliodor Swiecicki Clinical Hospital in Poznan and Independent Public Clinical Hospital No. 4 in Lublin. RESULTS: The cohort was 72% female, with a mean age of 43 years. The median maximal cyst diameter was 7 mm. The majority of subjects were overweight or obese and presented lipid profile or glucose disturbances. Common presenting symptoms included headache, vertigo, and visual impairment. Less frequently we observed sexual dysfunction, irregular menses, galactorrhoea, or fatigue. Hormonal abnormalities were identified in 30% of patients, with hyperprolactinaemia being the commonest endocrinopathy (23%). Pituitary function in patients with RCC did not correlate with cyst size. Both concomitant pituitary adenomas and pineal cysts were diagnosed in 3% of patients. A considerable proportion of subjects were diagnosed with Hashimoto's thyroiditis and multinodular goitre. CONCLUSIONS: RCCs occur mostly in females and may result in a variety of symptoms and hormonal dysfunction. Patients require a full clinical and endocrine evaluation regardless of the cyst diameter. We report a substantial co-occurrence of RCC and metabolic disorders and primary thyroid diseases, which requires further investigation.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Tontura/etiologia , Cefaleia/etiologia , Imageamento por Ressonância Magnética/métodos , Hipófise/anormalidades , Transtornos da Visão/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos do Sistema Nervoso Central/complicações , Cistos do Sistema Nervoso Central/epidemiologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
2.
World Neurosurg ; 149: e455-e459, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33567367

RESUMO

BACKGROUND: Rathke cleft cysts (RCCs) are benign sellar lesions originating from remnants of primitive ectoderm. They have not been previously linked to other cystic lesions, such as pineal cysts (PCs). Our objective was to perform a multicenter cross-sectional neuroimaging study to examine prevalence rates of coexisting RCC and PC. METHODS: We retrospectively queried prospectively maintained, institutional review board-approved, databases from the authors' centers. All patients undergoing transsphenoidal surgery for RCC between the years of 2011 and 2020 were included for analysis. Preoperative magnetic resonance imaging was reviewed to identify the coexistence of a PC. Patient demographics and neuroimaging characteristics were recorded. A control cohort comprised of 100 age- and sex-matched patients with nonfunctional pituitary adenoma (NFPA) who also underwent surgical intervention was utilized. RESULTS: Eighty-four patients with RCC were identified for analysis. A coexistent PC was identified in 40.5% (n = 34) of patients with RCC compared with 14.3% (n = 12) in the NFPA cohort (P < 0.001). There was no significant difference in PC size between patients with RCC and PA (8 vs. 8.8 mm, respectively; P = 0.77). Although the majority (85.7%; n = 72) of the RCC cohort were female patients, there was no sex predominance with respect to coexisting PC in either the RCC or PA cohort. CONCLUSIONS: This is the first study to report an increased prevalence of coexisting PC and RCC, possibly because of an embryologic link or other propensity for intracranial cyst formation. Additional studies in more generalizable populations can further explore the relation between RCC and PC, or other cyst formation.


Assuntos
Cistos do Sistema Nervoso Central/epidemiologia , Pinealoma/epidemiologia , Neoplasias Hipofisárias/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos do Sistema Nervoso Central/patologia , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pinealoma/patologia , Neoplasias Hipofisárias/patologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
3.
Clin Endocrinol (Oxf) ; 94(2): 269-276, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33098093

RESUMO

OBJECTIVE: To determine the incidence of pituitary incidentalomas in the paediatric population and among its different age subgroups as well as to identify the characteristics of these lesions. Additionally, we aim to give a perspective on the management and follow-up of these patients. DESIGN AND PATIENTS: We retrospectively studied MRI of children aged 18 years or below who underwent MRI with sellar region within their field of view between January 2010 and December 2018. MEASUREMENTS: Pituitary lesions were considered incidental according to the definition by the Endocrine Society. We reported the size, location and signal characteristics of each lesion. Medical charts of the subjects were reviewed for age, sex, the MRI indication and the hormonal assays levels. RESULTS: We identified 40 pituitary lesions of which 31 were incidental lesions. The incidence of pituitary incidentaloma in our cohort was 22 per 1000 patients with female predisposition ( 64.5%) and a mean age of 11 ± 6 years. Rathke's cleft cyst was the most prevalent lesion, accounting for 67.7% followed by cystic pituitary lesions and microadenomas. The most common indications for imaging were growth disturbance (12.9%) followed by headache (9.7%). Abnormal laboratory workup was present in 13% of the subjects. Incidental lesions were more common in the older age groups compared to young children. CONCLUSION: Incidental pituitary lesions in the paediatric population are relatively infrequent and increases with age. Rathke's cleft cyst is the most common incidentally encountered pituitary lesion followed by cystic pituitary lesions and microadenomas.


Assuntos
Cistos do Sistema Nervoso Central , Neoplasias Hipofisárias , Idoso , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Recém-Nascido , Imageamento por Ressonância Magnética , Hipófise/diagnóstico por imagem , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/epidemiologia , Estudos Retrospectivos
4.
Ann Saudi Med ; 40(2): 105-112, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32241168

RESUMO

BACKGROUND: The prevalence of sellar masses (SMs) is reported in Europe and North America but only limited data are available from the Middle East and North Africa (MENA) region. OBJECTIVES: Assess the prevalence and characteristics of SMs in Al Ain city, United Arab Emirates. DESIGN: Retrospective, descriptive multicenter study. SETTING: Three endocrine centers in Al Ain. PATIENTS AND METHODS: All patients diagnosed with SMs in the city of Al Ain, Emirate of Abu Dhabi, between 2011 and 2016 were evaluated. Cases were identified using ICD 9 and 10 codes and demographic and clinical data were collected. The prevalence rate was calculated for patients alive and residing in Al Ain city until 31 December 2016. MAIN OUTCOME MEASURES: Clinical presentations and prevalence rate. SAMPLE SIZE: 272. RESULTS: The mean (SD) age on presentation was 40.8 (14.3) years (range: 6-114 years, median: 40.0). The 170 (61.8%) females and 128 (46.5%) were native citizens of the United Arab Emirates. Two hundred and forty five (90%) patients had pituitary adenomas (PAs) while 27 (10%) had non-pituitary sellar lesions. The four most common SMs were prolactinoma (n=139, 51.1%), nonfunctioning adenoma (NFA) (n= 69, 25.4%), somatotroph adenoma (n=32, 11.8%) and craniopharyngioma (n=15, 5.5%). Patients with prolactinoma, corticotroph adenoma, and Rathke's cleft cyst had small sellar masses (<1 centimeter) while the majority of patients with other SMs had macroadenomas. Hypogonadism and growth hormone deficiency was present in 41.8% and 20.5% of the patients, respectively. Of 268 patients with available data, 82 patients underwent surgery while 25 patients received radiotherapy. At the end of 2016, 197 patients were residing in Al Ain city. The overall prevalence of SMs was 25.7/100 000 with PAs constituting most of these masses (n=177) for a prevalence of 23.1/100 000. CONCLUSIONS: This is the first study of SMs in the United Arab Emirates and the MENA region. Prolactinoma and NFA were the two most common SMs. Further studies are needed to explore the reasons for the lower prevalence of SMs in our region compared with other countries. LIMITATIONS: Retrospective design, relatively small sample size. CONFLICT OF INTEREST: None.


Assuntos
Adenoma/epidemiologia , Cistos do Sistema Nervoso Central/epidemiologia , Craniofaringioma/epidemiologia , Neoplasias Hipofisárias/epidemiologia , Adenoma Hipofisário Secretor de ACT/epidemiologia , Adenoma Hipofisário Secretor de ACT/patologia , Adenoma Hipofisário Secretor de ACT/fisiopatologia , Adenoma Hipofisário Secretor de ACT/terapia , Adenoma/patologia , Adenoma/fisiopatologia , Adenoma/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/terapia , Criança , Craniofaringioma/patologia , Craniofaringioma/fisiopatologia , Craniofaringioma/terapia , Feminino , Hormônio do Crescimento/deficiência , Adenoma Hipofisário Secretor de Hormônio do Crescimento/epidemiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/fisiopatologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/terapia , Humanos , Hipogonadismo/fisiopatologia , Hipopituitarismo/epidemiologia , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/terapia , Prevalência , Prolactinoma/epidemiologia , Prolactinoma/patologia , Prolactinoma/fisiopatologia , Prolactinoma/terapia , Radioterapia , Sela Túrcica , Carga Tumoral , Emirados Árabes Unidos/epidemiologia , Adulto Jovem
5.
Diagn Interv Imaging ; 101(4): 209-215, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31953055

RESUMO

PURPOSE: The purposes of this study were to estimate the prevalence of Rathke cleft cysts (RCC) in a pediatric population on brain MRI, to describe their appearance, and to estimate interobserver agreement in the detection of RCC. MATERIALS AND METHODS: The brain MRI examinations of 460 children were retrospectively reviewed by two radiologists for the presence of RCC. There were 223 boys and 237 girls with a mean age of 8.8±4.3 (standard deviation [SD]) years (range: 0.1-14.9 years). When present, RCC were analyzed with respect to internal contain and further classified as serous RCC (i.e., high signal on T2-weighted sequences and iso or low signal on T1-weighted sequences) or mucosal RCC (i.e., low signal on T2-weighted sequences and high or iso signal on T1-weighted sequences). Cohen's Kappa coefficient was used to estimate interobserver agreement between the interpretations performed by the two radiologists for the presence of RCC. RESULTS: A total of 14 children had a RCC present on brain MRI, yielding a prevalence of 3.04% (14/460); of these, 3/14 RCCs (21%) were of serous type and 11/14 (79%) were of mucosal type. Interobserver agreement for the presence of RCC was strong (Kappa=0.85; 95% CI: 0.70; 0.99). CONCLUSION: The results of our study suggest that the prevalence of RCC in children is greater than previously described.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/epidemiologia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Imageamento por Ressonância Magnética , Neuroimagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos Retrospectivos
6.
Br J Neurosurg ; 34(5): 565-568, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31264489

RESUMO

Objective: Pineal cysts are common benign incidental findings in adults. There are no commonly accepted criteria for follow up or indications for intervention. We looked at our outcomes for this condition to explore their natural history and review our surveillance criteria.Method: Retrospective review of multidisciplinary team meetings at a tertiary neurosurgical centre over 10 years. Data relating to demographics, presenting symptoms, maximum diameter, duration of surveillance, final diagnosis and overall outcome were extracted from electronic patient records and available MRI. Data were analysed using IBM SPSS version 24.Result: Seventy-seven pineal cysts were identified. Female to male ratio was 1.43, female mean age was 38.6 and male mean age was 50.4. An increase in referral frequency was observed over the study period (mean increase of 1.4 cases per year). Presenting symptoms of headache in 45% and visual and hearing symptoms in 38.5% were recorded and baseline mean maximum diameter was 13.4mm. 20 patients were discharged on presentation, 54 were booked for at least one follow-up scan with a median follow up period of 14 months. The mean change in maximum diameter was 0.04mm over 18 months. Three patients (3.9%) underwent endoscopic biopsy and CSF diversion for cysts all more than 20mm with radiological evidence of hydrocephalus. In 100% of cases, the initial MDT diagnosis and final diagnosis were concordant.Conclusions: No patient under surveillance required surgical treatment and those managed surgically were symptomatic with large cysts and hydrocephalus on presentation. A majority of pineal cysts remained unchanged during the MRI follow-up, therefore our review suggests that routine follow-up of pineal cysts is not necessary in the absence of unusual radiological characteristics or related clinical symptoms.


Assuntos
Neoplasias Encefálicas , Cistos do Sistema Nervoso Central , Cistos , Glândula Pineal , Adulto , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/epidemiologia , Hidrocefalia/etiologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/cirurgia , Estudos Retrospectivos
7.
Pediatr Radiol ; 49(13): 1781-1787, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31352514

RESUMO

BACKGROUND: Pituitary pars intermedia/Rathke cleft cysts or cyst-like structures are commonly encountered in children undergoing brain magnetic resonance imaging (MRI), especially when examinations include thin-section, high-resolution sequences. OBJECTIVE: To determine the prevalence of pituitary cystic lesions in children at our institution using modern MRI technique, to assess for associated endocrinopathy and to address the need for follow-up. MATERIALS AND METHODS: We retrospectively reviewed 232 consecutive 1.5- and 3-T brain MRIs in children ages 0-18 years (mean: 8.3±5.3 years). We evaluated 3-D volumetric T1 spoiled gradient echo (SPGR) and axial T2-weighted sequences. Pituitary glands were evaluated for the presence, size and signal characteristics of cysts. Cyst volumes were measured in three orthogonal planes. Endocrine abnormalities were documented from the medical record. RESULTS: Pituitary cysts were present in 57.7% of children (n=134), with a mean linear measurement of 3.6±1.17 mm (range: 0.4 to 12.3 mm). The overwhelming majority of cysts were hyopointense on T1-W images (n=121, 90%) and isointense on T2-W images relative to the adenohypophysis (n=106, 79%). T1 hyperintense and T2 hypointense signals were present in a minority, 6.7% and 8%, respectively. Most cysts were occult on post-contrast T1-W images (n=24, 77%). Endocrine abnormalities were present in 2/134 (1.5%) of children with cysts (these were unrelated to the pituitary gland) versus 1/98 (1%) children without cysts (P=0.7). CONCLUSION: More often than not, pituitary cysts/cyst-like structures can be found incidentally in children using modern MRI techniques. Follow-up is not typically required if there are no associated symptoms or excessive size.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Neoplasias Hipofisárias/diagnóstico por imagem , Intensificação de Imagem Radiográfica , Adolescente , Distribuição por Idade , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/patologia , Criança , Pré-Escolar , Estudos de Coortes , Meios de Contraste , Cistos , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/patologia , Prevalência , Estudos Retrospectivos , Medição de Risco
8.
Neurosurgery ; 85(5): 632-641, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30335175

RESUMO

BACKGROUND: Brain metastases (BM) treated with surgical resection and focal postoperative radiotherapy have been associated with an increased risk of subsequent leptomeningeal dissemination (LMD). BMs with hemorrhagic and/or cystic features contain less solid components and may therefore be at higher risk for tumor spillage during resection. OBJECTIVE: To investigate the association between hemorrhagic and cystic BMs treated with surgical resection and stereotactic radiosurgery and the risk of LMD. METHODS: One hundred thirty-four consecutive patients with a single resected BM treated with adjuvant stereotactic radiosurgery from 2008 to 2016 were identified. Intracranial outcomes including LMD were calculated using the cumulative incidence model with death as a competing risk. Univariable analysis and multivariable analysis were assessed using the Fine & Gray model. Overall survival was analyzed using the Kaplan-Meier method. RESULTS: Median imaging follow-up was 14.2 mo (range 2.5-132 mo). Hemorrhagic and cystic features were present in 46 (34%) and 32 (24%) patients, respectively. The overall 12- and 24-mo cumulative incidence of LMD with death as a competing risk was 11.0 and 22.4%, respectively. On multivariable analysis, hemorrhagic features (hazard ratio [HR] 2.34, P = .015), cystic features (HR 2.34, P = .013), breast histology (HR 3.23, P = .016), and number of brain metastases >1 (HR 2.09, P = .032) were independently associated with increased risk of LMD. CONCLUSION: Hemorrhagic and cystic features were independently associated with increased risk for postoperative LMD. Patients with BMs containing these intralesion features may benefit from alternative treatment strategies to mitigate this risk.


Assuntos
Neoplasias Encefálicas/secundário , Neoplasias Encefálicas/cirurgia , Cistos do Sistema Nervoso Central/etiologia , Hemorragias Intracranianas/etiologia , Neoplasias Meníngeas/secundário , Procedimentos Neurocirúrgicos/métodos , Radiocirurgia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/diagnóstico por imagem , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/epidemiologia , Estimativa de Kaplan-Meier , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Pessoa de Meia-Idade , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento , Adulto Jovem
9.
World Neurosurg ; 123: e440-e449, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30500583

RESUMO

BACKGROUND: Pituitary tumors are a heterogeneous group of lesions that are usually benign. Therefore, a proper understanding of the anatomy, physiology, and pathology is mandatory to achieve favorable outcomes. Accordingly, diagnostic tests and treatment guidelines should be determined and implemented. Thus, we decided to perform a multicenter study among Italian neurosurgical centers performing pituitary surgery to provide an actual depiction from the neurosurgical standpoint. METHODS: On behalf of the SINch (Società Italiana di Neurochirurgia), a survey was undertaken with the participants to explore the activities in the field of pituitary surgery within 41 public institutions. RESULTS: Of the 41 centers, 37 participated in the present study. The total number of neurosurgical procedures performed in 2016 was 1479. Most of the procedures were performed using the transsphenoidal approach (1320 transsphenoidal [1204 endoscopic, 53 microscopic, 53 endoscope-assisted microscopic] vs. 159 transcranial). A multidisciplinary tumor board is convened regularly in 32 of 37 centers, and a research laboratory is present in 18 centers. CONCLUSIONS: Diagnosing pituitary/hypothalamus disorders and treating them is the result of teamwork, composed of several diverse experts. Regarding neurosurgery, our findings have confirmed the central role of the transsphenoidal approach, with preference toward the endoscopic technique. Better outcomes can be expected at centers with a multidisciplinary team and a full, or part of a, residency program, with a greater surgical caseload.


Assuntos
Adenoma/cirurgia , Cistos do Sistema Nervoso Central/cirurgia , Craniofaringioma/cirurgia , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Neoplasias Hipofisárias/cirurgia , Adenoma/epidemiologia , Cistos do Sistema Nervoso Central/epidemiologia , Craniofaringioma/epidemiologia , Humanos , Itália/epidemiologia , Avaliação das Necessidades , Equipe de Assistência ao Paciente/organização & administração , Hipófise/cirurgia , Neoplasias Hipofisárias/epidemiologia
10.
Fetal Diagn Ther ; 46(1): 38-44, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30199879

RESUMO

INTRODUCTION: Fetal spina bifida repair (fSBR) has proven effective in the reversibility of hindbrain herniation, lower rate of shunt-dependent hydrocephalus, and independent ambulation. Besides distinct advantages, there are also concerns related to fSBR. One of these is the postnatal occurrence of inclusion cysts (IC). METHODS: In a prospective study, 48 children who underwent fSBR were followed up. Postnatal assessment included clinical examination, cystometry, and spinal MRI. Indication for IC resection was the evidence of a spinal mass on MRI in the presence of deteriorating motor or bladder function, pain, or considerable growth of the IC. RESULTS: Fourteen children (30%) developed IC, all within the first 2 years of life. Six children underwent IC resection; 4 children due to deteriorating function, 2 children due to doubling of the mass on MRI within 1 year. Following IC resection, 4/6 children (67%) demonstrated altered motor function and 6 children (100%) were diagnosed with neurogenic bladder dysfunction. CONCLUSIONS: Systematic follow-up of patients with a history of fSBR revealed a high incidence of IC. Whether these are of dysembryogenic or iatrogenic origin, remains unclear. Since both IC per se and IC resection may lead to loss of neurologic function, IC can be considered a "third hit".


Assuntos
Cistos do Sistema Nervoso Central/complicações , Disrafismo Espinal/complicações , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/cirurgia , Feminino , Feto/cirurgia , Humanos , Incidência , Lactente , Imageamento por Ressonância Magnética , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/epidemiologia , Gravidez , Estudos Prospectivos , Disrafismo Espinal/cirurgia
11.
J Perinatol ; 39(2): 269-277, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30552376

RESUMO

OBJECTIVE: To identify the temporal trends, risk factors and outcomes of cystic white matter injury (WMI) detected by ultrasound in a population-based cohort of very preterm infants (VPI) with a minimal risk of selection bias. STUDY DESIGN: All live-born VPIs between 22 and < 31 weeks gestational age born in Nova Scotia, Canada from 1993 to 2013. RESULTS: Cystic WMI was identified in 87 (7%) out of 1184 eligible infants. The gestational age and mortality adjusted prevalence of cystic WMI decreased over time (p = 0.04). In multivariable analysis, chorioamnionitis, antenatal steroids, admission hypothermia, ventilator support, inotropes, and non-Coagulase-negative Staphylococcal and fungal infections were independently associated with cystic WMI. Cerebral palsy was the most common disability in the survivors, however, half of the survivors had none or mild disability. CONCLUSIONS: This cohort study demonstrated a decreasing trend in the incidence of cystic WMI and reported population-based neurological outcomes with cystic WMI, which is important for health-care planning and parental counseling.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Ultrassonografia/métodos , Substância Branca/patologia , Paralisia Cerebral/diagnóstico por imagem , Paralisia Cerebral/epidemiologia , Feminino , Idade Gestacional , Humanos , Lactente , Lactente Extremamente Prematuro , Recém-Nascido , Modelos Logísticos , Masculino , Análise Multivariada , Nova Escócia/epidemiologia , Estudos Retrospectivos
12.
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
13.
J Neurol Sci ; 363: 207-16, 2016 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-27000252

RESUMO

BACKGROUND: While most pineal cysts (PCs) are asymptomatic, some PCs are accompanied with symptoms of variable severity. We suggested that symptom severity in symptomatic patients with non-hydrocephalic PCs relates to venous compression causing central venous hypertension. This study explored whether possible magnetic resonance imaging (MRI) biomarkers of central venous hypertension could differentiate the severity of symptoms in individuals with non-hydrocephalic PCs. METHODS: The study included all individuals with PCs and MRI available for analysis followed conservatively within the department from 2003 to 2014. Severity of symptoms at follow-up were assessed from a questionnaire. Suggested MRI biomarkers indicative of central venous hypertension were explored, in addition to MRI measures of cyst size, aqueduct stenosis, and tectal compression. RESULTS: The study included 66 patients. As compared to the 27/66 patients (41%) with "None-Moderate" symptoms at follow-up, the 39/66 patients (59%) with "Much-Severe" symptoms presented with significantly altered indices of central venous hypertension (tectum-splenium-cyst ratio and indices of thalamic and periventricular edema). PC grading based on MRI biomarkers of central venous hypertension differentiated the severity of symptoms. CONCLUSION: The results indicate an association between severity of symptoms and MRI biomarkers of central venous hypertension in symptomatic individuals with non-hydrocephalic PCs.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Hipertensão/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Pinealoma/diagnóstico por imagem , Adulto , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/metabolismo , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/metabolismo , Pressão Venosa Central , Estudos de Coortes , Feminino , Seguimentos , Humanos , Hipertensão/epidemiologia , Hipertensão/metabolismo , Masculino , Pinealoma/epidemiologia , Pinealoma/metabolismo
14.
World Neurosurg ; 90: 96-102, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26944882

RESUMO

OBJECTIVE: The natural history of incidental pineal cysts is poorly understood. Neurosurgeons and neuroradiologists are more frequently faced with this disease in the advent of higher-resolution magnetic resonance imaging (MRI) scanning. We aim to suggest a suitable surveillance strategy for these patients. METHODS: All patients who had MRI of the brain between June 2007 and January 2014 (n = 42,099) at The Walton Centre for Neurology and Neurosurgery were included. Radiologic reports containing the terms "pineal" and "cyst" were reviewed to identify patients. RESULTS: A total of 281 patients were identified with pineal cysts. The principal indication for head MRI was headache (50.2%), although no symptoms were deemed attributable to pineal disease. A total of 178 patients (63.3%) were female, and the age at diagnosis ranged from 16 to 84 years. The median size of pineal cyst at diagnosis was 10 mm. A total of 181 patients had subsequent follow-up at a median time of 6 months (range, 1-68). Eleven pineal cysts (6%) changed size during the follow-up period. Four patients had a reduction in cyst size; the median change was 2.5 mm. A further 7 pineal cysts increased in cyst size; the median change was 2 mm. No patients developed complications. CONCLUSIONS: Incidental pineal cysts typically show a benign course. In the adult population, they do not require long-term neurosurgical follow-up, because pineal cysts tend to remain a stable size. In asymptomatic patients, we recommend a single follow-up MRI scan at 12 months to confirm diagnosis. The patient should then be discharged if the cyst remains stable.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Imageamento por Ressonância Magnética/estatística & dados numéricos , Pinealoma/diagnóstico por imagem , Pinealoma/epidemiologia , Vigilância de Evento Sentinela , Adolescente , Adulto , Distribuição por Idade , Idoso , Criança , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Achados Incidentais , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Sensibilidade e Especificidade , Distribuição por Sexo , Reino Unido/epidemiologia , Adulto Jovem
15.
Pediatr Radiol ; 46(3): 357-64, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26754537

RESUMO

BACKGROUND: Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. Antenatal imaging and postnatal imaging are useful in making the diagnosis. Untreated holocarboxylase synthetase deficiency is fatal, while antenatal and postnatal biotin supplementation is associated with good clinical outcomes. Although biochemical assays are required for definitive diagnosis, certain radiologic features assist in the diagnosis of holocarboxylase synthetase deficiency. OBJECTIVE: To review evidence regarding radiologic diagnostic features of holocarboxylase synthetase deficiency in the antenatal and postnatal period. MATERIALS AND METHODS: A systematic review of all published cases of holocarboxylase synthetase deficiency identified by a search of Pubmed, Scopus and Web of Science. RESULTS: A total of 75 patients with holocarboxylase synthetase deficiency were identified from the systematic review, which screened 687 manuscripts. Most patients with imaging (19/22, 86%) had abnormal findings, the most common being subependymal cysts, ventriculomegaly and intraventricular hemorrhage. CONCLUSION: Although the radiologic features of subependymal cysts, ventriculomegaly, intraventricular hemorrhage and intrauterine growth restriction may be found in the setting of other pathologies, these findings should prompt consideration of holocarboxylase synthetase deficiency in at-risk children.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Deficiência de Holocarboxilase Sintetase/diagnóstico por imagem , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Cistos do Sistema Nervoso Central/epidemiologia , Hemorragia Cerebral/epidemiologia , Diagnóstico Diferencial , Feminino , Deficiência de Holocarboxilase Sintetase/epidemiologia , Humanos , Hidrocefalia/epidemiologia , Recém-Nascido , Masculino , Prevalência , Reprodutibilidade dos Testes , Medição de Risco , Sensibilidade e Especificidade , Imagem Corporal Total/métodos , Imagem Corporal Total/estatística & dados numéricos
16.
Clin Neurol Neurosurg ; 139: 144-51, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26473987

RESUMO

OBJECTIVE: Repeated chronic inflammation, such as under circumstances of ruptured Rathke's cleft cyst (RCC), is known as the fundamental basis of various pathological changes including neoplastic change, therefore to examine accurate incidence of pituitary adenomas is important for the preventive medicine. MATERIALS AND METHODS: As a prospective study, patients were initially screened by the symptoms such as periodic headache and dizziness together with the abnormal findings such as seller floor bone defect on 3D-CT. Those screened patients who showed abnormal basal pituitary hormone values were additionally examined by several loading test and 3T magnetic resonance imaging (MRI) by three-dimensional reconstructions of Flair cube images. The presence of pituitary adenomas was evaluated by composite 3T MRI and (11)C methionine MET positron-emission tomography imaging. Immunohistochemical studies were employed for surgical biopsy specimens to demonstrate hormone production. RESULTS: 308 cases of RCC were diagnosed by both radiologic and intraoperative findings. Pathological examination confirmed 111 pituitary adenomas in 106 patients with ruptured RCC, therefore the rate of coincidence was revealed 34%. In 78 patients with abnormalities of pituitary hormone secretion, MET uptake was observed in the pituitary gland and verified pituitary adenoma pathologically. In addition, 28 adenomas were verified without MET-PET study on pathological examination only, for a total of 106 cases. CONCLUSIONS: High coincidence (34%) of ruptured RCC and pituitary adenomas was demonstrated, which is a proof that ruptured RCC is contributed to a risk factor of pituitary adenoma.


Assuntos
Adenoma/patologia , Cistos do Sistema Nervoso Central/patologia , Neoplasias Hipofisárias/patologia , Adenoma/diagnóstico por imagem , Adenoma/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Criança , Comorbidade , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/epidemiologia , Estudos Prospectivos , Cintilografia , Fatores de Risco , Adulto Jovem
17.
J Coll Physicians Surg Pak ; 25(8): 588-91, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26305305

RESUMO

OBJECTIVE: To report clinicopathologic features of symptomatic surgically removed non-neoplastic cysts of the central nervous system (CNS). STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from 2003 to 2012. METHODOLOGY: All non-neoplastic CNS cysts reported during the study period were retrieved and reviewed. Age, gender, location, histologic type and clinical features were noted. RESULTS: A total of 124 cysts were diagnosed in the study period. These included 44 epidermoid cysts (mean age 30.5 ± 13.8 years), 35 colloid cysts (mean age 31 ±13.2 years), 32 arachnoid cysts (mean age 24.8 ±20.2 years), 6 dermoid cysts, 3 enterogenous cysts and Rathke's cleft cysts each and 1 ependymal cyst. All cyst types mainly presented in young adults in both genders with signs and symptoms of a mass lesion. CONCLUSION: Non-neoplastic cyst mainly presented like a CNS mass lesion in young adults. Epidermoids were the most common type of these cysts in the present series followed by the colloid and the arachnoid cysts.


Assuntos
Cistos do Sistema Nervoso Central/cirurgia , Cisto Epidérmico/cirurgia , Adolescente , Adulto , Distribuição por Idade , Idoso , Cistos Aracnóideos/epidemiologia , Cistos Aracnóideos/cirurgia , Cistos do Sistema Nervoso Central/classificação , Cistos do Sistema Nervoso Central/epidemiologia , Cistos Coloides/epidemiologia , Cistos Coloides/cirurgia , Cisto Epidérmico/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Estudos Retrospectivos , Distribuição por Sexo , Resultado do Tratamento , Adulto Jovem
18.
Handb Clin Neurol ; 124: 255-69, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25248592

RESUMO

Rathke's cleft cysts are benign sellar and suprasellar lesions arising from epithelial remnants of Rathke's pouch with a peak incidence at 30-50 years of age. The majority are between 10 and 20mm in diameter and contain mucoid or gelatinous material encapsulated in a thin cyst wall of simple or pseudostratified cuboidal or columnar epithelium. Symptomatic cases are rare, but incidental lesions are found in 11% of unselected postmortem cases. The pathogenesis of these lesions is uncertain, but they may occasionally share histopathologic features with (papillary) craniopharyngiomas. The most common presenting symptoms include headaches, visual disturbance, and pituitary hormone abnormalities. MRI reveals well-demarcated homogenous lesions with variable intensity that is highly dependent on cyst contents, which can range from clear, CSF-like fluid to thick, mucoid material. Treatment is almost invariably surgical with the aim of draining the cyst contents and removing the surrounding capsule. The recurrence rate is uncertain due to a lack of studies with long follow-up periods, but risk factors associated with increased likelihood of recurrence include cyst size, presence of squamous metaplasia of the cyst wall, incomplete resection or intraoperative CSF leak, and the need for an abdominal fat graft or sellar packing.


Assuntos
Cistos do Sistema Nervoso Central/diagnóstico , Hipófise/patologia , Animais , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/metabolismo , Diabetes Insípido/diagnóstico , Diabetes Insípido/epidemiologia , Diabetes Insípido/metabolismo , Cefaleia/diagnóstico , Cefaleia/epidemiologia , Cefaleia/metabolismo , Humanos
19.
Childs Nerv Syst ; 29(5): 753-60, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23283557

RESUMO

PURPOSE: Pineal cysts (PC) are found in children as often asymptomatic and without change in their size over the time. However, there are some debatable issues about their evolution and management in the pediatric population. The aim of the present paper is to update the information regarding pathogenesis, clinical presentation, and management of these lesions. METHODS: All the pertinent literature was reviewed, and a meta-analysis of operated on cases was carried out. An illustrative case regarding the clinical evolution of a 13-year-old girl is also presented. RESULTS AND CONCLUSIONS: PC are often asymptomatic and do not evolve over the time. However, since there is a certain risk of clinical and/or radiological progression, or even sudden and severe clinical onset (apoplexy), both a clinical and radiological follow-up is recommended in the pediatric age. The surgical excision is usually limited to symptomatic patients or to cases with clear radiological evolution.


Assuntos
Cistos do Sistema Nervoso Central , Doenças do Sistema Endócrino , Glândula Pineal/patologia , Adolescente , Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/cirurgia , Criança , Pré-Escolar , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/epidemiologia , Doenças do Sistema Endócrino/cirurgia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Glândula Pineal/cirurgia , Prevalência
20.
Int J Radiat Oncol Biol Phys ; 85(1): 53-60, 2013 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-22652110

RESUMO

PURPOSE: Little is known about delayed complications after stereotactic radiosurgery in long-surviving patients with brain metastases. We studied the actual incidence and predictors of delayed complications. PATIENTS AND METHODS: This was an institutional review board-approved, retrospective cohort study that used our database. Among our consecutive series of 2000 patients with brain metastases who underwent Gamma Knife radiosurgery (GKRS) from 1991-2008, 167 patients (8.4%, 89 women, 78 men, mean age 62 years [range, 19-88 years]) who survived at least 3 years after GKRS were studied. RESULTS: Among the 167 patients, 17 (10.2%, 18 lesions) experienced delayed complications (mass lesions with or without cyst in 8, cyst alone in 8, edema in 2) occurring 24.0-121.0 months (median, 57.5 months) after GKRS. The actuarial incidences of delayed complications estimated by competing risk analysis were 4.2% and 21.2% at the 60th month and 120th month, respectively, after GKRS. Among various pre-GKRS clinical factors, univariate analysis demonstrated tumor volume-related factors: largest tumor volume (hazard ratio [HR], 1.091; 95% confidence interval [CI], 1.018-1.154; P=.0174) and tumor volume≤10 cc vs >10 cc (HR, 4.343; 95% CI, 1.444-12.14; P=.0108) to be the only significant predictors of delayed complications. Univariate analysis revealed no correlations between delayed complications and radiosurgical parameters (ie, radiosurgical doses, conformity and gradient indexes, and brain volumes receiving >5 Gy and >12 Gy). After GKRS, an area of prolonged enhancement at the irradiated lesion was shown to be a possible risk factor for the development of delayed complications (HR, 8.751; 95% CI, 1.785-157.9; P=.0037). Neurosurgical interventions were performed in 13 patients (14 lesions) and mass removal for 6 lesions and Ommaya reservoir placement for the other 8. The results were favorable. CONCLUSIONS: Long-term follow-up is crucial for patients with brain metastases treated with GKRS because the risk of complications long after treatment is not insignificant. However, even when delayed complications occur, favorable outcomes can be expected with timely neurosurgical intervention.


Assuntos
Edema Encefálico/etiologia , Neoplasias Encefálicas/cirurgia , Cistos do Sistema Nervoso Central/etiologia , Radiocirurgia/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Edema Encefálico/diagnóstico , Edema Encefálico/epidemiologia , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/secundário , Cistos do Sistema Nervoso Central/diagnóstico , Cistos do Sistema Nervoso Central/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Estudos Retrospectivos , Terapia de Salvação/métodos , Taxa de Sobrevida , Sobreviventes , Fatores de Tempo , Carga Tumoral , Adulto Jovem
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