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1.
Am J Med Genet C Semin Med Genet ; 190(4): 530-540, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36533693

RESUMO

RASopathies are a set of clinical syndromes that have molecular and clinical overlap. Genetically, these syndromes are defined by germline pathogenic variants in RAS/MAPK pathway genes resulting in activation of this pathway. Clinically, their common molecular signature leads to comparable phenotypes, including cardiac anomalies, neurologic disorders and notably, elevated cancer risk. Cancer risk in individuals with RASopathies has been estimated from retrospective reviews and cohort studies. For example, in Costello syndrome, cancer incidence is significantly elevated over the general population, largely due to solid tumors. In some forms of Noonan syndrome, cancer risk is also elevated over the general population and is enriched for hematologic malignancies. Thus, cancer surveillance guidelines have been developed to monitor for the occurrence of such cancers in individuals with some RASopathies. These include abdominal ultrasound and urinalyses for individuals with Costello syndrome, while complete blood counts and splenic examination are recommended in Noonan syndrome. Improved cancer risk estimates and refinement of surveillance recommendations will improve the care of individuals with RASopathies.


Assuntos
Síndrome de Costello , Neoplasias , Síndrome de Noonan , Humanos , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Síndrome de Noonan/patologia , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Incidência , Estudos Retrospectivos , Proteínas ras/genética , Neoplasias/epidemiologia , Neoplasias/genética
2.
Clin Genet ; 101(4): 454-458, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35038173

RESUMO

Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto-oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to analyze prevalence and histological characterization of bladder cancer (BC) in a cohort of patients with CS to help clinicians plan effective management strategies. This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neoplasm of low-malignant potential in 19%. BC G1/low grade (Ta) were removed in 10%. Overall, 76% of patients showed a bladder lesion at first cystoscopy. The present findings document that individuals with CS aged 10 years and older have high prevalence of bladder lesions (premalignant/malignant), highlighting the importance of personalized screening protocols.


Assuntos
Síndrome de Costello , Neoplasias da Bexiga Urinária , Criança , Tomada de Decisão Clínica , Síndrome de Costello/diagnóstico , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Feminino , Humanos , Masculino , Mutação , Prevalência , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/epidemiologia , Neoplasias da Bexiga Urinária/genética
3.
Prenat Diagn ; 41(3): 362-367, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33150592

RESUMO

OBJECTIVE: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. METHODS: In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios. RESULTS: Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05). CONCLUSION: Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.


Assuntos
Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/genética , Adulto , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/epidemiologia , Malformações Arteriovenosas/genética , Capilares/anormalidades , Estudos de Coortes , Síndrome de Costello/diagnóstico , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/epidemiologia , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/genética , Feminino , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Poli-Hidrâmnios/epidemiologia , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Mancha Vinho do Porto/genética , Gravidez , Prevalência , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos
4.
Am J Med Genet A ; 182(1): 130-136, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31680412

RESUMO

Costello syndrome (CS) is an autosomal-dominant condition caused by activating missense mutations in HRAS. There is little literature describing health concerns specific to adults with CS. Parents of individuals with CS need to know what to anticipate as their children age. We surveyed a group of 20 adults and older adolescents with CS regarding their medical concerns and lifestyle characteristics. We identified several previously undescribed actionable medical concerns in adults with CS. First, the high prevalence of anxiety in this cohort indicates that screening for anxiety is warranted since this is a treatable condition that can have a significant impact on quality of life. Second, adults with CS should be monitored for progressive contractures or other problems that could decrease mobility. This is especially important in a population that seems to have increased risk for osteopenia. Finally, the lack of cancer diagnoses in adulthood is of interest, although the cohort is too small to draw definitive conclusions about cancer risk in adults with CS. Ongoing follow-up of the current cohort of adults with CS is necessary to delineate progressive medical and physical problems, which is essential for providing targeted management recommendations and anticipatory guidance to families.


Assuntos
Ansiedade/epidemiologia , Síndrome de Costello/epidemiologia , Neoplasias/epidemiologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Adolescente , Adulto , Ansiedade/complicações , Ansiedade/genética , Ansiedade/patologia , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/genética , Doenças Ósseas Metabólicas/patologia , Criança , Síndrome de Costello/complicações , Síndrome de Costello/genética , Síndrome de Costello/patologia , Feminino , Humanos , Masculino , Neoplasias/complicações , Neoplasias/genética , Neoplasias/patologia , Fenótipo , Qualidade de Vida , Adulto Jovem
5.
Am J Med Genet A ; 179(6): 940-947, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30854769

RESUMO

Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio-facio-cutaneous syndrome (N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r-FLACC, Wang-Baker scale, NPSI, BPI, NCCPC-R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs-QL, SF-36) and sleeping patterns (SDSC); revision of past medical history and multisystemic evaluation was provided. Available clinical data were correlated to the presence of pain. High prevalence of acute (44%) and chronic (61%) pain was documented in the examined sample. Due to age and intellectual disability, acute pain was localized in 18/35 individuals and chronic pain in 33/49. Muscle-skeletal and abdominal pain was more frequently reported. The intensity of acute and chronic pain interfered with daily activities in 1/3 of the sample. Pain negatively impacted on QoL and sleeping patterns. This work documents that pain is highly prevalent in RASopathies. Future studies including subjective and objective measures of pain are required to discriminate a somatosensory abnormality from an abnormal elaboration of painful stimuli at a central level.


Assuntos
Síndrome de Costello/complicações , Síndrome de Costello/epidemiologia , Displasia Ectodérmica/complicações , Displasia Ectodérmica/epidemiologia , Insuficiência de Crescimento/complicações , Insuficiência de Crescimento/epidemiologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Síndrome de Noonan/complicações , Síndrome de Noonan/epidemiologia , Dor/epidemiologia , Dor/etiologia , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de Costello/diagnóstico , Síndrome de Costello/etiologia , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/etiologia , Fácies , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/etiologia , Feminino , Marcadores Genéticos , Mutação em Linhagem Germinativa , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/etiologia , Humanos , Lactente , Masculino , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/etiologia , Dor/diagnóstico , Fenótipo , Prevalência , Vigilância em Saúde Pública , Inquéritos e Questionários , Adulto Jovem
6.
Clin Cancer Res ; 23(12): e83-e90, 2017 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-28620009

RESUMO

In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83-e90. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.


Assuntos
Anormalidades Múltiplas/epidemiologia , Hipotireoidismo Congênito/epidemiologia , Anormalidades Craniofaciais/epidemiologia , Deformidades Congênitas da Mão/epidemiologia , Deficiência Intelectual/epidemiologia , Unhas Malformadas/epidemiologia , Síndrome de Rubinstein-Taybi/epidemiologia , Síndrome de Sotos/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Hipotireoidismo Congênito/genética , Hipotireoidismo Congênito/patologia , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Síndrome de Costello/patologia , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Mutação , Unhas Malformadas/genética , Unhas Malformadas/patologia , Síndromes Neoplásicas Hereditárias/epidemiologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/genética , Síndrome de Noonan/patologia , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Fatores de Risco , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/patologia , Síndrome de Sotos/genética , Síndrome de Sotos/patologia , Fator Nuclear 1 de Tireoide/genética
7.
Am J Med Genet A ; 173(5): 1294-1300, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28374929

RESUMO

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.


Assuntos
Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Síndrome de Costello/epidemiologia , Síndrome de Costello/fisiopatologia , Adolescente , Fatores Etários , Transtorno do Espectro Autista/genética , Criança , Pré-Escolar , Síndrome de Costello/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Comportamento Social , Inquéritos e Questionários
8.
Endocr Regul ; 47(4): 217-22, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24156711

RESUMO

OBJECTIVES: The term ´Rasopathies´ represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose-Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation of this pathway can lead to the risk of tumorigenesis. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Rasopathies with special attention for the risk of cancer. We propose also clinical and therapeutic approach for patients with malignancy. METHODS: We are reviewing the clinical and molecular basis of Rasopathies based on recent studies, clinical examination, and molecular diagnostics (mutation analysis of causal genes for Rasopathies) in Slovak pediatric patients. RESULTS: Some clinical features, such as short stature, a specific facial dysmorphology and cardiac abnormalities are common to all of Rasopathy syndromes. However, there are unique signs by which the syndromes can differ from each other, especially multiple lentigo in LEOPARD syndrome, increased risk of malignancy in Costello syndrome, dry hyperkeratotic skin in patients with cardio-facio-cutaneous syndrome, and neurofibromas and cafe-au-lait spots in neurofibromatosis-Noonan syndrome. CONCLUSION: Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis.


Assuntos
Síndrome de Costello/genética , Displasia Ectodérmica/genética , Insuficiência de Crescimento/genética , Cardiopatias Congênitas/genética , Neoplasias/genética , Neurofibromatoses/genética , Síndrome de Noonan/genética , Proteínas ras/genética , Estatura/genética , Síndrome de Costello/epidemiologia , Síndrome de Costello/metabolismo , Displasia Ectodérmica/epidemiologia , Displasia Ectodérmica/metabolismo , Fácies , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/metabolismo , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/metabolismo , Humanos , Sistema de Sinalização das MAP Quinases/genética , Neoplasias/epidemiologia , Neoplasias/metabolismo , Neurofibromatoses/epidemiologia , Neurofibromatoses/metabolismo , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/metabolismo , Fatores de Risco , Proteínas ras/metabolismo
9.
Am J Med Genet A ; 158A(5): 1083-94, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22495831

RESUMO

Costello syndrome and cardio-facio-cutaneous (CFC) syndrome are congenital anomaly syndromes characterized by a distinctive facial appearance, heart defects, and intellectual disability. Germline mutations in HRAS cause Costello syndrome, and mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) cause CFC syndrome. Since the discovery of the causative genes, approximately 150 new patients with each syndrome have been reported. However, the clinico-epidemiological features of these disorders remain to be identified. In order to assess the prevalence, natural history, prognosis, and tumor incidence associated with these diseases, we conducted a nationwide prevalence study of patients with Costello and CFC syndromes in Japan. Based on the result of our survey, we estimated a total number of patients with either Costello syndrome or CFC syndrome in Japan of 99 (95% confidence interval, 77-120) and 157 (95% confidence interval, 86-229), respectively. The prevalences of Costello and CFC syndromes are estimated to be 1 in 1,290,000 and 1 in 810,000 individuals, respectively. An evaluation of 15 adult patients 18-32 years of age revealed that 12 had moderate to severe intellectual disability and most live at home without constant medical care. These results suggested that the number of adult patients is likely underestimated and our results represent a minimum prevalence. This is the first epidemiological study of Costello syndrome and CFC syndrome. Identifying patients older than 32 years of age and following up on the patients reported here is important to estimate the precise prevalence and the natural history of these disorders.


Assuntos
Síndrome de Costello/epidemiologia , Displasia Ectodérmica/epidemiologia , Insuficiência de Crescimento/epidemiologia , Cardiopatias Congênitas/epidemiologia , Adolescente , Adulto , Síndrome de Costello/complicações , Coleta de Dados , Displasia Ectodérmica/complicações , Fácies , Insuficiência de Crescimento/complicações , Mutação em Linhagem Germinativa , Cardiopatias Congênitas/complicações , Humanos , Deficiência Intelectual , Japão/epidemiologia , Neoplasias/etiologia , Prevalência , Prognóstico , Adulto Jovem
10.
Genet Med ; 14(3): 285-92, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22261753

RESUMO

Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS. In contrast to somatic oncogenic mutations in neoplasia, the Costello syndrome changes are typically introduced in the paternal germline. The predicted amino acid substitutions allow for constitutive or prolonged activation of the HRAS protein, resulting in dysregulation of the Ras/mitogen activated protein kinase pathway. Dysregulation of this signaling pathway is the disease mechanism shared among Costello syndrome and other rasopathies, including neurofibromatosis type 1, Noonan syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. The Ras/mitogen activated protein kinase pathway governs cell proliferation and differentiation, and its dysregulation affects cardiac and brain development, accounting for the significant overlap in physical and developmental differences and common medical problems among rasopathies. Unlike the genetically heterogeneous Noonan syndrome and cardio-facio-cutaneous syndrome, Costello syndrome is caused by HRAS mutations only. Patients, clinicians, and researchers may benefit from a multidisciplinary "rasopathy clinic," which serves patients with more common conditions such as Noonan syndrome and neurofibromatosis and those affected by rare conditions such as Costello syndrome.


Assuntos
Síndrome de Costello/genética , Mutação em Linhagem Germinativa , Proteínas Proto-Oncogênicas p21(ras)/genética , Alelos , Criança , Síndrome de Costello/diagnóstico , Síndrome de Costello/epidemiologia , Síndrome de Costello/terapia , Fácies , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Prevalência , Proteínas Serina-Treonina Quinases/genética , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas p21(ras)/metabolismo
11.
Am J Med Genet A ; 152A(5): 1161-8, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20425820

RESUMO

Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal cord imaging studies in 27/28 individuals. Posterior fossa crowding with cerebellar tonsillar herniation (CBTH) was noted in 27/28 (96%), and in 10/17 (59%) with serial studies posterior fossa crowding progressed. Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%), and syrinx formation (25%). Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly. Comparison of images obtained in young infants to subsequent studies demonstrated postnatal development of posterior fossa crowding. This process of evolving megalencephaly and cerebellar enlargement is in keeping with mouse model data, delineating abnormal genesis of neurons and glia, resulting in an increased number of astrocytes and enlarged brain volume. In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation.


Assuntos
Cerebelo/anormalidades , Cerebelo/crescimento & desenvolvimento , Síndrome de Costello/epidemiologia , Síndrome de Costello/genética , Mutação/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Medula Espinal/anormalidades , Síndrome de Costello/cirurgia , Humanos , Incidência , Recém-Nascido , Proto-Oncogene Mas
12.
Rev. esp. pediatr. (Ed. impr.) ; 61(3): 225-226, mayo-jun. 2005.
Artigo em Espanhol | IBECS | ID: ibc-126886

RESUMO

El síndrome de Costello ha sido descrito en 115 pacientes hasta la fecha. Reúne una serie de características fenotípicas que sugieren el diagnóstico ya que, en el momento actual, no existe ningún estudio que lo confirme. El interés de este caso radica en el reconocimiento de este síndrome debido al importante incremento de riesgo tumoral que presentan estos pacientes y a que, por tanto, precisan ser sometidos a un protocolo de despistaje de neoplastias: ecografía abdomino-pélvica desde el nacimiento y cada 3-6 meses hasta 8-10 años con objeto de detectar rabdomiosarcoma; determinación de catecolaminas en orina cada 6-12 meses y hasta los 5 años de vida para objetivar neuroblastoma y búsqueda de hematuria por su relación con la presentaciónde cáncer de vejiga (AU)


Costello Síndrome has been described in 115 patients. It consists in different clinical data that suggest the diagnosis. It is important to recognize this syndrome early because these children have an important tumoral risk so they should undergo different tests in order to find neoplasias: an abdo-pelvic ECO should be done from birth till 8-10 years of age every months to look for rhabdomyosarcoma, urinary catecholamine excretion measurements every 6-12 months up the age of 5 years to find neuroblastoma, and annual screening for hematuria from the age of ten onwards because it is related with the bladder cancer (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Síndrome de Costello/epidemiologia , Rabdomiossarcoma/epidemiologia , Catecolaminas/análise , Detecção Precoce de Câncer/métodos , Neuroblastoma/epidemiologia , Neoplasias da Bexiga Urinária/epidemiologia , Fenótipo
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