RESUMEN
BACKGROUND: Central nervous system (CNS) germ cell tumors account for 3 % of all pediatric brain tumors in the USA. Presenting symptoms are typically location based with pineal tumors presenting with obstructive hydrocephalus and suprasellar tumors with hypothalamic/pituitary dysfunction and ophthalmologic abnormalities. Psychiatric manifestations such as psychosis and behavioral changes are atypical presentations of CNS germ cell tumors, with only 11 previously reported cases. METHODS: This is a retrospective case series describing patients with CNS germ cell tumors with an atypical presentation including psychiatric manifestations. Information regarding clinical presentation, treatment course, and outcome were obtained. RESULTS: We report seven patients who presented with psychiatric symptoms consisting of psychomotor delay as well as behavioral and mood changes. Six of the seven patients were diagnosed ≥6 months after onset of psychiatric symptoms. All of the seven are alive but five continue to have neurologic and psychiatric issues post treatment. CONCLUSIONS: Atypical presentations of CNS germ cell tumors can delay diagnosis and treatment and may be secondary to atypical locations as well as endocrine dysfunction manifesting as psychiatric symptoms. Delayed diagnosis did not appear to affect survival but earlier diagnosis may potentially be associated with better neurologic and psychiatric outcome. Patients who present with these symptoms and atypical neuroimaging should have a thorough evaluation for CNS germ cell tumors including serum and CSF markers. Clinicians should be aware of these less common presentations to aid in prompt diagnosis and treatment.
Asunto(s)
Neoplasias Encefálicas/complicaciones , Trastornos Mentales/etiología , Neoplasias de Células Germinales y Embrionarias/complicaciones , Adolescente , Niño , Femenino , Humanos , Masculino , Trastornos Mentales/diagnóstico , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Opsoclonus-myoclonus-ataxia (OMA) is a paraneoplastic neurologic syndrome affecting 2-3% of children with neuroblastoma. Although children with OMA and neuroblastoma may have higher survival, many experience a significant amount of late neurologic impairment, which may be immunologically mediated. The aim of this study was to compare the outcome of neuroblastoma patients with and without OMA, relating to prognostic factors, treatment, and the presence or absence of anti-neuronal antibodies. PROCEDURE: Questionnaires were mailed out requesting information on the current neurologic status of patients who submitted sera at diagnosis to the Children's Cancer Group serum bank from 1980 to 1994. Information was requested on clinical and biological patient characteristics as well as clinical aspects of the patients identified as having OMA syndrome, including presentation and treatment for OMA, late sequelae of OMA, the presence or absence of antineuronal antibodies, and survival. Sera from 16 of the OMA patients and 48 case-controls with neuroblastoma were assayed for anti-neuronal antibodies. RESULTS: Of the 675 responses received, 21 patients had OMA. Ninety percent of OMA patients presented with non-metastatic disease, vs. 35% of non-OMA patients. Estimated 3-year survival for the OMA patients with nonmetastatic disease (stage I, II, III) greater than 1 year of age was 100% vs. 77% for similar non-OMA patients (P = 0.0222). At follow-up, 14/19 evaluable OMA patients displayed some form of developmental or neurologic abnormality. There was no significant correlation of late sequelae with antineuronal antibodies, age, time between OMA symptoms and diagnosis, or treatment given for tumor or OMA. There was a significant correlation of late sequelae with lower stage disease (I and II) compared to more advanced disease (III and IV). CONCLUSIONS: Patients with OMA and neuroblastoma have excellent survival but a high risk of neurologic sequelae. Favorable disease stage correlates with a higher risk for development of neurologic sequelae. The role of anti-neuronal antibodies in late sequelae of OMA needs further clarification.
Asunto(s)
Ataxia/diagnóstico , Ataxia/mortalidad , Autoanticuerpos/biosíntesis , Neuroblastoma/diagnóstico , Neuroblastoma/mortalidad , Síndromes Paraneoplásicos del Sistema Nervioso/diagnóstico , Síndromes Paraneoplásicos del Sistema Nervioso/mortalidad , Adolescente , Ataxia/inmunología , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Neuroblastoma/inmunología , Neuronas/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/inmunología , Pronóstico , Factores de Riesgo , Tasa de SupervivenciaRESUMEN
BACKGROUND: Opsoclonus-myoclonus-ataxia (OMA) is a paraneoplastic syndrome that occurs in about 2-3% of all cases of neuroblastoma. The histopathologic characteristics of neuroblastoma tumors associated with this syndrome were evaluated in a series of cases and controls. PROCEDURE: Pathology slides from a total of 54 neuroblastoma tumors were reviewed blindly. They included 13 tumors associated with opsoclonus-myoclonus and 41 age- and stage-matched controls. All tumors were classified into either the favorable (FH) or unfavorable histology (UH) group according to the International Neuroblastoma Pathology Classification (the Shimada system). Grade of lymphocytic infiltration was evaluated and presence or absence of lymphoid follicles was recorded in the individual tumor tissues. RESULTS: Twelve of 13 cases with opsoclonus-myoclonus were in the FH group. Twelve of 13 cases had diffuse (found in every section prepared from the multiple portions of the primary tumor) and extensive (occupying more than 50% of a single of multiple microscopic fields with x 100 magnification) lymphocytic infiltration with lymphoid follicles. Of the 41 control cases (27 FH and 14 UH tumors), 18 had focal areas of lymphocytic infiltration and six showed lymphoid follicles, but none had diffuse or extensive infiltration in their primary tumors. CONCLUSIONS: Diffuse and extensive lymphocytic infiltration with lymphoid follicles is a characteristic histologic feature of neuroblastic tumors with opsoclonus-myoclonus. This observation suggests an immune-mediated mechanism for this rare paraneoplastic syndrome.
Asunto(s)
Neuroblastoma/patología , Síndromes Paraneoplásicos del Sistema Nervioso/patología , Adolescente , Adulto , Ataxia/inmunología , Ataxia/patología , Niño , Femenino , Humanos , Linfocitos Infiltrantes de Tumor/inmunología , Masculino , Neuroblastoma/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/inmunologíaRESUMEN
PURPOSE: To identify serologic markers in children with paraneoplastic opsoclonus-myoclonus (POM). MATERIALS AND METHODS: We examined the sera of 64 children with neuroblastoma (16 with POM and 48 age-matched and stage-matched controls) by immunohistochemistry of rat brain and human cerebellum, and by Western blot analysis of protein extracts from human Purkinje cells, cortical neurons, neuroblastoma cell lines, and HuD. RESULTS: Using immunohistochemistry, IgG reactivity against neurons was identified in 13 of 16 POM sera (81%), and 12 of 48 non-POM sera (25%; P<0.001). IgM antineural antibodies were present in 3 of 16 POM sera (19%) and 11 of 48 (23%) non-POM sera. Except for anti-Hu antibodies detected in 10 sera (4 with POM), no other specific reactivities were identified by Western blot analysis of neuronal or of neuroblastoma protein extracts. CONCLUSIONS: We conclude that: 1) patients with neuroblastoma and POM are more likely to harbor antineuronal antibodies than patients without POM; 2) no specific serologic marker of POM was identified, but the frequent presence of antineuronal antibodies suggests that POM is immune-mediated; and 3) anti-Hu antibodies are present in some sera from patients with neuroblastoma, irrespective of the presence of POM.
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Anticuerpos Antineoplásicos/sangre , Autoanticuerpos/sangre , Neuroblastoma/inmunología , Neuronas/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/inmunología , Adulto , Animales , Western Blotting , Cerebelo/inmunología , Corteza Cerebral/inmunología , Preescolar , Femenino , Humanos , Inmunoglobulina G/inmunología , Inmunoglobulina M/inmunología , Inmunohistoquímica , Lactante , Recién Nacido , Masculino , Células de Purkinje/inmunología , RatasRESUMEN
Advances in the treatment of childhood cancer have come at a remarkable pace, but the search for new treatment strategies remains an urgent one. Brain tumors, the most common childhood solid tumor, are second only to leukemias in overall incidence. In order to develop treatments that improve survival while preserving quality of life for children with brain tumors, a better understanding of brain tumor biology is needed. Tremendous progress has been made in the past several years in the understanding of the machinery of the cell division cycle. This chapter reviews recent insights into the mechanisms controlling cell growth in pediatric brain tumors.
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Neoplasias Encefálicas/genética , Regulación Neoplásica de la Expresión Génica/genética , Procesos Neoplásicos , Neoplasias Encefálicas/epidemiología , Neoplasias Encefálicas/terapia , División Celular/genética , Niño , Genes Supresores de Tumor/genética , Humanos , Biología Molecular , Mutación/genética , Síndromes Neoplásicos Hereditarios/genética , Oncogenes/genéticaRESUMEN
PURPOSE: To report a possible relationship between twin pregnancy and cortical visual impairment. METHODS: Three children who had been the products of twin pregnancies were identified as having cortical visual impairment. One child (Patient 2), a dizygotic twin, developed cortical visual impairment after a preterm birth. Two children (Patients 1 and 3), the products of monochorionic pregnancies, developed cortical visual impairment. All children were examined ophthalmologically and neurologically. RESULTS: An evaluation of the gestations of these children indicates that twin pregnancy per se was probably etiologic in the development of cortical visual impairment. In Patient 2, twin pregnancy probably caused preterm birth and resulting cortical visual impairment. In Patients 1 and 3, twin-to-twin transfusion syndrome was the cause of cortical visual impairment. In Patient 1, fetal demise precipitated an acute twin-to-twin transfusion syndrome. CONCLUSIONS: Children who show cortical visual impairment at or shortly after birth should be evaluated for the possibility of twin pregnancy. Twin pregnancy increases the risk of neurologic damage, including damage to the visual cortex, to optic radiations, or both.
Asunto(s)
Enfermedades en Gemelos/etiología , Embarazo Múltiple , Trastornos de la Visión/etiología , Corteza Visual/patología , Preescolar , Femenino , Transfusión Feto-Fetal/complicaciones , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/etiología , Imagen por Resonancia Magnética , Masculino , Embarazo , Gemelos Dicigóticos , Gemelos Monocigóticos , Ultrasonografía Prenatal , Trastornos de la Visión/diagnósticoRESUMEN
From 1978 to 1988, The Cooperative Study of Sickle Cell Disease observed 3,765 patients with a mean follow-up of 5.3 +/- 2.0 years. One thousand seventy-nine surgical procedures were conducted on 717 patients (77% sickle cell anemia [SS], 14% sickle hemoglobin C disease [SC], 5.7% S beta zero thalassemia, 3% S beta zero + thalassemia). Sixty-nine percent had a single procedure, 21% had two procedures, and the remaining 11% had more than two procedures during the study follow-up. The most frequent procedure was abdominal surgery for cholecystectomy or splenectomy (24% of all surgical procedures, N = 258). Of these, 93% received blood transfusion, and there was no association between preoperative hemoglobin A level and complication rates (except reduction in pain crisis). Overall mortality within 30 days of a surgical procedure was 1.1% (12 deaths after 1,079 surgical procedures). Three deaths were considered to be related to the surgical procedure and/or anesthesia (0.3%). No deaths were reported in patients younger than 14 years of age. Sickle cell diseases (SCD)-related complications after surgery were more frequent in SS patients who received regional compared with general anesthesia (adjusted for risk level of the surgical procedure, patient age, and preoperative transfusion status, P = .058). Non-SCD-related postoperative complications were higher in both SS and SC patients who received regional compared with those who received general anesthesia (P =.095). Perioperative transfusion was associated with a lower rate of SCD-related postoperative complications for SS patients undergoing low-risk procedures (P = .006, adjusted for age and type of anesthesia), with crude rated of 12.9% without transfusion compared with 4.8% with transfusion. In SC patients, preoperative transfusion was beneficial for all surgical risk levels (P = .009). Thus, surgical procedures can be performed safely in patients with SCD.
Asunto(s)
Anemia de Células Falciformes , Anestesia , Complicaciones Intraoperatorias/epidemiología , Complicaciones Posoperatorias/epidemiología , Procedimientos Quirúrgicos Operativos/estadística & datos numéricos , Adolescente , Adulto , Factores de Edad , Anemia de Células Falciformes/complicaciones , Anestesia/efectos adversos , Anestesia de Conducción/efectos adversos , Anestesia General/efectos adversos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Enfermedad de la Hemoglobina C/complicaciones , Humanos , Lactante , Recién Nacido , Complicaciones Intraoperatorias/etiología , Complicaciones Intraoperatorias/prevención & control , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/prevención & control , Estudios Retrospectivos , Riesgo , Talasemia/complicaciones , Resultado del Tratamiento , Estados Unidos/epidemiologíaRESUMEN
Serious invasive bacterial infections, particularly those due to Streptococcus pneumoniae and Hemophilus influenzae, are a well-known complication in patients with sickle cell disease. Early penicillin prophylaxis has been shown to prevent these infections and also to improve survival. This article describes a child with sickle cell anemia who, while on penicillin prophylaxis, developed a group A streptococcal bacteremia, a pathogen not commonly associated with bacteremia in sickle cell disease.
Asunto(s)
Anemia de Células Falciformes/complicaciones , Bacteriemia/etiología , Penicilinas/uso terapéutico , Infecciones Estreptocócicas/etiología , Streptococcus pyogenes , Bacteriemia/prevención & control , Humanos , Lactante , MasculinoRESUMEN
We retrospectively examined the medical and autopsy records of seven previously unpublished cases of fatal pneumococcal septicemia in children with hemoglobin SC disease. The earliest death occurred in a 1-year-old child who had congenital heart disease with cyanosis; the other children were aged 3 1/2 to 15 years. Only one child had received pneumococcal vaccine or prophylactic penicillin therapy. All seven children had an acute febrile illness and rapid clinical deterioration despite parenterally administered antibiotic therapy and intensive medical support. Erythrocyte pit counts in two patients were 40.3% and 41.7%, respectively (normal, < or = 3.6%). Autopsy data from five cases showed marked splenic congestion without infarction in five, splenomegaly in four, and bilateral adrenal hemorrhage in three. These cases illustrate that functional asplenia predisposes some children with hemoglobin SC disease to the development of fatal septicemia after the age of 3 years. We conclude that pneumococcal vaccine should be administered to all children with hemoglobin SC disease and that acute febrile illnesses should be investigated promptly for the possibility of septicemia. The routine use of prophylactic penicillin therapy in infants and children with hemoglobin SC disease remains controversial.
Asunto(s)
Enfermedad de la Hemoglobina SC/complicaciones , Infecciones Neumocócicas/etiología , Sepsis/etiología , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios RetrospectivosRESUMEN
Nasopharyngeal carcinoma (NPC) in childhood occurs so infrequently that it is not suspected in affected children until the disease has been present for a long time and local spreading has occurred. The survival rates are therefore quite poor. Six children with NPC are described. A massive local lymph node spread simulating lymphoma was present in half of the patients; in the other half the disease was more subtle, presenting with epistaxis and CNS involvement. If an evaluation of the nasopharynx were part of the initial physical examination in children, the diagnosis of NPC would be made earlier and survival rates would improve.