RESUMEN

In children, treatment regimen for high-grade gliomas (HGG) and diffuse intrinsic pontine gliomas (DIPG) are generally not stratified according to disease stage. The hypothesis was that secondary disseminating disease (SDD) in children with HGG is related to an even worse outcome. Description of SDD pattern was performed. In total, 270 children with newly diagnosed HGG or DIPG were eligible for retrospective analysis of SDD. Medical and computer records of these patients were reviewed for demographic characteristics, sites of dissemination, prognostic variables. Forty-six (17%) of the 270 patients had developed SDD. The median time to SDD was 8.2 months. The median overall survival (OS) after dissemination was 3.2 months. The SDD was located parenchymal in the supratentorial (34.8%), infratentorial (6.5%), supratentorial and infratentorial (19.6%), spinal (10.9%), spinal and cerebral (6.5%) regions of the CNS, or leptomeningeal (21.7%). For HGG patients, the median OS was shorter among patients with SDD than among patients without SDD (1.02 vs 1.41 years, P=0.0495). In the group of patients with SDD, patients with cerebrospinal fluid dissemination had a worse outcome compared with patients with parenchymal metastases. Summarising, SDD is a negative prognostic factor for patients with HGG outside the pons. Treatment stratification should be considered.

Asunto(s)

Neoplasias Encefálicas/patología , Neoplasias del Tronco Encefálico/patología , Glioma/patología , Puente , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/terapia , Neoplasias del Tronco Encefálico/cirugía , Neoplasias del Tronco Encefálico/terapia , Neoplasias Cerebelosas/diagnóstico , Neoplasias Cerebelosas/secundario , Niño , Preescolar , Terapia Combinada , Ciclofosfamida/administración & dosificación , Ciclofosfamida/análogos & derivados , Etopósido/administración & dosificación , Femenino , Glioblastoma/diagnóstico , Glioblastoma/secundario , Glioma/terapia , Humanos , Lactante , Estimación de Kaplan-Meier , Masculino , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/secundario , Radioterapia , Estudios Retrospectivos , Resultado del Tratamiento , Vincristina/administración & dosificación

RESUMEN

BACKGROUND AND PURPOSE: We sought to compare different antithrombotic secondary treatments (mainly medium-dose aspirin with low-dose low-molecular-weight heparin [LMWH]) in pediatric patients with a first ischemic stroke onset with regard to the risk of stroke recurrence. METHODS: The population comprised 135 consecutively recruited children aged >/=6 months to

Asunto(s)

Aspirina/uso terapéutico , Isquemia Encefálica/tratamiento farmacológico , Fibrinolíticos/uso terapéutico , Heparina de Bajo-Peso-Molecular/uso terapéutico , Accidente Cerebrovascular/tratamiento farmacológico , Adolescente , Aspirina/efectos adversos , Niño , Preescolar , Fibrinolíticos/efectos adversos , Estudios de Seguimiento , Heparina de Bajo-Peso-Molecular/administración & dosificación , Heparina de Bajo-Peso-Molecular/efectos adversos , Humanos , Lactante , Recurrencia , Factores de Riesgo , Accidente Cerebrovascular/clasificación , Accidente Cerebrovascular/mortalidad , Factores de Tiempo

RESUMEN

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

Asunto(s)

Síndrome de Cockayne/genética , Examen Neurológico , Adolescente , Encéfalo/patología , Niño , Preescolar , Síndrome de Cockayne/diagnóstico , Reparación del ADN/genética , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Vaina de Mielina/patología , Tomografía Computarizada por Rayos X

RESUMEN

We studied 23 pediatric high-grade astrocytomas by comparative genomic hybridization. Chromosomal imbalances were found in 10 of 10 anaplastic astrocytomas and 11 of 13 glioblastomas and consisted of +1q (43%), +3q (26%), +1p, +2q, +5q (22%), -22q (34%), -6q, -10q (30%), -9q, -11q, -13q, -16q, and -17p (22%). Anaplastic astrocytomas frequently showed +5q (40%), +1q (30%), -22q (50%), -6q, -9q (40%), and -12q (30%); glioblastomas +1q (54%), +3q (38%), +2q, +17q (23%), -6q, -8q, -10q, -13q, and -17p (31%). Minimal common regions mapped to +1q21-41, +3q27-qter, +2q31-32, +5q14-22, -22q12-qter, -10q23-25, -6q25-qter, -9q34.2, -11q14-22, -16q22-qter, and -17p. High-level gains were located on 1q (7 cases), 2q, 7q (4 cases), 3q (3 cases), 9, 17q (2 cases), 4q, 8q, 18, and 20q (1 case). A significantly shorter survival was found for anaplastic astrocytomas showing +1q (P: < 0.05), MIB-1 proliferation index >25% (P: < 0.001) and glioblastomas (P: < 0.05). Compared with adult cases, +1p, +2q, and +21q as well as -6q, -11q, and -16q were more frequent in pediatric malignant astrocytomas. Among the latter +5q, -6q, -9q, -12q, and -22q were characteristic for pediatric anaplastic astrocytomas and +1q, +3q, +16p, -8q, and -17p for pediatric glioblastomas. Our results show that chromosomal aberrations differ between pediatric anaplastic astrocytomas and glioblastomas as well as between pediatric and adult high-grade astrocytomas, supporting the notion of a different genetic pathway. Furthermore, gains of chromosomal material on 1q might be correlated with a worse prognosis in pediatric anaplastic astrocytomas.

Asunto(s)

Astrocitoma/genética , Neoplasias Encefálicas/genética , Aberraciones Cromosómicas , Adolescente , Astrocitoma/metabolismo , Astrocitoma/patología , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patología , División Celular , Niño , Preescolar , Femenino , Dosificación de Gen , Glioblastoma/genética , Humanos , Lactante , Antígeno Ki-67/metabolismo , Masculino , Hibridación de Ácido Nucleico , Análisis de Supervivencia

RESUMEN

Despite a favourable prognosis, pilocytic astrocytomas may exhibit signs of malignancy on various neuroimaging modalities. This retrospective analysis was conducted to determine whether scintigraphic features of malignancy are also found on single-photon emission tomography (SPET) using L-3-[123I]iodo-alpha-methyl tyrosine (IMT) as a tracer. Twenty patients with pilocytic astrocytomas were retrospectively selected from a large series of patients referred for the evaluation of primary or recurrent brain tumours. IMT SPET was performed in 16 patients, positron emission tomography (PET) using 2-[18F]fluoro-2-deoxy-D-glucose (FDG) was available in 10 of the patients and SPET using technetium-99m tetrofosmin or thallium-201 had been performed in 11. Image analysis was performed using standard protocols to determine how many patients exceeded the respective thresholds of malignancy. Features of malignancy were found in 7/16 IMT SPET studies, in 7/10 FDG PET studies and in 7/11 of the residual SPET investigations. A significant correlation of tumour size and IMT uptake in primary pilocytic astrocytomas indicated partial volume effects to partly account for the differential uptake behaviour (n = 10, r = 0.87, P < 0.05). Differences in IMT uptake in primaries (1.7 +/- 0.6, n = 10) and in recurrent tumours (2.3 +/- 0.7, n = 6) did not attain statistical significance. IMT SPET results indicative of malignancy are regularly found in pilocytic astrocytomas, despite their good prognosis. No uptake may be detected in largely cystic or in small tumours.

Asunto(s)

Astrocitoma/diagnóstico por imagen , Neoplasias Encefálicas/diagnóstico por imagen , Metiltirosinas , Radiofármacos , Adolescente , Adulto , Niño , Preescolar , Femenino , Fluorodesoxiglucosa F18 , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Metiltirosinas/farmacocinética , Persona de Mediana Edad , Compuestos Organofosforados , Compuestos de Organotecnecio , Radiofármacos/farmacocinética , Estudios Retrospectivos , Tomografía Computarizada de Emisión , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Rayos X

RESUMEN

OBJECTIVES: To investigate the relationship between an insertion/deletion (4G/5G) polymorphism of the plasminogen activator inhibitor (PAI)-1 gene and childhood patients with a past history of ischemic stroke. METHODS: The PAI-1 4G/4G genotype and the coinheritance with lipoprotein (Lp) (a) levels, the factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, and the methylene-tetrahydrofolate reductase (MTHFR) T677T genotype were studied in 198 Caucasian children with stroke and 951 controls (same age, sex and ethnical distribution). In a randomly selected subgroup of patients/controls (n=60) PAI-I activities have been investigated. RESULTS: The distribution of the 4G/5G genotypes was no different in childhood stroke patients and controls, with a 4G allele frequency of 55.8% in patients compared with 53.8% in control subjects (P=0.49). The 4G/4G genotype compared with the remaining genotypes was present in 43 cases and 167 (17.6% vs. 21.7%; OR/CI: 1.30/0.89-1.98; P=0.3). PAI-1 activity was significantly elevated (P < 0.001) in the patient group. CONCLUSIONS: Data presented here suggest that the 4G/4G genotype is not a major risk factor in the aetiology of childhood ischemic stroke.

Asunto(s)

Isquemia Encefálica/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético , Regiones Promotoras Genéticas/genética , Trombofilia/genética , Regiones no Traducidas 3'/genética , Resistencia a la Proteína C Activada/epidemiología , Resistencia a la Proteína C Activada/genética , Adolescente , Edad de Inicio , Isquemia Encefálica/epidemiología , Niño , Preescolar , Factor V/análisis , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Alemania/epidemiología , Humanos , Lactante , Lipoproteína(a)/análisis , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2) , Mutagénesis Insercional , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Mutación Puntual , Estudios Prospectivos , Protrombina/genética , Factores de Riesgo , Eliminación de Secuencia , Trombofilia/complicaciones , Población Blanca/genética

RESUMEN

BACKGROUND AND PURPOSE: The present multicenter case-control study was prospectively designed to assess the extent to which single and combined clotting factor abnormalities influence the onset of symptomatic ischemic stroke in full-term neonates. METHODS: Lipoprotein (Lp)(a); the factor V (FV) G1691A mutation; the prothrombin (PT) G20210A variant; the methylenetetrahydrofolate reductase (MTHFR) T677T genotype; antithrombin; protein C; protein S; and anticardiolipin antibodies (ACAs) were investigated in 91 consecutively recruited neonatal stroke patients and 182 age- and sex-matched healthy controls. RESULTS: Sixty-two of 91 stroke patients (68.1%) had at least 1 prothrombotic risk factor compared with 44 control subjects (24.2%) (odds ratio [OR]/95% confidence interval [CI], 6.70/3.84 to 11.67). An increased Lp(a) level (>30 mg/dL) was found in 20 patients and 10 controls (OR/95% CI, 4.84/2. 16 to 10.86); FV G1691A was present in 17 patients and 10 controls (OR/95% CI, 3.95/1.72 to 9.0); the PT G20210A variant was detected in 4 patients and 4 controls (OR/95% CI, 2.04/0.49 to 8.3); the MTHFR TT677 genotype was found in 15 patients and 20 controls (OR/95% CI, 1.59/0.77 to 3.29); and protein C type I deficiency was found in 6 neonates. Neither antithrombin deficiency nor protein S deficiency was found in the neonatal patients studied. Acquired IgG ACAs were found in 3 cases. Additional triggering factors, ie, asphyxia, septicemia, maternal diabetes, and perinatally acquired renal venous thrombosis, were reported in 54.0% of patients. CONCLUSIONS: Besides acquired triggering factors, the data presented here suggest that genetic prothrombotic risk factors play a role in symptomatic neonatal stroke.

Asunto(s)

Trastornos de la Coagulación Sanguínea/genética , Isquemia Encefálica/genética , Protrombina/genética , Accidente Cerebrovascular/genética , Apnea/complicaciones , Trastornos de la Coagulación Sanguínea/sangre , Trastornos de la Coagulación Sanguínea/diagnóstico , Isquemia Encefálica/sangre , Isquemia Encefálica/diagnóstico , Estudios de Casos y Controles , Trastornos Cerebrovasculares/sangre , Trastornos Cerebrovasculares/diagnóstico , Trastornos Cerebrovasculares/genética , Factor V/genética , Factor V/metabolismo , Femenino , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas , Humanos , Recién Nacido , Lipoproteína(a)/sangre , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2) , Hipotonía Muscular/complicaciones , Oportunidad Relativa , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/sangre , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Estudios Prospectivos , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/diagnóstico , Deficiencia de Proteína C/genética , Protrombina/metabolismo , Factores de Riesgo , Convulsiones/complicaciones , Accidente Cerebrovascular/sangre , Accidente Cerebrovascular/diagnóstico , Trombosis/sangre , Trombosis/diagnóstico , Trombosis/genética

RESUMEN

Ischemic stroke is a rare event in childhood. In approximately one third of cases no obvious underlying cause or disorder can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for spontaneous ischemic stroke in children. One hundred forty-eight Caucasian infants and children (aged 0.5 to 16 years) with stroke and 296 age-matched controls from the same geographic areas as the patients were analyzed for increased lipoprotein (a) [Lp(a)] levels >30 mg/dL; for the presence of the factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, and the TT677 genotype of methylenetetrahydrofolate reductase (MTHFR); and deficiencies of protein C, protein S, and antithrombin. The following frequencies (patients v controls), odds ratios (ORs), and confidence intervals (CIs) of single risk factors were found: Lp(a) >30 mg/dL (26.4% v 4.7%; OR/CI, 7.2/3.8 to 13.8; P <.0001), FV G1691A (20.2% v 4%; OR/CI, 6/2.97 to 12.1; P <.0001), protein C deficiency (6% v 0.67%; OR/CI, 9.5/2 to 44.6; P =.001), PT G20210A (6% v 1.3%; OR/CI, 4.7/1.4 to 15.6; P =.01), and the MTHFR TT677 genotype (23.6% v 10.4%; OR/CI, 2.4/1.53 to 4.5; P <.0001). A combination of the heterozygous FV G1691A mutation with increased Lp(a) (n = 11) or the MTHFR TT677 genotype (n = 5) was found in 10. 8% of cases, but only 0.3% of controls (OR/CI, 35.75/4.7 to 272; P <. 0001). Increased Lp (a) levels, the FV G1691A mutation, protein C deficiency, the prothrombin G20210A variant, and the MTHFR TT677 are important risk factors for spontaneous ischemic stroke in childhood.

Asunto(s)

Factor V/genética , Lipoproteína(a)/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Polimorfismo Genético , Protrombina/genética , Accidente Cerebrovascular/genética , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2) , Factores de Riesgo , Accidente Cerebrovascular/etiología

RESUMEN

UNLABELLED: Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multicentre survey focusing on patients with a cardiac disease. 38 of 162 white infants and children (neonate-18 years) with ischaemic stroke were suffering from a cardiac disorder. An age-matched group of 100 children from the same geographic areas as the patients served as controls. Patients and controls were analysed for increased lipoprotein (a) levels > 30 mg/dl, for the presence of the factor V (FV) G1691A mutation, the prothrombin (PT) G20210 A variant, and deficiencies of protein C, protein S, and antithrombin. The following frequencies (patients vs. controls), odds ratios (OR) and confidence intervals (CI) of single risk factors were found: Lp(a) > 30 mg/dl (18.4% vs. 5%; OR/CI: 4.3/1.3-14.4; p = 0.03), FV G1691A (13.2% vs. 4%; OR/CI 3.63/0.92-14.3; p = 0.12) protein C type I deficiency (15.8% vs. 1%; OR/CI: 18.5/2.15-16.0; p = 0.0017), anticardiolipin antibodies (10.5% vs. 0%; p = 0.0051). No protein S or antithrombin deficiency was found. Combinations of haemostatic disorders were found in 10.5% of cases but in none of the controls (Fisher 0.005). CONCLUSION: While FV G1691A and prothrombin G20210 A mutations show no significant data in our study, lipoprotein (a) levels >30 mg/dl protein C deficiency, anticardiolipin antibodies and combined prothrombotic disorders seem to be important risk factors for manifestation of ischaemic strokes in children with underlying cardiac disorders.

Asunto(s)

Infarto Encefálico/genética , Cardiopatías/complicaciones , Trombofilia/genética , Adolescente , Edad de Inicio , Anticuerpos Anticardiolipina/sangre , Infarto Encefálico/sangre , Infarto Encefálico/epidemiología , Infarto Encefálico/etiología , Estudios de Casos y Controles , Niño , Preescolar , Factor V/genética , Femenino , Predisposición Genética a la Enfermedad , Alemania/epidemiología , Humanos , Lactante , Recién Nacido , Lipoproteína(a)/sangre , Masculino , Oportunidad Relativa , Prevalencia , Deficiencia de Proteína C/epidemiología , Protrombina/genética , Factores de Riesgo , Estadísticas no Paramétricas , Trombofilia/sangre , Trombofilia/epidemiología

RESUMEN

Chemotherapeutic or radiotherapeutic regimens are being increasingly used in low grade glioma of childhood. These protocols require methods to monitor tumor activity. We report our experience in eleven patients. The tumors were localized in the optic pathway (3), cerebral cortex (4) and thalamus/hypothalamus (4). Histological diagnoses included low grade astrocytoma (6), gliofibroma (1) and ganglioglioma (2). Two children with neurofibromatosis type 1 (NF-1) and typical optical tumors were not biopsied. 13 episodes of progression were noted including 3 altered diagnoses. This was evident from clinical symptoms in 11/13 episodes, computed tomography (CT) or magnetic resonance imaging (MRI) in 10/13 situations, iodine-123-alpha-methyltyrosine (123I-IMT) single-photon emission computed tomography (SPECT) in 10/10 situations, fluorine-18 fluorodesoxyglucose (18F-FDG) positron emission tomography (PET) in 0/3 and thallium-201 (201Tl) SPECT in 1/1. Seven responses to chemotherapy were recorded. Clinical symptoms indicated this in 7/7 situations, MRI in 5/7, 123I-IMT SPECT in 1/2 and 201Tl SPECT in 1/1. These data suggest that 123I-IMT SPECT is a valuable addition to low grade glioma diagnostic and stress the need for a prospective study.

Asunto(s)

Neoplasias Encefálicas/diagnóstico , Diagnóstico por Imagen , Glioma/diagnóstico , Neoplasias del Nervio Óptico/diagnóstico , Adolescente , Encéfalo/patología , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/terapia , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Glioma/patología , Glioma/terapia , Humanos , Lactante , Masculino , Neoplasias del Nervio Óptico/patología , Neoplasias del Nervio Óptico/terapia

RESUMEN

AIMS: To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS: The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24). RESULTS: Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n = 3); protein C deficiency type I (n = 6); increased Lp (a) (n = 3); and protein S type I deficiency (n = 1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one. CONCLUSIONS: The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.

Asunto(s)

Encefalopatías/embriología , Encefalopatías/genética , Quistes/embriología , Quistes/genética , Factor V/genética , Mutación Puntual , Trombofilia/genética , Adolescente , Encefalopatías/sangre , Niño , Preescolar , Quistes/sangre , Femenino , Humanos , Lactante , Recién Nacido , Lipoproteína(a)/sangre , Imagen por Resonancia Magnética , Masculino , Deficiencia de Proteína C , Deficiencia de Proteína S/genética , Estudios Retrospectivos , Factores de Riesgo

RESUMEN

Arterio-venous malformations (AVM) of the CNS are considered uncommon lesions in childhood, but is a main cause for subarachnoid haemorrhage (SAH) of children. We report a case of a 14-year-old girl with an AVM localized in the cervical spine: after an acute event with SAH she shows the clinical features of a cervical myelopathy-syndrome. MRI and selective angiography show an AVM, originating from the right vertebral artery. Patients with AVM have a higher incidence of recurrent bleeding with SAH, hematomyelia or infarction and even cord compression. This grave sequel makes it necessary to treat AVM e.g. with embolization.

Asunto(s)

Malformaciones Arteriovenosas/diagnóstico , Médula Espinal/irrigación sanguínea , Adolescente , Angiografía , Malformaciones Arteriovenosas/terapia , Embolización Terapéutica , Femenino , Humanos , Imagen por Resonancia Magnética , Examen Neurológico , Compresión de la Médula Espinal/diagnóstico , Compresión de la Médula Espinal/terapia , Hemorragia Subaracnoidea/diagnóstico , Hemorragia Subaracnoidea/terapia , Arteria Vertebral/anomalías , Arteria Vertebral/diagnóstico por imagen

RESUMEN

Dahlbäck et al. recently described in vitro resistance to the anticoagulant response of activated protein C (APC), in the majority of cases associated with the Arg506 to Gln point mutation in the factor V gene in thrombophilic patients. To determine to what extent this common gene mutation affects the risk of childhood stroke, its occurrence was prospectively investigated in a population of children with ischaemic stroke. Over a 2-year period the Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) [Lp(a)] were measured in 14 infants and children with acute ischaemic stroke. Heterozygous factor V Leiden mutation (n = 4), homozygous factor V Leiden mutation (n = 1), protein C deficiency type I (n = 3) and increased Lp(a) (n = 2) were diagnosed in the children investigated. Seven of 14 patients showed an underlying disease and additionally risk factors were present in nine of 14 children. Data of this study indicate that deficiencies in the protein C anticoagulant pathway play an important role in the aetiology of childhood stroke. However, additional triggering factors may promote early manifestation of thromboembolism in children with inherited defects of clotting inhibitors.

Asunto(s)

Arginina/genética , Isquemia Encefálica/genética , Factor V/genética , Glutamina/genética , Mutación Puntual , Adolescente , Arteriopatías Oclusivas/genética , Isquemia Encefálica/sangre , Isquemia Encefálica/fisiopatología , Niño , Preescolar , Activación Enzimática , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Prospectivos , Proteína C/metabolismo , Factores de Riesgo , Tromboembolia/genética

RESUMEN

Two 6-year-old patients with clinical signs of leukodystrophy had no nosological diagnoses in vivo. Neuropathological studies revealed scavenger cells to be clustered in perivascular regions of the demyelinated brains. Histochemical and ultrastructural details of the non-metachromatic storage macrophages suggested lipid storage and prompted a biochemical analysis of cerebral tissue. The detection of increased amounts of very long chain fatty acids in the cholesterol ester fraction from formalin tissue in one patient was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the marked reduction in beta-galactocerebrosidase activity in a frozen brain sample of the second patient indicate Krabbe disease. The diagnostic potential of post-mortem studies in rare leukodystrophies is addressed.

Asunto(s)

Adrenoleucodistrofia/diagnóstico , Leucodistrofia de Células Globoides/diagnóstico , Adrenoleucodistrofia/fisiopatología , Astrocitos , Niño , Preescolar , Cuerpo Calloso/fisiopatología , Cuerpo Calloso/ultraestructura , Femenino , Galactosilceramidasa/fisiología , Humanos , Leucodistrofia de Células Globoides/fisiopatología , Macrófagos , Masculino , Microscopía Electrónica

RESUMEN

Transcranial magnetic stimulation (TMS) was investigated in 24 healthy children between the ages of 3 and 14 years in order to study late muscular responses (as they are observed in adults) as a function of age and maturation. Muscular responses were recorded bilaterally from the biceps muscle. An early muscular response and several late phenomena can be elicited in children. (i) An inhibitory period following the primary response could preferentially be recorded contralaterally. (ii) During facilitation, a late response was recorded bilaterally. (iii) Without facilitation (during 'relaxation'), late responses were recorded bilaterally with a latency of between 50-400 ms. The latency of the latter responses depended on the age of the children, and may therefore be useful in monitoring the maturation of the central motor system in infants. Due to small side-to-side differences, the inhibitory period may be of diagnostic value in children for detection of unilateral dysfunction of the central nervous system.

Asunto(s)

Corteza Motora/fisiología , Músculo Esquelético/fisiología , Estimulación Magnética Transcraneal , Adolescente , Envejecimiento , Niño , Preescolar , Electromiografía , Femenino , Humanos , Masculino , Corteza Motora/efectos de la radiación , Músculo Esquelético/efectos de la radiación , Valores de Referencia , Factores de Tiempo

RESUMEN

Substantial evidence indicates that genetic factors may have a role in the etiology of alopecia areata (AA). Most studies, however, provide only general information on the familial incidence but fail to specify family relationships. We therefore obtained information on the incidence of AA in first degree relatives of 348 severely affected patients. In 7% one of the parents was affected. Among the siblings of the patients 3% had developed AA, while AA was present in 2% of the children. Taking into account the age of the children, their lifetime risk was calculated to approach 6%. However, a severe type of AA is to be expected only in about 2% of the children. The degree of involvement observed in the patients did not influence the frequency and type of AA present in their first degree relatives.

Asunto(s)

Alopecia Areata/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Factores de Riesgo