Pacientes con neurofibromatosis tipo 1: perfil cognitivo y trastornos en funciones cerebrales superiores en la edad pediátrica / Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1

Introducción: La neurofibromatosis tipo 1 (NF1) es un síndrome neurocutáneo frecuente que en muchos casos se asocia a dificultades cognitivas específicas que habitualmente no son tenidas en cuenta en el seguimiento médico de estos pacientes. Objetivo: Trazar el perfil cognitivo de pacientes con NF1 detectando trastornos en funciones superiores asociados al mismo. Identificar motivos de consulta de pacientes pediátricos con NF1 en relación con su desempeño escolar. Métodos: Trabajo descriptivo transversal. Se evaluó neuropsicológicamente a 24 pacientes con NF1 con edades comprendidas entre los 5 y los 16 años de edad. Resultados: Los motivos de consulta más frecuentes fueron: problemas atencionales (58,33%), aprendizaje (25%), coordinación motora (25%) y lenguaje (0,8%). Si bien el estudio reveló que el 96% de los pacientes tenía compromiso en al menos una de las áreas evaluadas, solo el 83,34% de los padres las refirieron. El 58,33% presentó trastorno por déficit de atención con hiperactividad (TDAH), el 33,33% trastorno de aprendizaje no verbal (TANV), el 20,83% dificultades en aspectos expresivos del lenguaje, el 8,33% coeficiente intelectual (CI) limítrofe, el 4,16% retraso mental y el 4,16% no mostró dificultades. Conclusiones: Existe alta frecuencia de trastornos en funciones superiores en niños con NF1. Aunque muchos padres detectan dichos trastornos, se ha observado que otros son subestimados. Consideramos conveniente que todos los niños con NF1 cuenten con una evaluación neuropsicológica a fin de poder detectar dificultades existentes en cada caso y así poder elaborar una estrategia de rehabilitación cognitiva precoz y efectiva

Introduction: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. Objective: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. Methods: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. Results: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. Conclusion: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment

[Transient reading disorders associated with interictal epileptiform paroxysmal discharges in invasive videocorticography]. / Trastornos transitorios de la lectura asociados a descargas paroxisticas epileptiformes interictales en videocorticografia invasiva.

INTRODUCTION: Epilepsy in pediatric age are frequently associated with cognitive disorders. Different studies correlated the presence of transient cognitive disorders with the presence of interictal epileptiform discharges (IEDs). CASE REPORT: A 23-year-old woman with pharmacoresistant focal epilepsy was evaluated with invasive videoEEG in the context of epilepsy surgery. There were selected 300 periods of 10 seconds duration from the invasive videoEEG, which were classified into two groups. Group 1 showed IEDs restricted to the cortex of the middle frontal gyrus, inferior temporal gyrus, left lateral and medial occipitotemporal gyrus (dominant hemisphere). In group 2, IEDs was observed in the upper and middle frontal gyrus, precentral, the inferior and middle temporal left gyrus. The patient read the same text during the selected peirods. The number of words read in each period was counted. The working memory was evaluated by the inverse digit test. In group 1, the average number of words read was 10.2 (95% CI: 10.04-10.35); in group 2 it was 2.3 (95% CI: 2.12-2.27; t(146) = 94.55; p < 0.0001). In group 1, the average of inverse digits was 4.05 (95% CI: 3.81-4.30); in group 2 it was 2.67 (95% CI: 2.48-2.86; t(33) = 10.34; p < 0.0001). CONCLUSIONS: Our finding allows us to infer that the interference of IEDs in the cortex of the upper and middle frontal gyrus, precentral, middle and lower temporal gyrus of the dominant hemisphere, causes a dysfunction of neural networks involved in reading.

TITLE: Trastornos transitorios de la lectura asociados a descargas paroxisticas epileptiformes interictales en videocorticografia invasiva.Introduccion. La epilepsia en la edad pediatrica se asocia frecuentemente a trastornos cognitivos. Distintos estudios correlacionaron la presencia de trastornos cognitivos transitorios con la presencia de descargas epilepticas interictales (DEI). Caso clinico. Mujer de 23 años, con epilepsia focal farmacorresistente evaluada con videoelectroencefalograma (video-EEG) invasivo en el contexto de cirugia de la epilepsia. Del video-EEG invasivo se seleccionaron 300 epocas de 10 s de duracion, que se clasificaron en dos grupos. El grupo 1 evidencio DEI restringidas a la corteza del giro frontal medio, el giro temporal inferior y los giros occipitotemporales lateral y medial izquierdos (hemisferio dominante). En el grupo 2 se observaron DEI en el giro frontal superior y medio, el giro precentral y los giros temporales medio e inferior izquierdos. La paciente leyo el mismo texto durante las epocas seleccionadas. Se contabilizo el numero de palabras leidas en cada epoca. Se evaluo la memoria de trabajo mediante la prueba de digitos inversos. En el grupo 1, la media de palabras leidas fue de 10,2 (IC 95%: 10,04-10,35); en el grupo 2, de 2,3 (IC 95%: 2,12-2,27; t(146) = 94,55; p < 0,0001). En el grupo 1, la media de digitos inversos fue de 4,05 (IC 95%: 3,81-4,30); en el grupo 2, de 2,67 (IC 95%: 2,48-2,86; t(33) = 10,34; p < 0,0001). Conclusion. El hallazgo permite inferir que la interferencia de las DEI en la corteza del giro frontal superior y medio, el giro precentral, y los giros temporales medio e inferior del hemisferio dominante provoca una disfuncion de las redes neuronales implicadas en los mecanismos de la lectura.

Cognitive profile and disorders affecting higher brain functions in paediatric patients with neurofibromatosis type 1. / Pacientes con neurofibromatosis tipo 1: perfil cognitivo y trastornos en funciones cerebrales superiores en la edad pediátrica.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. METHODS: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. RESULTS: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. CONCLUSION: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment.

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

BACKGROUND: Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in PEX genes, which encode proteins called peroxins, involved in the assembly of the peroxisome. Patient Description: We herein report a patient who is currently 9 years old and who is compound heterozygous for two novel mutations in the PEX3 gene. RESULTS: Mild biochemical abnormalities of the peroxisomal parameters suggested a Zellweger spectrum defect in the patient. Sequence analysis of the PEX3 gene identified two novel heterozygous, pathogenic mutations. CONCLUSION: Mutations in PEX3 usually result in a severe, early lethal phenotype. We report a patient compound heterozygous for two novel mutations in the PEX3 gene, who is less affected than previously reported patients with a defect in the PEX3 gene. Our findings indicate that PEX3 defects may cause a disease spectrum similar as previously observed for other PEX gene defects.

Weekly docetaxel as II line therapy in non-small cell lung cancer: an interim analysis of a phase II study.

To evaluate the efficacy and toxicity of weekly docetaxel (D) as II line treatment in non-small cell lung cancer (NSCLC), in November 1999, we started a phase II study on advanced (stages IIIB-IV) NSCLC patients pre-treated with at least one platinum-based chemotherapy regimen with or without radiotherapy. The schedule consisted of D 40 mg/m(2), weekly for 6 weeks, followed by a rest period of 2 weeks, for three cycles or until progression. Eligibility criteria were: histopathologic diagnosis of NSCLC; age

[Perforated duodenal diverticulum: report of a case]. / Diverticolo duodenale perforato: descrizione di un caso.

After the colon, the duodenum is the most common site of diverticula. Duodenal diverticula can be divided into two types: intraluminal or extraluminal. The latter are more frequent, with a prevalence ranging from 0.6 to 27% in relation to the diagnostic methods utilized. Females are more often affected than males. About 70-75% of extraluminal duodenal diverticula are located in a circular area centred around the ampulla of Vater within a radius of 2-3 cm; these are defined as periampullary or juxtapapillary. Perforation is the rarest type of complication and can simulate different clinical conditions. CT plays a fundamental role in diagnosis also in relation to the different diverticular topography. Perforation is an indication for emergency surgery. The authors describe the clinical case of a duodenal diverticulum containing the outlet of the papilla, complicated by perforation; CT showed retroduodenal fluid and free air. Emergency surgery with an external biliary drainage, naso-biliary probe, and a diverticulo-jejunostomy on a Roux-en-Y defunctionalised loop, resolved the condition.