RESUMEN
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.
Asunto(s)
Trastornos Heredodegenerativos del Sistema Nervioso/enzimología , Trastornos Heredodegenerativos del Sistema Nervioso/genética , Ribonucleasa H/genética , Secuencia de Aminoácidos , Secuencia de Bases , ADN/genética , Encefalitis Viral/congénito , Femenino , Humanos , Masculino , Modelos Moleculares , Datos de Secuencia Molecular , Mutación , Estructura Cuaternaria de Proteína , Subunidades de Proteína , Ribonucleasa H/química , Ribonucleasa H/metabolismo , SíndromeRESUMEN
The best method of diatom identification in animal and human tissues is still an important discussion topic, in terms of effectiveness and reliability. In this technical note, authors propose a new method of extraction of diatoms using heated hydrogen peroxide from animal and human tissue samples. This method has been compared with the traditional method of digestion with acids. The results of the comparison show that heated hydrogen peroxide extraction is more efficient in terms of reduction of sediment, extraction of the material and preservation of diatoms proving to be a viable alternative to conventional approaches with acids in terms of costs and operator safety.
Asunto(s)
Diatomeas , Animales , Ahogamiento , Calor , Humanos , Peróxido de Hidrógeno , Pulmón , Reproducibilidad de los ResultadosRESUMEN
Tourette syndrome (TS) is a neuropsychiatric disorder in which dopaminergic dysfunction and immune system abnormalities seem to coexist. Using real-time PCR, we determined mRNA expression of dopamine receptors (DRs) D1-5 in peripheral blood lymphocytes (PBLs) from 15 TS patients and 15 sex- and age-matched healthy controls (HCs). DRD5 mRNA levels in cells from TS were higher than in cells from HCs. In TS patients with obsessive-compulsive disorder, DRD5 mRNA levels in PBLs showed a highly positive correlation with the severity of compulsive symptoms. DRD5 mRNA upregulation in PBLs from TS patients may represent a peripheral marker of dopaminergic dysfunction and supports the involvement of the immune system in TS.
Asunto(s)
Linfocitos/metabolismo , Receptores de Dopamina D5/metabolismo , Síndrome de Tourette/metabolismo , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/sangre , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Niño , Grupos Control , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Masculino , Trastorno Obsesivo Compulsivo/sangre , Trastorno Obsesivo Compulsivo/metabolismo , Reacción en Cadena de la Polimerasa/estadística & datos numéricos , ARN Mensajero/metabolismo , Receptores Dopaminérgicos/metabolismo , Índice de Severidad de la Enfermedad , Síndrome de Tourette/sangre , Síndrome de Tourette/diagnóstico , Regulación hacia ArribaRESUMEN
This study documents the age-dependent development of visual object recognition abilities in 115 children aged 6 to 11 years, using a battery of neuropsychological tests based on Marrs model (Efron test, Warringtons Figure-Ground Test, Street Completion Test, Poppelreuter-Ghent Test, a selection of stimuli from the Birmingham Object Recognition Battery, a series of color photographs of objects presented from unusual perspectives or illuminated in unusual ways). The results suggest a maturation of complex visual perceptual abilities, possibly related to the development of the cerebral processes involved in object recognition, and could be the starting point for future investigations of these skills in impaired populations.
Asunto(s)
Desarrollo Infantil , Pruebas Neuropsicológicas , Reconocimiento Visual de Modelos , Factores de Edad , Aptitud , Niño , Aprendizaje Discriminativo , Femenino , Área de Dependencia-Independencia , Humanos , Imaginación , Masculino , Orientación , Percepción de CercaníaRESUMEN
We report the neuropsychological profile and the pattern of brain activity during reading tasks in a sample of familial dyslexics. We studied our subjects with an in-depth neuropsychological assessment and with functional neuroimaging (fMRI) during word and pseudoword reading and false font string observations (baseline condition). The neuropsychological assessment revealed that familial dyslexia, in both persistent and compensated forms, is often associated with deficits in verbal short-term memory, phonological awareness and automatization abilities. The functional results showed a lack of activation in the posterior areas of the reading network. This study, together with the previously published VBM study (Brambati, S.M., Termine, C., Ruffino, M., Stella, G., Fazio, F., Cappa, S.F. and Perani, D., Regional reductions of gray matter volume in familial dyslexia, Neurology, 63 (2004) 742-5), provides a multiple modality evaluation of familial dyslexia. The neuropsychological assessment showed cognitive deficits associated with dyslexia that persist also in subjects with compensated reading deficit. Both the anatomical and the functional study point out a deficit in the posterior areas of the reading network.
Asunto(s)
Trastornos del Conocimiento/patología , Dislexia/patología , Adolescente , Adulto , Mapeo Encefálico , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/fisiopatología , Dislexia/complicaciones , Dislexia/fisiopatología , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Masculino , Memoria a Corto Plazo/fisiología , Persona de Mediana Edad , Pruebas Neuropsicológicas , Oxígeno/sangre , Conducta Verbal/fisiologíaRESUMEN
Recent years have witnessed an increased interest from pediatric neurologists, neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet (KD) for the management of refractory epilepsies, particularly in children and adolescents. This article summarizes current knowledge on various issues related to its use, as discussed at a recent international workshop. Aspects discussed in some detail include (i) the putative mechanisms responsible for the diet's anticonvulsant effects,based on results of biochemical and neurophysiological studies in experimental models; (ii) consensus and controversies on the modalities of initiation of the diet, and different protocols of implementation; (iii) indications and contraindications; (iv) efficacy data, also in relation to seizure type, syndromic form and patients age; (v) adverse effects; (vi) methodological aspects related to assessment of the diet's clinical effects, and perspectives for future research. Overall, the data reviewed indicate that considerable advances have been made in understanding the modes of action of the diet, its efficacy and tolerability profiles and its potential role in different types of epilepsy. Although clinical studies performed to date have important methodological limitations, including suboptimally characterized patients' populations and an uncontrolled design, a number of innovative, prospective randomized study protocols have been recently proposed and are being implemented. The results of these will hopefully provide much needed high-quality information to better define the role of the diet in the treatment algorithms in different epilepsy syndromes.
Asunto(s)
Grasas de la Dieta/uso terapéutico , Epilepsia/dietoterapia , Cetosis , Adolescente , Niño , Ensayos Clínicos como Asunto , Grasas de la Dieta/efectos adversos , HumanosRESUMEN
PURPOSE: Lafora body disease (LBD) is severe and rapidly worsening progressive myoclonus epilepsy (PME), not treatable with specific therapy. In LBD patients, typical polyglucosan accumulations result from alterations of proteins involved in the regulation of glycogen metabolism. Thus, a ketogenic regimen might reasonably be expected to counteract the disease progression. We set out to assess the feasibility and tolerability of a long-term ketogenic diet (KD) in LBD patients and to make a preliminary evaluation of its effect on the disease course. METHODS: We treated five LBD patients with KD and evaluated the changes in the clinical, neuropsychological and neurophysiological findings over 10-30 months. RESULTS: The KD was well tolerated in all the patients for the first 16 months. Nutritional measures and laboratory findings remained substantially stable. The disease progressed in all the patients, reaching an advanced stage in one. Electrophysiological findings indicated the presence of increased cortical excitability in four patients, paralleling the worsening of the myoclonus. CONCLUSION: KD was unable to stop the disease progression. However, given the considerable heterogeneity of the natural history of LBD, we cannot exclude the possibility that KD has the potential to slow down the disease progression. The application of this nutritional approach should be further evaluated in larger case series.
Asunto(s)
Cetosis , Enfermedad de Lafora/dietoterapia , Adolescente , Encéfalo/patología , Niño , Progresión de la Enfermedad , Femenino , Humanos , Enfermedad de Lafora/complicaciones , Enfermedad de Lafora/patología , Masculino , Trastornos Mentales/etiología , Estado Nutricional , Cooperación del Paciente , Proyectos PilotoRESUMEN
Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse is not true. In fact, this mutation is also responsible for various other syndromes, such as Leigh syndrome, spinocerebellar degeneration, atypical Charcot-Marie-Tooth disease, and multiple truncal lipomas. We describe a child with the A8344G mutation of mitochondrial DNA and an unusual clinical, neuroradiologic, and biochemical phenotype, characterized by early-onset, nonprogressive cerebellar ataxia, and subclinical myoclonias in association with bilateral putaminal necrosis on magnetic resonance imaging and a reduction in complex V activity. Our case confirms the existence of a relationship between alteration in adenosine triphosphatase activity and basal ganglia involvement. We recommend that the possibility of a mitochondrial pathology should always be taken into consideration in the presence of bilateral symmetric lesions of the basal ganglia, even when the typical clinical picture is lacking. (J Child Neurol 2006;21:79-82).
Asunto(s)
ADN Mitocondrial , Síndrome MERRF/complicaciones , Síndrome MERRF/genética , Mutación Puntual/genética , Putamen/patología , Niño , Análisis Mutacional de ADN , Diagnóstico Diferencial , Electroencefalografía , Lateralidad Funcional , Humanos , Síndrome MERRF/diagnóstico , Imagen por Resonancia Magnética , Masculino , Necrosis/etiologíaRESUMEN
OBJECTIVE: Few controlled studies have considered, in paediatric subjects, associations between Tourette's syndrome (TS) and psychiatric/behavioural disorders. We conducted a case-control study to verify the reproducibility of the few data published on this topic to date. METHOD: Clinicians' impression (i.e. structured interviews and usual history taking), standardized psychiatric and behavioural rating scales (CBCL, TAI, CDI, CRS-R:L, Y-GTSS, CY-BOCS) were used to investigate these associations in 17 youngsters with TS and in 17 age- and sex-matched controls. RESULTS: The clinician's diagnoses revealed TS alone in 23.5% of the patients (4/17), TS plus attention-deficit/hyperactivity disorder (ADHD) in 11.8% (2/17), TS plus obsessive-compulsive disorder (OCD) in 41.2% (7/17), and TS plus ADHD and OCD in 23.5% (4/17). No control subject presented ADHD and/or OCD. These clinical findings were confirmed by Child Behaviour Check List (CBCL) results. The TS group, compared with the controls, recorded significantly higher CBCL scores in scales relating to the main comorbid conditions. No significant differences emerged on the Children's Depression Inventory or Test Anxiety Inventory. CONCLUSION: TS patients have a high prevalence of psychiatric and behavioural problems compared with controls. The CBCL is a rapid and useful screening-diagnostic instrument for highlighting the main psychiatric and behavioural problems in TS.
Asunto(s)
Psicopatología/métodos , Síndrome de Tourette/psicología , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Estudios de Casos y Controles , Niño , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/psicología , Determinación de la Personalidad/estadística & datos numéricos , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologíaRESUMEN
Botulinum toxin A is widely used for spasticity management in children with cerebral palsy, although outcomes are unpredictable. The aim of this study was to identify criteria for selecting patients most likely to benefit from botulinum toxin A treatment. Fifty-five subjects, aged 2.5 to 18 years, were recruited. The assessment covered measures of spasticity (Modified Ashworth Scale), function (using the Gross Motor Function Measure and the Physician's Rating Scale), selective motor control, static range of motion at the ankle with knee extended and flexed, range of motion of the knee flexors, central and peripheral vision, and cognitive ability. Outcomes at 3 months were compared with baseline values. All of the scales showed significant differences between pre- and postinjection values. Significantly increased Gross Motor Function Measure scores were found in children aged 48 months or under and in those able to walk with support. Greater improvements in selective motor control and Physician's Rating Scale were seen in those with a less severe pattern of paralysis, lower levels of impairment, the ability to walk (with or without support), normal visual acuity, and normal or borderline cognition. We identified factors that mark out patients as most likely to achieve functional gains: young age, hemiplegia or diplegia, slight to moderate disability, walking with support, normal or borderline cognition, and normal or borderline visual acuity.
Asunto(s)
Toxinas Botulínicas Tipo A/uso terapéutico , Parálisis Cerebral/complicaciones , Espasticidad Muscular/tratamiento farmacológico , Espasticidad Muscular/etiología , Fármacos Neuromusculares/uso terapéutico , Adolescente , Factores de Edad , Parálisis Cerebral/rehabilitación , Niño , Preescolar , Cognición , Personas con Discapacidad , Femenino , Hemiplejía , Humanos , Masculino , Destreza Motora , Valor Predictivo de las Pruebas , Pronóstico , Rango del Movimiento Articular , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Agudeza Visual , CaminataRESUMEN
We describe the long-term follow-up of a patient with bilateral striatal necrosis associated with Mycoplasma pneumoniae infection occurred in adolescence. In the literature there are no longitudinal studies of such a rare condition. Our patient, 4 years after the onset of an acute and reversible akinetic-rigid syndrome, showed a severe obsessive-compulsive disorder, cognitive decline, and a neuropsychological profile characterized by signs of deficient executive functioning. The clinical picture that emerged in our patient is suggestive of a frontosubcortical dementia which might be considered a major long-term sequela of the bilateral selective striatal necrosis and consequent dysfunction of frontostriatal connections.
Asunto(s)
Enfermedades de los Ganglios Basales/etiología , Trastornos del Conocimiento/etiología , Cuerpo Estriado/patología , Demencia/etiología , Trastorno Obsesivo Compulsivo/etiología , Neumonía por Mycoplasma/complicaciones , Adolescente , Anticuerpos Antibacterianos/sangre , Anticuerpos Antibacterianos/líquido cefalorraquídeo , Enfermedades de los Ganglios Basales/patología , Enfermedades de los Ganglios Basales/fisiopatología , Edema Encefálico/etiología , Edema Encefálico/patología , Edema Encefálico/fisiopatología , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/fisiopatología , Cuerpo Estriado/fisiopatología , Demencia/diagnóstico , Demencia/fisiopatología , Progresión de la Enfermedad , Estudios de Seguimiento , Lóbulo Frontal/patología , Lóbulo Frontal/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Necrosis , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/fisiopatología , Neumonía por Mycoplasma/diagnóstico , Neumonía por Mycoplasma/tratamiento farmacológico , Enfermedades Raras/diagnóstico , Enfermedades Raras/patología , Enfermedades Raras/fisiopatología , Pruebas SerológicasRESUMEN
Movement disorders are rarely described in association with the "continuous spikes and waves during slow sleep (CSWS)" EEG pattern. We report the case of a young girl affected by an epileptic encephalopathy who, from the age of seven years and four months, has twice presented a movement disorder affecting the right arm, manifesting on awakening and disappearing by early afternoon. Sleep EEG during these periods showed continuous, high-amplitude, diphasic spikes and slow waves over the left hemisphere. Association of clobazam, valproic acid and, on the second occasion, ethosuccimide led to disappearance of the above-described EEG picture and associated motor symptoms. Neurophysiological investigations excluded other possible aetiologies. In view of this, and of the close relationship between the EEG picture and clinical course, we interpret the patient's impairment as "motor neglect" secondary to the continuous electrical activity recorded during sleep over the left hemisphere and involving the associative areas. This electrical activity in sleep, may be regarded as a "functional lesion" whose clinical consequences can be correlated with the site of the abnormalities.[Published with video sequences].
Asunto(s)
Epilepsia/fisiopatología , Trastornos Psicomotores/complicaciones , Sueño/fisiología , Anticonvulsivantes/uso terapéutico , Brazo , Benzodiazepinas/uso terapéutico , Niño , Clobazam , Electroencefalografía , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Etosuximida/uso terapéutico , Femenino , Humanos , Movimiento , Ácido Valproico/uso terapéuticoRESUMEN
We describe a patient presenting with a combination of dental agenesis, agenesis of the distal phalanx of the fifth finger, small, dystrophic toenails, permanent facial erythema, short stature and mild mental retardation. The neuropsychological profile of this patient which was studied in detail and showed a significant discrepancy between verbal and performance IQ. We discuss the differential diagnosis of this case and conclude that our patient's condition could represent a new syndrome.
Asunto(s)
Anomalías Múltiples/diagnóstico , Eritema/patología , Dedos/anomalías , Trastornos del Crecimiento/patología , Anomalías Dentarias/patología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Huesos/anomalías , Niño , Diagnóstico Diferencial , Cara/anomalías , Hormona del Crecimiento/deficiencia , Cardiopatías Congénitas/patología , Humanos , Discapacidad Intelectual/diagnóstico , Cariotipificación , Riñón/anomalías , Riñón/patología , Masculino , Uñas Malformadas , SíndromeRESUMEN
In recent years, it has become common practice, in the treatment of headache, to use alternative methods, both alone and in association with drug therapies. Alternative therapies would appear to be more indicated in certain subjects: patients opposed to pharmacological treatments, those showing low tolerance of drugs or with a history of drug abuse, and those presenting medical contraindications or poor response to certain drugs. Numerous studies of alternative therapies have been published and here we review the literature data on the topic, considering in particular the accuracy of the various study methods in evaluating the effectiveness of the different therapies and their specificity for the different forms of headache. Specialists involved in the assessment and care of headache patients should strive to increase their knowledge of alternative therapies, so as to be better equipped to guide patients towards safe, economical and potentially effective treatments, rather than useless, costly or dangerous ones.
Asunto(s)
Terapias Complementarias/métodos , Cefalea/terapia , Terapia por Acupuntura , Adolescente , Adulto , Aromaterapia , Niño , Humanos , Materia Medica , Terapia Nutricional , Modalidades de Fisioterapia , FitoterapiaRESUMEN
OBJECTIVE: To investigate the clinical features of idiopathic headache with early onset, whose presence is probably underestimated by parents and physicians and the influence of environmental and psychological factors on headache in children. METHODS: We report on a prospective longitudinal evaluation of 35 consecutive children referred to the Neuropsychiatry Departments of the Universities of Varese and Pavia (mean age at the first observation: 4 years and 7 months, range: 12 months-6 years; mean age at onset: 4 years and 2 months, range: 10 months-6 years) presenting with headache symptomatology. Mean duration of clinical follow-up: 9.5 months. The diagnosis based on the IHS criteria was then compared to the intuitive clinical diagnosis made in accordance with alternative case definitions. We examined our patients for the presence of early developmental disorders and interictal somatic disorders. We also studied the role of psychosocial factors at the onset and in the course of headache. DIAGNOSIS: migraine without aura in two cases, episodic tension headache in four cases, migrainous disorders not fulfilling above criteria in eight cases, headache of the tension-type not fulfilling above criteria in 12 cases and headache not classifiable in nine cases. Clinical features of headache are described in the text. Early developmental disorders (0-2 years), such as eating difficulties and sleep disorders, were detected in 18/35 children. Among patients older than 2 years, we also detected interictal somatic disorders (20 cases) such as sleep disorders, eating difficulties, enuresis and idiopathic vomiting. In 14/35 subjects, we identified psychosocial components playing a significant role at the onset of, and during, the headache. CONCLUSIONS: A better clinical definition of the disorder would make it easier to identify very young affected children and consequently to plan more specific therapeutic interventions, taking into account environmental and psychological factors. A diagnosis of idiopathic headache becomes particularly significant: according to our cases, despite their being limited in number, migraine and tension headache can be considered also as indices of individual or family related problems requiring appropriate psychiatric or psychological intervention. This stresses the need for a multidisciplinary team of specialists that would include a psychologist/ psychiatrist or headache specialist with specific training in psychiatry.
Asunto(s)
Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/psicología , Cefalea de Tipo Tensional/diagnóstico , Cefalea de Tipo Tensional/psicología , Factores de Edad , Causalidad , Niño , Preescolar , Comorbilidad , Diagnóstico Diferencial , Técnicas de Diagnóstico Neurológico/estadística & datos numéricos , Enuresis/epidemiología , Ambiente , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Italia/epidemiología , Estudios Longitudinales , Masculino , Trastornos Migrañosos/epidemiología , Clínicas de Dolor/normas , Estudios Prospectivos , Psicología , Psicoterapia/normas , Trastornos del Sueño-Vigilia/epidemiología , Cefalea de Tipo Tensional/epidemiología , Vómitos/epidemiologíaRESUMEN
The International Aicardi-Goutières Syndrome Association (IAGSA) was founded in 2000, its aim being to collect and analyse all available information on this rare syndrome (whose true incidence is not known) in order to increase knowledge of the pathology and the number of reported cases. We analysed the clinical, neuroradiological and biological characteristics of 21 new Aicardi-Goutières syndrome subjects (seven observed directly and 14 on whom we gathered detailed clinical information) and compared our findings with data in the literature. The main clinical symptoms (pyramidal and extrapyramidal symptoms, psychomotor delay, microcephaly) and neuroradiological features (basal ganglia calcification, atrophy, white matter alterations) observed show a greater homogeneity in our subjects than in the literature cases, which indicates an improvement in the diagnostic accuracy of Aicardi-Goutières syndrome. Other symptoms, such as feeding difficulties and irritability are less frequent, but characteristic and present early (even at onset of the disease). In the literature, doubts are expressed as to whether lymphocytosis and/or raised interferon-alpha in cerebrospinal fluid are crucial for a diagnosis of Aicardi-Goutières syndrome. Our data suggest that they are, and in particular that an important role is played by raised interferon-alpha. The clinical course seems to show different stages: early onset, rapid progression, severe deterioration, stabilization. Our follow-up seems to indicate a trend not necessarily towards a worsening, but instead towards a stabilization or even a slight improvement of the clinical picture.
Asunto(s)
Enfermedades de los Ganglios Basales/genética , Calcinosis/genética , Proteínas del Líquido Cefalorraquídeo/líquido cefalorraquídeo , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Linfocitosis/genética , Adolescente , Atrofia , Enfermedades de los Ganglios Basales/diagnóstico , Encéfalo/patología , Calcinosis/diagnóstico , Niño , Preescolar , Aberraciones Cromosómicas , Consanguinidad , Diagnóstico Diferencial , Progresión de la Enfermedad , Estudios de Seguimiento , Genes Recesivos , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/diagnóstico , Humanos , Lactante , Recién Nacido , Interferón-alfa/líquido cefalorraquídeo , Linfocitosis/diagnóstico , Microcefalia/diagnóstico , Microcefalia/genética , Examen Neurológico , SíndromeRESUMEN
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.
Asunto(s)
Ceguera/genética , Atrofia Óptica Hereditaria de Leber/genética , Ceguera/congénito , Ceguera/diagnóstico , Diagnóstico Diferencial , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Atrofia Óptica Hereditaria de Leber/diagnóstico , Conducta Estereotipada , SíndromeRESUMEN
The purpose of this study was to evaluate prognostic factors in early-onset childhood epilepsy with occipital paroxysms. We studied retrospectively a population of 46 patients, which was divided into three groups according to seizure frequency group 1, patients experiencing a single seizure (3396); group 2, patients experiencing two to six seizures (48%); and group 3, patients experiencing more than six seizures (20%). The mean follow-up period was about 5 years in the three groups. At the end of the first 6 months of this retrospective follow-up, the average number of seizures was higher in group 3 (2.9 seizures) than in groups 2 and 1 (1.8 and 1 seizure, respectively). We suggest that low seizure frequency in the first 6 months of follow-up could have prognostic value. We propose that the introduction of anti-epilepsy drugs be delayed for 6 months following epilepsy onset and be subsequently limited to patients with frequent seizure recurrence.
Asunto(s)
Epilepsias Parciales/diagnóstico , Lóbulo Occipital , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Diagnóstico Diferencial , Electroencefalografía/efectos de los fármacos , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Lóbulo Occipital/fisiopatología , Resultado del TratamientoRESUMEN
We set out to define visuo-perceptual impairment related to periventricular leukomalacia (PVL) using the Developmental Test of Visual Perception (DTVP). Correlations were sought between visual-perceptual deficits and DTVP profile and neuroradiological and neurophthalmological findings. The DTVP was administered to 20 children (m/f: 10/10), aged between 5 and 8 years (mean: 6.95 years), presenting with: spastic diplegia; PVL documented by brain MRI; normal or mildly impaired visual acuity; mild-moderate upper limb functional impairment. The mean General Visual-Perceptual Quotient was impaired, showing a great variability among the patients. Despite this, an uneven DTPV profile, characterised by a significant difference between the VMIQ and the Non-Motor Visual-Perceptual Quotient (P < 0.001) and a poor result on the Closure subtest (identification of whole figures from incomplete visual information) was observed in all the subjects. This profile reflects a deficit in eye-hand coordination and in praxic-constructional abilities and could be the expression of malfunctioning of the occipital-parietal pathway of visual integration, the so-called 'dorsal stream,' a hypothesis reinforced by the emergence of a statistically significant correlation between the neuroradiological data and the presence of visual-perceptual impairment.
Asunto(s)
Leucomalacia Periventricular/diagnóstico , Leucomalacia Periventricular/fisiopatología , Trastornos de la Percepción/diagnóstico , Trastornos de la Percepción/fisiopatología , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/fisiopatología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Preescolar , Evaluación de la Discapacidad , Femenino , Humanos , Recién Nacido , Leucomalacia Periventricular/complicaciones , Imagen por Resonancia Magnética , Masculino , Modelos Neurológicos , Trastornos de la Destreza Motora/diagnóstico , Trastornos de la Destreza Motora/etiología , Trastornos de la Destreza Motora/fisiopatología , Fibras Nerviosas Mielínicas/patología , Pruebas Neuropsicológicas , Trastornos de la Motilidad Ocular/diagnóstico , Trastornos de la Motilidad Ocular/etiología , Trastornos de la Motilidad Ocular/fisiopatología , Lóbulo Parietal/fisiopatología , Trastornos de la Percepción/etiología , Desempeño Psicomotor/fisiología , Radiografía , Trastornos de la Visión/etiología , Corteza Visual/fisiopatología , Campos Visuales/fisiología , Vías Visuales/diagnóstico por imagen , Vías Visuales/patología , Vías Visuales/fisiopatologíaRESUMEN
Many studies showed that Topiramate (TPM) may be a useful drug in a wide spectrum of childhood epilepsies. We report a 3-month-old female with stormy onset of secondarily generalized partial seizures. She showed a high seizure frequency and a progressive worsening electroencephalogram (EEG), despite standard antiepileptic drugs administration. TPM succeeded in controlling seizures, even after the other drugs were discontinued. This case suggests that TPM may represent a good choice for the treatment of partial seizures refractory to conventional drugs in infants.