RESUMEN
By means of a longitudinal case study, we demonstrated the course of cerebral reorganization of language representation due to epilepsy in a child with benign epilepsy with centro-temporal spikes (BECTS) evolving to Landau-Kleffner Syndrome (LKS) and returning to BECTS. The child underwent the following procedures at the ages of 8.2, 8.6, and 9.3 years: 3D source EEG imaging, language fMRI (sentence generation and reading), and neuropsychological testing. He had a follow-up testing at the age of 10.8 years. Further, 24-h EEGs were regularly performed. At the age of around 8 years, the child was diagnosed initially with left-hemispheric BECTS, which evolved to LKS with continuous bilateral discharges. In addition, 3D source imaging data revealed a left anterior temporal focus with a spreading to the right parietal and left centro-parietal areas. The patient had verbal agnosia with poor verbal yet good performance indices. Functional magnetic resonance imaging (fMRI) showed a left-hemispheric reading network but sentence generation was impossible to perform. After initiation of adequate treatment, continuous discharges disappeared, and only very rare left-hemispheric centro-temporal spikes remained. Verbal IQ and performance IQ increased at the age of 8.6 years. Functional magnetic resonance imaging showed, at this time, a right-hemispheric language activation pattern for sentence generation and reading. At the ages of 9.3 and 10.8 years, language tasks remained right-hemispheric and verbal IQ remained stable, but right-hemispheric non-verbal functions decreased due to possible crowding-out mechanisms.
Asunto(s)
Encéfalo , Trastornos del Conocimiento/etiología , Síndrome de Landau-Kleffner/complicaciones , Síndrome de Landau-Kleffner/patología , Trastornos del Desarrollo del Lenguaje/etiología , Recuperación de la Función/fisiología , Encéfalo/irrigación sanguínea , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Electroencefalografía , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Pruebas de Inteligencia , Pruebas del Lenguaje , Estudios Longitudinales , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Oxígeno/sangreRESUMEN
OBJECTIVE: The role of dystrobrevin, a cytoplasmic component of the dystrophin-protein complex, in neuromuscular diseases has not been fully elucidated. This study evaluated the expression of dystrobrevin in patients with different neuromuscular diseases. METHODS: We compared dystrobrevin isoforms expression in patients with Duchenne and Becker Muscular Dystrophy (DMD and BMD) and patients with other neuromuscular disorders not linked to the dystrophin-associated complex. RESULTS: Both, alpha-dystrobrevin-1 and -2 isoforms are markedly reduced in the muscle of patients with dystrophinopathies irrespective of the age at the time of biopsy. Conversely, alpha-dystrobrevin-1 was preserved in Limb Girdle Muscular Dystrophies (LGMD) type 2I patients with altered glycosylation of alpha-dystroglycan and in patients with alterations of alpha-dystroglycan due to defects in extracellular matrix proteins (laminin-alpha2). CONCLUSIONS: Immunolabeling of dystrobrevin could be a useful marker in the diagnostic of neuromuscular diseases.
Asunto(s)
Proteínas Asociadas a la Distrofina/metabolismo , Distrofias Musculares/metabolismo , Adolescente , Adulto , Biomarcadores/metabolismo , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Cohortes , Distrofina/metabolismo , Complejo de Proteínas Asociado a la Distrofina/fisiología , Humanos , Distrofias Musculares/etiología , Distrofias Musculares/patología , Isoformas de Proteínas/metabolismo , Adulto JovenRESUMEN
Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.
Asunto(s)
Biología Molecular , Distrofia Muscular de Duchenne/genética , Patología Clínica , Niño , Creatina Quinasa/análisis , Creatina Quinasa/sangre , Distrofina/genética , Genotipo , Humanos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/fisiopatología , Fenotipo , SuizaRESUMEN
Pediatricians currently have improved understanding of how to best manage childhood hypertension. The goal of antihypertensive drug therapy in children with secondary hypertension is currently to reduce the blood pressure below the 90th centile. Most authors currently favor therapy with a blocker of the renin-angiotensin system (a converting enzyme inhibitor or an angiotensin II antagonist) or a calcium channel blocker. In patients with kidney disease and diabetes mellitus we generally advise therapy of hypertension with a blocker of the renin-angiotensin system especially in the presence of pathological proteinuria.
Asunto(s)
Antihipertensivos/uso terapéutico , Hipertensión/tratamiento farmacológico , Niño , HumanosRESUMEN
Apnoea as an isolated manifestation of seizures is well described in neonates but is only occasionally observed in infants. We present data from four infants, with apnoea as the sole manifestation of seizures, documented by polygraphic ictal electroencephalogram (EEGC) and video recording. The four infants, after normal pregnancy and delivery at term, showed the first apnoea at the age of 2-11 months. The interictal EEG was normal. The ictal EEG and video recording showed in all infants a focal rhythmic alpha or theta activity with or without generalization, which lasted 40-120 seconds. The apnoea appeared a few seconds after the beginning of rhythmic activity and the heart rate remained unchanged during the apnoea. At 2 years' follow-up, three children are seizure-free under anti-epileptic therapy with normal psychomotor development in two, and a slight delay in the third infant. The fourth child has partial seizures and is severely retarded.
Asunto(s)
Apnea/etiología , Epilepsia/complicaciones , Apnea/diagnóstico , Atrofia/patología , Diagnóstico Diferencial , Electroencefalografía , Epilepsia/diagnóstico , Femenino , Lóbulo Frontal/patología , Frecuencia Cardíaca/fisiología , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Embarazo , Lóbulo Temporal/patologíaRESUMEN
The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinical and radiologic findings in an adolescent presenting with anterior spinal artery syndrome. The laboratory results showed a hereditary protein S deficiency.
Asunto(s)
Síndrome de la Arteria Espinal Anterior/diagnóstico , Síndrome de la Arteria Espinal Anterior/etiología , Deficiencia de Proteína S/complicaciones , Médula Espinal/patología , Adolescente , Síndrome de la Arteria Espinal Anterior/fisiopatología , Diagnóstico Diferencial , Predisposición Genética a la Enfermedad , Humanos , Imagen por Resonancia Magnética , Masculino , Paraplejía/etiología , Trombosis/etiologíaRESUMEN
Malformative lesions as well as neoplasms can cause intractable epilepsy in childhood. Even though the neoplastic nature of a lesion is evident in most cases, the distinction can be difficult in some patients. We present the case of a child with intractable epilepsy caused primarily by a glioneuronal malformation. Years after the first surgical intervention, a pleomorphic xanthoastrocytoma evolved from remnants of this lesion. This case suggests that glioneuronal malformations might be precursor lesions of pleomorphic xanthoastrocytomas.
Asunto(s)
Astrocitoma/complicaciones , Encefalopatías/congénito , Neoplasias Encefálicas/complicaciones , Epilepsia/etiología , Neuroglía/patología , Astrocitoma/etiología , Encefalopatías/complicaciones , Neoplasias Encefálicas/etiología , Humanos , Lactante , MasculinoRESUMEN
Rhabdomyolysis occurred in two apparently healthy boys aged 9.5 and 5.5 years after general anesthesia with suxamethonium. Mild hyperkalemia and renal failure were observed in the first patient, who was subsequently diagnosed with Becker dystrophy. In the second patient, the clinical presentation was not classic for malignant hyperthermia and a muscle biopsy failed to disclose any pathological finding. A review of the literature revealed 66 pediatric cases (56 boys and 10 girls) of anesthesia-associated rhabdomyolysis. Forty-nine (74%) cases were caused by an underlying, mostly unrecognized congenital muscle disease, and 14 (21%) cases were caused by malignant hyperthermia susceptibility. Hyperkalemia (23 patients), cardiac arrhythmias (38 patients), renal failure (4 patients), and death (11 patients) were the most serious complications of anesthesia-associated rhabdomyolysis. The neuromuscular blocking agent suxamethonium had been used in at least 43 of the patients reported in the literature.
Asunto(s)
Anestesia General/efectos adversos , Fármacos Neuromusculares Despolarizantes/efectos adversos , Rabdomiólisis/inducido químicamente , Succinilcolina/efectos adversos , Niño , Creatina Quinasa/análisis , Creatinina/análisis , Humanos , Masculino , Rabdomiólisis/diagnósticoRESUMEN
A male carrying an interstitial deletion of chromosome 14, presumably del(14)(q11.2q13), and presenting with abnormal myelination on magnetic resonance imaging is described. The abnormal myelination was evidenced as a high-signal intensity on T(2)-weighted magnetic resonance imaging. The patient had severe neurologic signs, various dysmorphic features, and a marked microcephaly. To our knowledge, this case is the first patient reported with abnormal myelination and a deletion of chromosome 14.
Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 14/genética , Microcefalia/genética , Vaina de Mielina/genética , Niño , Trastornos de los Cromosomas/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Microcefalia/diagnóstico , Vaina de Mielina/fisiologíaRESUMEN
Five children (3 girls and 2 boys) who showed generalized synchronous 3/sec spike and wave complexes as well as centrotemporal spikes in the same EEG or in different EEGs are described. Among these five patients only 1 boy and 1 girl showed clinically both absence seizures and partial motor seizures with or without secondary generalization. One girl and 1 boy have only absences and the other girl only partial motor seizures. A concomitance of generalized synchronous 3/sec spike and wave discharges and centrotemporal spikes in the same patient is rarely found. The clinical manifestation of absences and partial motor seizures in the same patient is extremely rare.
Asunto(s)
Electroencefalografía , Epilepsia Tipo Ausencia/fisiopatología , Epilepsia Rolándica/fisiopatología , Niño , Preescolar , Epilepsia Tipo Ausencia/complicaciones , Epilepsia Rolándica/complicaciones , Femenino , Humanos , MasculinoRESUMEN
We present an 11-year-old girl with tuberous sclerosis who developed seizures characterized by circling behavior. Rotatory seizures are uncommon and occur mainly secondary to a focal pathology. Our patient had a right temporal epileptic focus, confirmed by magnetic resonance imaging (MRI) to be a subcortical lesion in the right temporal region. This case is probably the first reported case of tuberous sclerosis associated with rotatory seizures with an ictal EEG.
Asunto(s)
Epilepsia del Lóbulo Temporal/fisiopatología , Orientación/fisiología , Conducta Estereotipada/fisiología , Esclerosis Tuberosa/fisiopatología , Mapeo Encefálico , Niño , Dominancia Cerebral/fisiología , Epilepsia del Lóbulo Temporal/diagnóstico , Femenino , Humanos , Imagen por Resonancia Magnética , Rotación , Lóbulo Temporal/fisiopatología , Esclerosis Tuberosa/diagnósticoRESUMEN
The clinical and neuro-endocrine data of seven young male patients with suprasellar germinomas seen between 1984 and 1992 are reported. The most common initial symptom was 'idiopathic' central diabetes insipidus (DI), which occurred in all seven patients. The time interval between the appearance of this first clinical sign and the definitive diagnosis of a suprasellar germinoma ranged from 3 to 66 months. Raised prolactin levels and growth hormone deficiency were indicators of a process located in the hypothalamic-pituitary region. An increased beta-HCG level in the serum or the CSF confirmed the diagnostic suspicion of a germinoma and was helpful as a tumor marker in follow-up. Neuro-radiologic studies (CT or MRI) were also disappointing in the early stage when patients presented only with DI. Later on, as patients developed additional symptoms or signs related to the tumor, imaging studies were positive. Given the variable rate of tumor progression, the nonspecific early signs of hypothalamic-pituitary dysfunction (DI) as well as the often negative early imaging studies, the diagnosis of suprasellar germinoma is difficult but should always be considered in the presence of so-called 'idiopathic' central DI. Repeated brain MRIs are mandatory in young patients with idiopathic DI in order not to miss an underlying suprasellar germinoma.
Asunto(s)
Neoplasias Encefálicas/diagnóstico , Germinoma/diagnóstico , Silla Turca , Adolescente , Adulto , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/fisiopatología , Niño , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Gonadotropina Coriónica Humana de Subunidad beta/líquido cefalorraquídeo , Diabetes Insípida/diagnóstico , Diabetes Insípida/etiología , Diagnóstico Diferencial , Germinoma/complicaciones , Germinoma/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Prolactina/sangre , Tomografía Computarizada por Rayos XRESUMEN
We present clinical and cytogenetic data of a one year old boy with partial monosomy for both 21q and 18p, resulting from a de novo unbalanced translocation. The initial diagnosis of a seemingly full monosomy 21 was revised after fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and a locus-specific chromosome 21 probe. The karyotype was reinterpreted as 45,XY,der(18)t(18;21)(p11.2;q22.1),-21. This karyotype, to our knowledge, has not been previously described. The boy presented with a spectrum of clinical features previously described for (partial) monosomy 18p only, for monosomy 21q only, or for both of these aneusomies. The radiological finding of a neuronal migration disorder with localised polymicrogyria (cortical dysplasia) has not been described for either monosomy before.
Asunto(s)
Movimiento Celular/genética , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 21 , Monosomía/genética , Neuronas/citología , Translocación Genética , Anomalías Múltiples/genética , Corteza Cerebral/patología , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Imagen por Resonancia Magnética , MasculinoRESUMEN
We report on three children with acute transverse myelitis. One of them also had optic neuritis. In connection with these three cases, we discuss etiology, diagnosis and outcome of transverse myelitis in childhood and possible involvement of the optic nerve. Our observations show the variability of spinal cord deficit and the fact that there can be a good prognosis, despite severe initial neurological deficits and massive elevation of basic myelin protein in children with ATM.
Asunto(s)
Mielitis Transversa/diagnóstico , Neuromielitis Óptica/complicaciones , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Mielitis Transversa/complicaciones , Parálisis/etiología , Remisión EspontáneaAsunto(s)
Trastornos de los Cromosomas/genética , Proteínas del Citoesqueleto/deficiencia , Proteínas del Citoesqueleto/genética , Elementos Transponibles de ADN/genética , Genes Recesivos/genética , Glicoproteínas de Membrana/deficiencia , Glicoproteínas de Membrana/genética , Distrofias Musculares/genética , Mutación Puntual/genética , Secuencia de Aminoácidos/genética , Secuencia de Bases/genética , Niño , Trastornos de los Cromosomas/metabolismo , Trastornos de los Cromosomas/patología , Análisis Mutacional de ADN , Distrofina/metabolismo , Exones/genética , Femenino , Humanos , Inmunohistoquímica , Datos de Secuencia Molecular , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , SarcoglicanosAsunto(s)
Angiografía Cerebral , Imagen por Resonancia Magnética , Enfermedad de Moyamoya/diagnóstico , Ultrasonografía Doppler en Color , Angiografía de Substracción Digital , Preescolar , Electroencefalografía , Estudios de Evaluación como Asunto , Femenino , Humanos , Enfermedad de Moyamoya/diagnóstico por imagenRESUMEN
Paroxysmal non-epileptic disorders may cause episodic and paroxysmal symptoms that mimic true epileptic seizures and they must be considered in the differential diagnosis. Paroxysmal movement disorders are not uncommon in infants, but are probably under-recognised. These phenomena represent various clinical situations, characterised by intermitted and episodic disturbances of movement. Clinical experience and a detailed history and careful observation with video recording are often helpful to establish the correct diagnosis. In the large majority of the cases, paroxysmal movement disorders are benign situation. Most of the time, no treatment will be required, and the families will be informed of the good prognosis. These disorders in infants are discussed in the present review.
Asunto(s)
Distonía/etiología , Mioclonía/etiología , Convulsiones/etiología , Diagnóstico Diferencial , Distonía/diagnóstico , Humanos , Lactante , Recién Nacido , Mioclonía/diagnóstico , Convulsiones/diagnóstico , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiologíaRESUMEN
AIM: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke. METHODS: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.2000 to 1.7.2002, including children (AIS 1) and neonates (AIS 2). At 18-24 months after a stroke, a follow-up examination was performed including a history, neurological and neuropsychological assessment. RESULTS: 33/48 children (22 AIS 1, 11 AIS 2) participated in the study. Neurological outcome was good in 16/33. After childhood stroke mean IQ levels were normal (94), but 6 children had IQ < 85 (50-82) and neuropsychological problems were present in 75%. Performance IQ (93) was reduced compared to verbal IQ (101, p = 0.121) due to problems in the domain of processing speed (89.5); auditory short-term memory was especially affected. Effects on school career were common. Outcome was worse in children after right-sided infarction. Children suffering from stroke in mid-childhood had the best prognosis. There was no clear relationship between outcome and localisation of the lesion. After neonatal stroke 7/11 children showed normal development and epilepsy indicated a worse prognosis in the remaining 4. CONCLUSION: After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.
Asunto(s)
Inteligencia/fisiología , Procesos Mentales/fisiología , Pruebas Neuropsicológicas/estadística & datos numéricos , Accidente Cerebrovascular/fisiopatología , Adolescente , Factores de Edad , Infarto Encefálico/patología , Infarto Encefálico/fisiopatología , Niño , Preescolar , Escolaridad , Femenino , Estudios de Seguimiento , Humanos , Pruebas de Inteligencia , Masculino , Evaluación de Resultado en la Atención de Salud , Caracteres Sexuales , Suiza/epidemiologíaRESUMEN
We report the results of three years of the population-based, prospective Swiss NeuroPaediatric Stroke Registry (SNPSR) of children (up to 16 years) with childhood arterial ischaemic stroke (AIS1), neonatal stroke (AIS2), or symptomatic sinus venous thrombosis (SVT). Data on risk factors (RF), presentation, diagnostic work-up, localisation, and short-term neurological outcome were collected. 80 children (54 males) have been included, 40 AIS1, 23 AIS2, and 17 SVT. The data presented will be concentrated on AIS. The presentation for AIS1 was hemiparesis in 77% and cerebellar symptoms and seizures in 20%, respectively. AIS2 presented in 83% with seizures and in 38% with abnormality of muscle tone. Two or more RF were detected in 54%, one RF in 35%. The most prominent RF for AIS1 were infections (40%), followed by cardiopathies and coagulopathies (25% each). AIS2 were frequently related to birth problems. Neurological outcomes in AIS1 and AIS2 were moderate/severe in 45 % and 32 %, respectively. The outcome correlated significantly with the size of infarction (p = 0.013) and age at stroke (p = 0.027). The overall mortality was 6%. Paediatric stroke is a multiple risk problem, which leads to important long-term sequelae.