Bone Infarct as an Indicator of Acute Spinal Ischaemia.

Acute spinal cord infarct in childhood is extremely rare, generally secondary to spinal/cardiovascular surgery or severe vertebral injuries. However, spontaneous spinal cord infarct cases have been described. We present a clinical case of a teenager who developed an acute weakness and paraesthesia in lower limbs after playing piggyback. Laboratory tests and MRI (magnetic resonance imaging) were normal. During her hospital admission, her motor strength improved. After 10 days, MRI was repeated, and a bone infarct was observed. She was medicated with acetylsalicylic acid, and she completed a rehabilitation program.

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. RESULTS: Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's α = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. CONCLUSIONS: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.

Síndrome de Sturge-Weber sin nevus facial: angiomatosis leptomeníngea frontal con evolución favorable / Sturge-Weber syndrome without facial nevus: frontal leptomeningeal angiomatosis with favourable development

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[Refractory status epilepticus presenting as shaken baby syndrome]. / Estado epileptico refractario como forma de presentacion del sindrome del bebe zarandeado.

INTRODUCTION: A convulsive status in infants is usually triggered by a febrile syndrome secondary to an intercurrent infection or an infection affecting the central nervous system. Shaken baby syndrome is characterised by its association with bilateral or multifocal haemorrhage, retinal haemorrhage and encephalopathy. Children under one year old are the group with the highest risk, with a maximum incidence reaching a peak between 10 and 16 weeks of age. Intercurrent processes, such as baby colic or febrile syndromes that tend to step up crying, are usually precipitating factors of shaking. CASE REPORTS: We present the cases of two infants who began with a status epilepticus within a context of a febrile syndrome. Imaging tests revealed bilateral subdural haematomas in different stage of progress and bilateral retinal haemorrhages were observed in the fundus oculi of both children. CONCLUSIONS: In a child with an unspecific febrile process that develops a convulsive status, the professional should suspect, in addition to more usual problems, shaken baby syndrome as a possible causation, above all if the child is under six months old.

TITLE: Estado epileptico refractario como forma de presentacion del sindrome del bebe zarandeado.Introduccion. El estado convulsivo en el lactante suele ser desencadenado por un sindrome febril secundario a una infeccion intercurrente o una infeccion del sistema nervioso central. El sindrome del bebe zarandeado se caracteriza por la asociacion de hemorragia subdural bilateral o multifocal, hemorragia retiniana y encefalopatia. Los niños menores de 1 año constituyen el grupo de mayor riesgo, con un pico de incidencia maxima entre las 10 y 16 semanas de vida. Los procesos intercurrentes, como los colicos del lactante o los sindromes febriles que favorecen el llanto, suelen ser factores precipitantes del zarandeo. Casos clinicos. Presentamos los casos de dos lactantes que en el contexto de un sindrome febril comenzaron con un estado epileptico. En las pruebas de imagen se evidenciaron hematomas subdurales bilaterales en diferente estadio evolutivo y en el fondo de ojo se observaron hemorragias retinianas bilaterales en ambos niños. Conclusiones. En un niño con un proceso febril inespecifico que desarrolla un estado convulsivo se debe pensar, ademas de en los problemas mas habituales, en el sindrome del bebe zarandeado como posible causa etiologica, sobre todo si es menor de 6 meses.

Estado epiléptico refractario como forma de presentación del síndrome del bebé zarandeado / Refractory status epilepticus presenting as shaken baby syndrome

Introducción. El estado convulsivo en el lactante suele ser desencadenado por un síndrome febril secundario a una infección intercurrente o una infección del sistema nervioso central. El síndrome del bebé zarandeado se caracteriza porla asociación de hemorragia subdural bilateral o multifocal, hemorragia retiniana y encefalopatía. Los niños menores de 1 año constituyen el grupo de mayor riesgo, con un pico de incidencia máxima entre las 10 y 16 semanas de vida. Los procesos intercurrentes, como los cólicos del lactante o los síndromes febriles que favorecen el llanto, suelen ser factores precipitantes del zarandeo. Casos clínicos. Presentamos los casos de dos lactantes que en el contexto de un síndrome febril comenzaron con un estado epiléptico. En las pruebas de imagen se evidenciaron hematomas subdurales bilaterales en diferente estadio evolutivo y en el fondo de ojo se observaron hemorragias retinianas bilaterales en ambos niños. Conclusiones. En un niño con un proceso febril inespecífico que desarrolla un estado convulsivo se debe pensar, además de en los problemas más habituales, en el síndrome del bebé zarandeado como posible causa etiológica, sobre todo si es menor de 6 meses (AU)

Introduction. A convulsive status in infants is usually triggered by a febrile syndrome secondary to an intercurrent infection or an infection affecting the central nervous system. Shaken baby syndrome is characterised by its association with bilateral or multifocal haemorrhage, retinal haemorrhage and encephalopathy. Children under one year old are the group with the highest risk, with a maximum incidence reaching a peak between 10 and 16 weeks of age. Intercurrent processes, such as baby colic or febrile syndromes that tend to step up crying, are usually precipitating factors of shaking. Case reports. We present the cases of two infants who began with a status epilepticus within a context of a febrile syndrome. Imaging tests revealed bilateral subdural haematomas in different stage of progress and bilateral retinal haemorrhages were observed in the fundus oculi of both children. Conclusions. In a child with an unspecific febrile process that develops a convulsive status, the professional should suspect, in addition to more usual problems, shaken baby syndrome as a possible causation, above all if the child is under six months old (AU)

[Involvement of vesicular monoamine transporter in attention deficit hyperactivity disorder]. / Implicacion del transportador vesicular de monoaminas en el trastorno por deficit de atencion/hiperactividad.

INTRODUCTION: A number of genetic and neuroimagen proofs support the idea that attention-deficit/hyperactivity disorder (ADHD) present a neurobiological alteration. Vesicular monoamine transporters (VMATs) are important proteins that regulate the intraneuronal monoamine concentration and disposition as this protein sequesters cytoplasmic dopamine within synaptic vesicles thus contributing to subsequent excitotoxic release. DEVELOPMENT: Two pharmacologically distinct VMAT isoforms VMAT1 and VMAT2 have been cloned and described. The VMAT2, in the CNS, is responsible for the translocation of dopamine from the cytoplasm into synaptic vesicles. In addition, it has been described a neuroprotector role for these transporters. The platelet vesicular monoamine transporter VMAT2 is used as a peripheral model of neuronal VMAT2. Its quantification has been used to perform studies of ADHD and other neuropsychiatry diseases related with the monoamines metabolism. CONCLUSION: Since dopamine and other monoamines (epinephrine and serotonine) play a role in ADHD, and methylphenidate, an usual treatment for this type of patients, modifies the VMAT2 activity, we may argue that VMAT2 is involved in ADHD pathogeny.

Implicación del transportador vesicular de monoaminas en el trastorno por déficit de atención/hiperactividad / Involvement of vesicular monoamine transporter in attention deficit hyperactivity disorder

Introducción. Existen numerosas evidencias genéticas y de neuroimagen que apoyan la presencia de una alteración neurobiológica en el trastorno por déficit de atención/hiperactividad (TDAH). Los transportadores vesiculares de monoaminas (VMAT) son proteínas localizadas en las vesículas sinápticas, que se encargan de introducir las aminas biógenas desde el citoplasma celular al interior de dichas vesículas, para posteriormente poder ser liberadas. Desarrollo. Se han identificado y clonado dos isoformas de este transportador, el tipo 1 (VMAT1) y el tipo 2 (VMAT2). El VMAT2, en el sistema nervioso central, se encarga de secuestrar la dopamina citosólica y llevarla al interior de las vesículas sinápticas. Además, se le ha atribuido un papel neuroprotector. La cuantificación del VMAT2 plaquetario se utiliza como un modelo periférico de la actividad del VMAT2 cerebral para el estudio del TDAH y de otras enfermedades neuropsiquiátricas relacionadas con el metabolismo de las bioaminas. Conclusión. Considerando el papel que desempeñan la dopamina y otras monoaminas (noradrenalina, serotonina) en el TDAH, y que el metilfenidato, un tratamiento habitual de estos pacientes, puede modificar la actividad del VMAT2, sería lógico pensar que este transportador esté involucrado en la patogenia del TDAH (AU)

Introduction. A number of genetic and neuroimagen proofs support the idea that attention-deficit/hyperactivity disorder (ADHD) present a neurobiological alteration. Vesicular monoamine transporters (VMATs) are important proteins that regulate the intraneuronal monoamine concentration and disposition as this protein sequesters cytoplasmic dopamine within synaptic vesicles thus contributing to subsequent excitotoxic release. Development. Two pharmacologically distinct VMAT isoforms VMAT1 and VMAT2 have been cloned and described. The VMAT2, in the CNS, is responsible for the translocation of dopamine from the cytoplasm into synaptic vesicles. In addition it has been described a neuroprotector role for these transporters. The platelet vesicular monoamine transporter VMAT2 is used as a peripheral model of neuronal VMAT2. Its quantification has been used to perform studies of ADHD and other neuropsychiatry diseases related with the monoamines metabolism.Conclusion. Since dopamine and other monoamines (epinephrine and serotonine) play a role in ADHD, and methylphenidate, an usual treatment for this type of patients, modifies the VMAT2 activity, we may argue that VMAT2 is involved in ADHD pathogen (AU)