Dolor torácico y paraplejía de aparición súbita: un caso de infarto medular / Sudden thoracic pain and paraplegia: a case of spinal cord infarction

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Memoria de trabajo y velocidad de procesamiento evaluado mediante WISC-IV como claves en la evaluación del TDAH / Work memory and processing speed evaluated through WISC-IV as keys in the evaluation of ADHD

Los procesos cognitivos medidos mediante la prueba WISC-IV que con más frecuencia se han relacionado con el TDAH son la memoria de trabajo y la velocidad de procesamiento. Sin embargo, existe controversia sobre la existencia de un perfil cognitivo para el TDAH según su presentación sea inatenta o combinada. El primer objetivo fue corroborar si existen para nuestra muestra correlaciones entre el perfil cognitivo obtenido a través del WISC-IV. El segundo, discernir entre las diferentes presentaciones clínicas. Para ello se seleccionó un grupo control compuesto por 31 sujetos y otro clínico compuesto por 95 sujetos diagnosticados de TDAH. En comparación con el grupo control, el grupo clínico presentó resultados significativamente más bajos en los índices coeficiente intelectual total, memoria de trabajo y velocidad de procesamiento. Por otra parte, el grupo clínico presentó puntuaciones en el índice de capacidad general significativamente superior a las del índice de competencia cognitiva

The cognitive processes that are measured by the scale WISC-IV, which has most often been related to ADHD, Working Memory and Processing Speed. However, there is some controversy concerning the existence of a cognitive profile for ADHD that is related to whether its presentation is of the inattentive type or the combined type. The primary aim of this study was to corroborate whether there are correlations between the cognitive profile obtained through WISC-IV for our sample. The secondary aim of this study was to determine whether that profile allows to discern between the different clinical presentations by using a control group composed of 31 subjects and a clinical group consisting of 95 subjects diagnosed with ADHD. Compared to the control group, the clinical group presented significantly lower results in Intelligence Quotient, Working Memory Index and Processing speed Index. Finally, the clinical group presented scores for the General Capacity Index that were significantly higher than for the Cognitive Competency Index

Asociación genotipo-fenotipo en un niño con neurofibromatosis tipo 1 / Genotype-phenotype association in a boy with neurofibromatosis type 1

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A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

Autoimmune encephalitis: the clinical evolution as a key to the diagnosis.

Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a devastating disease, that despite being increasingly diagnosed, there are no consensus guidelines for the optimal management. A previously healthy 3-year-old-boy brought to the emergency department due to seizures. Neurological examination was normal, and electroencephalogram (EEG) suggested focal epilepsy. Anticonvulsive medication was initiated. He progressively lost age-appropriate language skills, presented behavioural changes and psychiatric symptoms. Neurological examination at that time revealed symmetric gross motor weakness of the lower limbs. Brain and spinal cord MRI and cerebrospinal fluid were normal. Repeated EEG showed global lentification. Steroid therapy was initiated for the suspicion of autoimmune encephalitis, later confirmed as NMDAR encephalitis. He became clinically improved after 10 days of treatment but only returned to his baseline after 3 months of disease onset. The authors emphasised the variable course of the disease and possible late response to treatment.

Mielitis transversa parainfecciosa aguda con radiculitis en una niña con disrafismo espinal cerrado / Acute parainfectious transverse myelitis with radiculitis in a child with closed spinal dysraphism

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Distonía temprana poco frecuente (DYT16) en una niña portuguesa / A rare early-onset dystonia (DYT16) in a Portuguese girl

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Meningoradiculopathy Associated with Human Herpesvirus 7-A Virus with Potential to Cause Severe Neurologic Disease with Sequelae.

We present a case report of a meningoradiculopathy associated with human herpesvirus 7, with long-term motor neurologic sequelae. It is important to consider human herpesvirus 7 as a potential pathogen of severe neurologic disease and sequelae in immunocompetent children, especially in older patients presenting neurologic signs.

Acute mononeuropathy in a child with newly diagnosed type 1 diabetes mellitus.

INTRODUCTION: Neuropathy is a frequent complication of diabetes mellitus (DM), increasing with the duration of the disease, poor glycemic control and advanced age. Acute presentation of a neuropathy in the setting of a newly diagnosed type 1 DM is rare and holds a diagnostic challenge. CASE REPORT: A 10-year-old girl, presented at the emergency service with complaints of polydipsia, polyuria, asthenia and weight lost over the last 15 days, accompanied by difficulties in flexing the right foot, during the previous week. The patient denied any pain, paresthesias, or altered sensibility. There was no fever documented, or recent infectious intercurrence or trauma. On physical examination, she was conscious, collaborative and space and time-orientated, had a diminished strength in the right foot, namely in the dorsiflexion, conditioning a steppage gait ipsilateral. Hyperalgesia was felt in the dorsum of the right feet to the ankle. DM type 1 was diagnosed based on serum glucose of 629 mg/dL and mild ketoacidosis. Investigation for infectious, immune and nutritional aetiologies for the mononeuropathy was negative. Electrophysiological study was suggestive of a lesion of the peroneal nerve on the popliteal cesspit, but was not conclusive. The patient started physiotherapy during her hospital stay and exhibited a slight improvement in the dorsiflexion of the foot. Four months later she was asymptomatic and with good glycaemic control. CONCLUSION: Diabetic neuropathy is a heterogeneous group that still lacks adequate comprehension. Its approach is empirical and demands exclusion of other etiologies. A definitive diagnosis is not always possible and sometimes is retrospective.

Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.

A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases. Identifying the mutation confirms the diagnosis and allows for prenatal counseling and diagnosis in a future pregnancy. When administered within the first few months of life, copper histidinate, given subcutaneously in a dose of 50 to 150 mg/kg per day, appears to be effective not only by increasing life expectancy from 3 to 13 years but also by improving neurologic symptoms and neurodevelopmental outcomes in approximately 30% of the patients.

A Portuguese case of Hirayama disease.

Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a 17-year-old boy with a history of scoliosis, evaluated in the emergency department for decreased muscle strength and atrophy of the left upper limb with progressive worsening for about 6 months. We performed electrophysiological studies that showed severe neurogenic atrophy involving the C7-T1 left myotomes. Brain and spine MRI performed showed flattening of the lower cervical cord and dura mater anterior displacement during cervical flexion. These findings were consistent with the diagnosis of Hirayama disease.

Prevención del alcoholismo e inversiones publicitarias en España: una lucha de David contra Goliath / Alcoholism prevention and alcohol advertising investment in Spain: David versus Goliath

Objetivo: La publicidad de alcohol se correlaciona con su consumo, particularmente entre jóvenes. Estudiamos la evolución de las inversiones publicitarias globales y en bebidas alcohólicas en España durante el período 1995-2005. Métodos: Se analizaron los informes anuales INFOADEX y otras fuentes informativas sobre la inversión publicitaria global y de bebidas alcohólicas en medios de comunicación convencionales (TV, radio, prensa escrita, cartelera externa e Internet), así como los gastos autonómicos en prevención. El estudio se subdividió entre los periodos 1995-2000 y 2001-2005. Resultados: Entre 1995-2000 hubo incremento (¬) en la publicidad alcoholera (de 268 a 347 millones €; ¬=29,5%), pero disminución en el porcentaje de tal publicidad respecto a la global (de 7,6% al 6,1%). Entre 2001-2005 hubo ¬ en las cantidades de publicidad (de 145 a 186 millones €; ¬=28,0%) y del porcentaje con respecto a la global (del 2,7% al 2,8%). En 2001-2005 la inversión autonómica preventiva pasó de 22 a 52 millones € (¬=136%).Conclusiones: Los gastos publicitarios en alcohol permanecen altos en España, siendo los jóvenes objetivos preferentes. Aunque en aumento, son aún modestas las inversiones publicitarias en prevención. Se precisan medidas reguladoras para proteger a poblaciones susceptibles para su consumo inmoderado (AU)

Objective: Alcohol advertising correlates with consumption, particularly in young people. We studied the evolution of the amounts spent on alcoholic beverages advertising and on advertising as a whole in conventional media in Spain during the period 1995-2005. Methods: We analyzed the amounts spent on advertising in total and on alcoholic beverages advertising by studying the annual INFOADEX Survey on Advertising Investment in Spain in conventional media (TV, radio, the press, billboards and Internet). The results were subdivided into the periods 1995-2000 and 2001-2005. Results: In the period 1995-2000 there was an increase (¬) in alcoholic beverages advertising expenditure, from 268 to 347 million € (-=29.5%), but a decrease in its percentage of advertising as a whole (from 7.6% to 6.1%). In the period 2001-2005 there was a rise in alcohol advertising expenditure from 145 to 186million € (¬=28.0%), and also in its percentage of total advertising (from 2.7% to2.8%). In 2001-2005, spending by Regional governments on preventive advertising increased from 22 to 52 million € (¬=136%). Conclusions: Alcohol advertising expenditure remains high in Spain, with young people as a primary target. In contrast, there is only modest investment in preventive advertising. Regulatory measures are necessary with a view to protecting populations especially susceptible to uncontrolled consumption (AU)