Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. / Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne.

INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DEVELOPMENT: We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. CONCLUSIONS: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.

[Presumed perinatal ischemic stroke: risk factors and clinical and radiological findings]. / Ictus isquemico presumiblemente perinatal: factores de riesgo, hallazgos clinicos y radiologicos.

INTRODUCTION: Presumed perinatal ischemic stroke is a frequent cause of neurological sequelae. We aimed to describe the different clinical findings and risk factors and to analyse the differences according the vascular origin. PATIENTS AND METHODS: Retrospective, descriptive study of patients diagnosed with presumed perinatal ischemic stroke attended at a tertiary pediatric hospital from 1990 to 2015. RESULTS: 44 patients were included. A total of 24 patients (55%) had arterial ischemic stroke and 20 (45%) had periventricular venous infarction. Delay in diagnosis was significantly higher in patients with periventricular venous infarction compared to those with arterial ischemic stroke (14 and 8 months respectively; p = 0.025). Most patients presented with asymmetrical motor development (90%), only < 5% with seizures or non motor delays. Subsequent epilepsy at follow-up was significantly more prevalent in arterial ischemic stroke group (p = 0.020). We determined risk factors theoretically involved in the pathogenesis of presumed perinatal ischemic stroke: prenatal, obstetrical, perinatal, prothrombotic and cardiac. No significant differences between risk factors and vascular origin were found. Prothrombotic abnormalities were common (48.3%). CONCLUSIONS: Investigation in risk factors implicated in presumed perinatal ischemic stroke is required to develop prevention strategies. Delay in diagnosis is higher in periventricular venous infarction group.

TITLE: Ictus isquemico presumiblemente perinatal: factores de riesgo, hallazgos clinicos y radiologicos.Introduccion. El ictus isquemico presumiblemente perinatal es una causa frecuente de secuelas neurologicas importantes. Los objetivos del estudio son describir las caracteristicas clinicas y los factores de riesgo implicados, y analizar las diferencias segun su origen vascular. Pacientes y metodos. Estudio descriptivo retrospectivo que incluye pacientes con diagnostico de ictus isquemico presumiblemente perinatal atendidos en un hospital terciario entre 1990-2015. Resultados. Se incluyeron 44 pacientes: 24 (55%) fueron de origen arterial, frente a 20 (45%) de origen venoso. El diagnostico fue significativamente mas tardio en los de origen venoso que en los de origen arterial (14 y 8 meses respectivamente; p = 0,025). La mayoria comenzo con un deficit motor (90%), y las crisis epilepticas y el retraso psicomotor global fueron menos frecuentes en ambos grupos (< 5%). La prevalencia de epilepsia posterior fue significativamente mas frecuente entre los de origen arterial (p = 0,020). Se analizaron los factores de riesgo teoricamente implicados en su patogenia: prenatales, obstetricos, perinatales, protromboticos y cardiacos, sin hallarse diferencias significativas en la presencia de estos entre los infartos arteriales y los venosos. Encontramos la presencia de al menos una alteracion en el estudio de hipercoagulabilidad en el 48,3% de los pacientes. Conclusion. Es preciso investigar el papel que desempeñan los factores de riesgo implicados en el ictus isquemico presumiblemente perinatal para establecer medidas preventivas. Su diagnostico es mas tardio si el origen es venoso.

[Obstetric brachial plexus palsy: incidence, monitoring of progress and prognostic factors]. / Paralisis braquial obstetrica: incidencia, seguimiento evolutivo y factores pronosticos.

INTRODUCTION: Obstetric brachial plexus palsy is related with shoulder dystocia, and its main risk factor is macrosomia. Its incidence is estimated to be between 0.1 and 6.3 cases per 1,000 live newborn infants. Most cases are resolved but can give rise to permanent functional deficiency, which means that there is an interest to identify possible prognostic factors. PATIENTS AND METHODS: We conducted a descriptive study of newborn infants with obstetric brachial plexus palsy born in our hospital between the years 2011 and 2015. Maternal, perinatal and obstetric variables, as well as the type of lesion, were collected and were related with the possibility of recovery at six months. RESULTS: Altogether 32 cases were diagnosed, which represents an incidence of 1.44‰ of live newborn infants. 59% were males and 37.5% of them were macrosomic. The most frequent disorder was injury to the plexus at the proximal level (94%). 44% suffered from shoulder dystocia, and 47% still had sequelae at the sixth month. The antecedent of shoulder dystocia was related with a poor prognosis for recovery. CONCLUSIONS: The incidence of obstetric brachial plexus palsy has remained stable in recent years. The percentage of children who present sequelae at six months is significant. Prospective studies are needed to be able to establish the long-term prognostic factors of this pathology.

TITLE: Paralisis braquial obstetrica: incidencia, seguimiento evolutivo y factores pronosticos.Introduccion. La paralisis braquial obstetrica se relaciona con la distocia de hombros, y su principal factor de riesgo es la macrosomia. Su incidencia se estima entre 0,1 y 6,3 casos por 1.000 recien nacidos vivos. La mayoria de los casos se resuelve, pero puede provocar deficit funcional permanente, por lo que es de interes identificar posibles factores pronosticos. Pacientes y metodos. Estudio descriptivo de los recien nacidos con paralisis del plexo braquial obstetrica nacidos en el hospital entre los años 2011 y 2015. Se han recogido variables maternas, perinatales, obstetricas y del tipo de lesion, y se han relacionado con la posibilidad de la recuperacion a los seis meses. Resultados. Se diagnosticaron 32 casos, lo que supone una incidencia del 1,44‰ de recien nacidos vivos. El 59% fueron varones, y el 37,5%, macrosomicos. La afectacion mas frecuente fue la lesion del plexo a nivel proximal (94%). El 44% sufrio distocia de hombros, y el 47% permanecio con secuelas al sexto mes. El antecedente de distocia de hombros se relaciono con mal pronostico de recuperacion. Conclusiones. La incidencia de paralisis braquial obstetrica se mantiene estable en los ultimos años. El porcentaje de niños que presentan secuelas a los seis meses es relevante. Son necesarios estudios prospectivos para poder establecer los factores pronosticos a largo plazo de esta patologia.

[Language disorders in acute cerebellitis: beyond dysarthria]. / Alteraciones del lenguaje en la cerebelitis aguda: mas alla de la disartria.

INTRODUCTION: Acute cerebellitis is one of the main causes of cerebellar syndrome in infancy. Among the wide range of manifestations, headache and ataxia being the most predominant, we can find other less frequent, although nonetheless interesting, ones, such as language disorders, which go beyond the well-known cerebellar dysarthria. The different combinations in which the symptoms can appear, especially when not accompanied by ataxia, make the condition a real challenge for the clinician. CASE REPORTS: Two patients, aged 2 and 4 years, with clinical features, lab tests and neuroimaging results consistent with parainfectious acute cerebellitis. Both of them also presented a striking language disorder, one in the form of cerebellar mutism and the other in the form of hypofluency and agrammatism, the latter also developing in the absence of ataxia. Both cases progressed favourably, and mild speech alterations persisted in the follow-up visits. CONCLUSIONS: Cases such as these expand the range of clinical manifestations of acute cerebellitis. The involvement of the cerebellum in neurocognitive processes like language is becoming increasingly more important and, although many aspects are still only speculations, managing to define its true role will have important repercussions on the diagnosis, treatment and long-term prognosis of these patients.

TITLE: Alteraciones del lenguaje en la cerebelitis aguda: mas alla de la disartria.Introduccion. La cerebelitis aguda es una de las principales causas de sindrome cerebeloso en la infancia. Entre un amplio elenco de manifestaciones, en el que predominan la cefalea y la ataxia, podemos encontrar otras menos habituales, aunque interesantes, como las alteraciones del lenguaje, mas alla de la bien conocida disartria cerebelosa. Las diferentes combinaciones en que pueden aparecer los sintomas, especialmente cuando no se acompañan de ataxia, hacen de este cuadro un verdadero reto para el clinico. Casos clinicos. Se presentan dos pacientes, de 2 y 4 años, con clinica, pruebas de laboratorio y neuroimagen compatibles con cerebelitis aguda parainfecciosa, que asociaron una llamativa alteracion del lenguaje, uno en forma de mutismo cerebeloso y otro en forma de hipofluencia y agramatismo, y este ultimo cursaba ademas en ausencia de ataxia. La evolucion de ambos casos fue buena, y persistieron leves alteraciones del habla en el seguimiento posterior. Conclusiones. Casos como estos amplian el espectro de manifestaciones clinicas de la cerebelitis aguda. Cada vez cobra mayor importancia la participacion del cerebelo en procesos neurocognitivos como el lenguaje y, aunque muchos aspectos son aun especulativos, alcanzar a definir su verdadero papel tendra una repercusion en el diagnostico, el tratamiento y el pronostico a largo plazo de estos pacientes.

[TSC2/PKD1 contiguous gene deletion syndrome]. / Síndrome de deleción de genes contiguos TSC2/PKD1.

The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.

[Fast and spectacular clinical response to plasmapheresis in a paediatric case of anti-NMDA encephalitis]. / Respuesta clinica rapida y espectacular a plasmaferesis en un caso pediatrico de encefalitis anti-NMDA.

INTRODUCTION: Autoimmune encephalitis against N-methyl-D-aspartate (NMDA) receptors is being diagnosed more and more frequently in the paediatric age. It should be suspected in children with psychiatric symptoms, encephalopathy, abnormal movements or epileptic seizures. Paraneoplastic cases are less frequent than in adults. CASE REPORT: We report the case of a boy, 2.5 years of age, with subacute encephalopathic signs and symptoms and epileptic seizures followed by behaviour disorders, neurological regression, dyskinesias and insomnia. Results of a cerebrospinal fluid study were normal, the magnetic resonance scan of the head revealed a focal periventricular lesion and diffuse leptomeningeal uptake; moreover, the serial electroencephalograms showed high-amplitude delta activity interspersed with generalised intercritical epileptiform activity. The patient was given empirical treatment with high doses of corticoids and intravenous immunoglobulins with no response. After showing up positive for antibodies against the NMDA receptor, plasmapheresis was begun, which led to his swift and spectacular recovery. After more than 18 months' follow-up, his sequelae are limited to mild behavioural and language alterations. He has had no relapses and has not needed any kind of maintenance treatment. CONCLUSIONS: Anti-NMDA encephalitis is a treatable disorder and, sometimes, the first evidence of an underlying neoplasia, which makes its early recognition and treatment essential. Treatment of the non-paraneoplastic forms are based on immunotherapy: glucocorticoids, intravenous immunoglobulins, plasmapheresis and immunosuppressants. Plasmapheresis can bring about a fast, spectacular improvement.

[Choreoathetosis after Herpes simplex encephalitis]. / Coreoatetosis tras encefalitis herpética.

After Herpes simplex encephalitis, 25% of cases may have a relapse, rarely as a choreoathetosic movement disorder. The anatomic basis for herpes simplex virus encephalitis-associated movement disorders remains poorly understood, but the hypothesis is that it may be due to a post-infectious immune-mediated process. We report an 8-month-old boy, with herpes simplex encephalitis type 1, who started with an extrapyramidal Syndrome, presenting with choreoathetosis and ballistic movements, three weeks after onset. These new symptoms were attributed to a post-infectious immune-mediated process. We treated our patient with corticosteroids at high dose and gamma-globulins, in addition to a new course of Acyclovir. Sedation was required to control the intense choreoathetosic movements. Tetrabenazine was also tried, unsuccessfully. We studied a mutation on the toll like receptors (TLR3), which has been related to susceptibility for the disease, which was negative.

[Infantile cerebral palsy: the importance of population registers]. / Parálisis cerebral infantil: importancia de los registros poblacionales.

INTRODUCTION: Cerebral palsy (CP) is the most common cause of motor disability in the paediatric age. For several decades, a number of developed countries have kept registers that have been used to conduct population-based studies of CP. AIM. To determine what methodology is needed to keep a register of CP and in what ways it can be applied. DEVELOPMENT: CP registers came into being as a means to monitor the prevalence of CP. Today they have become useful tools for organising health care services, conducting aetiological studies on CP, evaluating therapeutic interventions and assessing patients' quality of life. Setting up a register involves having an aim and a set of eligibility/exclusion criteria that have both been clearly defined beforehand. The quality of the register depends on its continuity, which means that there must be economic and human resources available to ensure long-term planning and the constant incorporation of new patients. Projects that are coordinated among several centres provide a greater study population and favour the utilisation of a common terminology. CONCLUSIONS: The deficits associated to CP, together with its chronicity and the medical, social and educational implications it gives rise to, make it an extremely important health issue today. The ultimate aim of studies on CP should be to improve patients' quality of life and promote their full integration into the world around them.

[Temporal lobe epilepsy. Aetiological classification in 61 paediatric patients]. / Epilepsia del lóbulo temporal. Clasificación etiológica en 61 pacientes en edad pediátrica.

INTRODUCTION: There are very few studies on the aetiology of temporal lobe epilepsy (TLE) in childhood. The purpose of the present study is to analyse the data of 61 children diagnosed with TLE, in order to describe the aetiology of TLE in children seen in a neuropaedriatic clinic. We also discuss the currently proposed classification. PATIENTS AND METHODS: A retrospective analysis was carried out on patients diagnosed with TLE. Patients consisted of 61 children less than 15 years old. RESULTS: Patients were classified into three groups: Group 1 (symptomatic temporal lobe epilepsy) consisted of 25 patients (40.98 %) with any temporal lesion on neuroimaging (tumours, malformations or infections) or significant history; Group 2 (Mesial temporal sclerosis) consisted of 17 patients (27.86 %), a history of simple and complex febrile seizure were common in this group; and Group 3 (Cryptogenic epilepsy) consisted of 19 patients (31.15 %) with no abnormalities on neuroimaging or significant history. CONCLUSION: To our knowledge, this is the largest paediatric series of childhood new-onset TLE assessed only by MRI in the literature. We have modified the previous aetiological classification in order to make the groups more realistic.

[Cerebral palsy: the concept and population-based registers]. / Parálisis cerebral: concepto y registros de base poblacional.

INTRODUCTION: Cerebral palsy (CP) is the most common cause of motor disability in the paediatric age. For several decades, a number of developed countries have kept registers that have been used to conduct population-based studies of CP. In Spain, however, little attention has been paid to the epidemiology of CP. AIM: To review the concept of CP today and to stimulate greater interest in researching into CP based on the experience of other countries. DEVELOPMENT: The different definitions of CP cover motor sequelae secondary to an isolated brain injury that occurs in a developing brain. CP registers were started as a means of monitoring the prevalence of CP and planning suitable care for patients. Over the last decade projects have been carried out that involve the coordinated efforts of several centres; this provides a larger population for study and reduces the chances of confusion with respect to the terminology employed. In this regard, one notable line of work is that of the European CP group (SCPE), which gathers information about children with CP in 15 countries. Spain has been taking part in this project since 2003 through a group of researchers from the Hospital 12 de Octubre in Madrid. CONCLUSIONS: From the very definition of the disorder, CP is a complex condition. A population-based study of CP in Spain should help to arouse a renewed interest in this condition in our country.

[Spinal epidural abscess in a patient with septicaemia]. / Absceso epidural vertebral en un paciente con septicemia.

INTRODUCTION: Spinal epidural abscess is a rare entity requiring early diagnosis and treatment. Sepsis is a factor with an unfavourable prognosis. CASE REPORT: We report the case of a 57 year old female with acute low back pain who was admitted to hospital suffering from a state of septic shock and multiple organ failure secondary to an infection disseminated by Staphylococcus aureus, which was treated early on with vancomycin. The probable source of infection was assumed to be necrotizing fasciitis of the left arm. Once the acute phase had been overcome, serious paraparesis became apparent and this led to magnetic resonance imaging of the spine being carried out, the results of which showed the existence of a lumbar spondylodiscitis with associated epidural abscess. CONCLUSION: In patients with sepsis and some previous symptom that arouses suspicion, it is important to consider this possible diagnosis, since treatment with antibiotics alone does not manage to prevent neurological complications in all cases.

[Unilateral isolated paralysis of the soft palate: a case report and a review of the literature]. / Parálisis aislada unilateral del velo del paladar: presentación de un caso y revisión de la literatura.

INTRODUCTION: Unilateral isolated paralysis of the soft palate is a rare clinical entity. CASE REPORT: We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and pharyngeal sensitivity. All the complementary studies, including magnetic resonance, lumbar puncture and viral serology tests, were normal. There are 28 similar cases in the literature, with the following characteristics: acute onset, appearing in infancy (96%), predominance in males (79%), recent respiratory infection (35%) and an excellent prognosis for recovery (85%). CONCLUSION: This is probably a case of acute cranial mononeuropathy with a viral aetiology

[Periodic lateralised epileptiform discharges as a form of presentation of neurosyphilis]. / Descargas epileptiformes lateralizadas y periódicas como forma de presentación de neurosífilis.

INTRODUCTION: Neurosyphilis is a recognised cause of epileptic seizures, but its association with periodic lateralised epileptiform discharges (PLED) has been described only rarely, in spite of the fact that it gives rise to acute vascular lesions. CLINICAL CASE: We report the case of a male patient who was diagnosed as having meningovascular syphilis after the onset of tonic clonic epileptic seizures and PLED in the left frontotemporal region. The initial neurological exploration revealed a syndrome of confusion and mild mixed, but predominantly motor, dysphasia. In complementary tests, the most noteworthy features were positive luetic serology in the blood and in cerebrospinal fluid (CSF), which was confirmed by means of treponemic assays. The patient was treated with penicillin for two weeks. The study was completed with a magnetic resonance (MR) brain scan that showed a small left temporal infarction, which was the origin of the clinical and electrical convulsive activity. The patient s evolution was satisfactory, with an improvement in the language disorder, and the seizures were controlled after the administration of phenytoin. The control electroencephalogram (EEG) that was performed later only showed a slowing in the known injured area. CONCLUSIONS: PLED are an infrequent electroencephalographic pattern whose appearance has been linked with acute brain lesions, mainly with strokes, tumours and meningoencephalitis. When, exceptionally, they appear as a consequence of an ischemia secondary to meningovascular syphilis their significance, clinical features and prognosis do not differ from other causes of a cerebrovascular disease.