Enfermedades neurológicas complejas. Atención neuropediátrica del Hospital Universitario La Paz, de Madrid / Complex neurological diseases. Neuropediatric care of the Hospital Universitario la Paz of Madrid

La neurología pediátrica es una especialidad pediátrica plenamente implantada en España que se encarga de la atención a los niños y adolescentes con problemas neurológicos. En el Hospital Infantil Universitario la Paz se atienden toda la patología neurológica general disponiendo además de varias unidades multidisciplinarias que atienden problemas neurológicos específicos y también aspectos neurológicos de muchas enfermedades raras. Entre ellas destacan las epilepsias refractarias, neurología neonatal, trastornos del sueño, espasticidad grave, trastornos del movimiento, neurofibromatosis NF1, trastornos del neurodesarrollo, parálisis braquial obstétrica, patología neuromuscular, ataxias hereditarias y paraplejía espática familiar (AU)

The paediatric neurology is a specility paediatric fully operational in Spain that is responsible for the care of children and adolescents with neurological problems. At University Children´s Hospital La Paz will attend all general neurologic pathology also having several multidisciplinary units serving specific neurological problems and neurological aspects of many rare diseases. These include refractory epilepsy, neonatal neurology, sleep disorders, severe spasticity movements disorders, neurofibromatosis NF1, neurodevelopmental disorders, congenital brachial palsy, neuromuscular disease, hereditary ataxias and familial spastic paraplegia (AU)

Fibroscopic findings in patients following maxillary osteotomies in orthognathic surgery.

OBJECTIVE: To evaluate the intranasal complications in patients submitted to maxillary Le Fort osteotomy within the orthognathic evaluation through flexible fibroscope, method which is safety, reliable and minimally invasive. MATERIALS AND METHODS: A prospective, systematic non-randomized study is presented with a series of 47 patients who underwent a Le Fort I maxillary osteotomy due to dentofacial deformity between January 2008 and December 2008. The patients who were included underwent an evaluation of nasal respiratory function using a questionnaire designed for this objective, after which a fibroscopic examination was carried out. RESULTS: With regards to the results of the NOSE questionnaire, 4/47 patients had Grade 2 nasal obstruction before the surgery. After the intervention, three improved to a 0-1 grade. 3/47 patients reported snoring during sleep without OSAS that was not modified as a result of the surgery. 2/47 patients presented with sequelae regarding the deviation of the septum, and 1/47 had a luxation of the anterior nasal spine that had not been recorded before the orthognathic surgery. The presence of synechiae was observed in 3/47 cases. A septal perforated mucosa was found in the IV area of the nasal septum. Hypertrophy of the lower turbinate was observed in 4/47 cases. CONCLUSION: The fibroscope procedure is minimally invasive and it does not require local anesthesia or sedation, and it allows the surgeon to carry out an immediate and exhaustive evaluation, on an outpatient basis, of possible septal and nasal sequelae in patients undergoing orthognathic surgery.

Aciduria D-glicérica. A propósito de un caso y revisión de la bibliografía / D-glyceric acidemia: case report and literature review

Introducción: Las acidemias orgánicas son un grupo de enfermedades caracterizadas por la excreción aumentada de ácidos orgánicos en la orina. Dentro de este grupo se encuentra la aciduria D-glicérica, trastorno infrecuente y del que hay pocos casos referidos en la bibliografía médica. Caso clínico: Presentamos el caso de una niña de 2 meses de edad, que acudió a nuestra consulta por la presencia de crisis generalizadas con un patrón electroencefalográfico (EEG) de brote-supresión y posterior retraso psicomotor. Al realizar el cribado de enfermedades metabólicas, se detectaron valores de ácido D-glicérico en orina de 216 m mol/mol creatinina (valores normales: <26), compatibles con aciduria D-glicérica. Las imágenes obtenidas mediante resonancia magnética craneal (hipoplasia del cuerpo calloso y atrofia generalizada) no mostraron hallazgos específicos. En su evolución, la paciente presentó un retraso psicomotor moderado-grave, una diparesia espástica y una epilepsia resistente a fármacos. La aciduria D-glicérica es una entidad con una clínica muy heterogénea; en algunas ocasiones se presenta como un hallazgo casual en pacientes asintomáticos u oligosintomáticos, y en otras en niños con profunda encefalopatía. Se han descrito casos con respuesta parcial a una dieta restringida en fructosa, aunque dicha mejoría clínica no se produjo en el presente caso. Esta etiología se debería plantear en el diagnóstico diferencial de los niños que presenten una encefalopatía progresiva, EEG tipo salva-supresión, hipotonía y epilepsia multifocal (AU)

Introduction: Organic acidemias are a group of diseases characterized by the increased excretion of organic acids in urine. That group includes D-glyceric acidemia, an uncommon disorder, with only a scarce number of cases reported in medical literature. Clinical case: We present the case of a two-month old girl brought to our surgery suffering from generalised seizures with an electroencephalic burst-suppression pattern and subsequent psychomotor retardation. After testing for metabolic diseases D-glyceric acid values in urine of 216 m mol/mol creatinine (nv: <26) compatible with D-glyceric aciduria were objectified. Cranial MR images were obtained (hypoplasia of corpus callosum and generalised atrophy) and did not reveal any specific findings. As the condition progressed, the patient showed moderate-severe psychomotor retardation, spastic diparesis and drug-resistant epilepsy. D-glyceric acidemia is an entity with very heterogeneous clinical manifestations, which in some cases appears as achance finding in asymptomatic or oligosymptomatic patients and in other cases appears in children with profound encephalopathy. There are reports of cases that show a partial response to fructose-restricted diets, but that clinical improvement did not occur in the case of our patient. This a etiology should be considered in the differential diagnosis of children who present with progressive encephalopathy, a burst suppression-type EEG, hypotonia and multifocal epilepsy (AU)

Luxación crónica recidivante. Tratamiento: osteotomía glenotemporal de Norman / Chronic recurring dislocation treatment: Norman glenotemporal osteotomy

Introducción: Varios procedimientos quirúrgicos se han utilizadopara limitar la apertura mandibular en pacientes con luxaciones recidivantesde la articulación temporomandibular (ATM). Éstas incluyen la inyecciónde agentes esclerosantes y el bloqueo mecánico mandibular. Otros métodosse basan en bloquear la traslación del cóndilo mandibular mediante la fracturadel arco zigomático o mediante injerto óseo con aumento de la eminenciaarticular y la creación de un impedimento mecánico usando mallade vitalio o tornillos de acero inoxidable. Objetivo: Evaluar la experienciade los autores en el tratamiento de las luxaciones recidivantes de mandíbulacuando se tratan ambos componentes: el óseo (eminencia) y el muscular(pterigoideo lateral). Material y métodos: 25 pacientes afectados de luxaciónrecidivante (>3episodios/año) entre Enero 1997- Agosto 2008 con unaedad media de 30 años; 21 de ellos son tratados de manera primaria y 4 porrecidivas. Se realiza la técnica quirúrgica bajo anestesia general, incidiendoa lo largo del arco zigomático con una disección roma hasta exponer la paredanterior de la cápsula articular. Colocación de placa en “L” con fijación bicorticalcon tornillos. Resultados: Tras seguimiento radiológico y clínico tras laintervención (de 6 a 36 meses), se objetiva la ausencia de pérdidas de injerto,sin recidivas, remisión completa o parcial del dolor, buena apertura oraly ausencia de complicaciones importantes. Conclusión: La técnica descritapara restringir los movimientos de la ATM en casos de la dislocación crónicaes relativamente simple, normalizando la función articular de forma inmediatasin necesitar tratamiento suplementario(AU)

Background. Various surgical procedures have been usedto limit mandible opening in patients with recurrent dislocations ofthe temporo mandible joint (TMJ). These include intracapsularinjection of sclerosing agents and tethering of the mandible. Othermethods include obstruction of the condylar translation bydownfracturing the zygomatic arch or by bone graft augmentationof the tuberculum and creating a mechanical impediment usingVitallium mesh or a stainless steel pin. Objective. To evaluate theauthor’s experience in the treatment of recurrent dislocation of themandible when both components, the osseous (eminence) and themuscular one (lateral pterigoideum), are treated. Material andmethods. From January 1997 to August 2008, twenty-five patientes,30 years old of averaged age, are affected by recurrent luxation (>3episodes/year). Twenty-one of them are treated primarily and fourof them because of recurrences. The operative procedure is developedunder general anesthesia, incising along the zygomatic arch usingblunt dissection so that the front wall of the articular capsule canbe exposed completely. An L-shaped plate is fixed bicortically withpins. Results. Radiological and clinical follow-up after the surgicaltreatment (6 to 36 months postoperatively) manifest the absenceof lost graft, no recurrence, completed or partial pain remission,adequate mouth aperture and absence of important complications.Conclusion. The technique described for restricting TMJ movementsin cases of chronic dislocation is relatively simple. The function ofthe TMJ was immediately normalized and no supplementarytreatment was necessary(AU)

Fracaso de la osteosíntesis mandibular. Consideraciones biomecánicas y tratamiento. A propósito de dos casos clínicos / Mandibular osteosynthesis failure. Biomechanical and therapeutic considerations. Two clinical cases

Introducción: El fracaso de la osteosíntesis mandibular no es unasituación frecuente. El objetivo de este artículo es determinar su etiología yesbozar su tratamiento.Material y métodos: Se presentan dos casos clínicos en los que se produjo unfracaso de la osteosíntesis y se indica su tratamiento.Discusión: Se analiza la etiología del fracaso y cómo, con la terapéutica adecuada,se consigue una regeneración ósea. Un conocimiento exacto de lascaracterísticas biomecánicas del sistema masticatorio, ayuda a abordar estapatología.Conclusión: Una fijación rígida con placas tipo “lock” junto a injerto esponjosoautólogo de cresta iliaca es la clave del éxito terapéutico(AU)

Introduction: Mandibular osteosynthesis failure is notcommon. The purpose of this article is to examine the etiology andtreatment of mandibular osteosynthesis failure.Material and methods: Two clinical cases of mandibularosteosynthesis failure and its treatment are reported.Discussion: The etiology of osteosynthesis failure and boneregeneration with suitable treatment is analyzed Exact knowledgeof the biomechanical characteristics of the masticatory system isuseful in approaching this condition.Conclusion: Rigid fixation with locking plates and autologous graftsof iliac crest cancellous bone are the key to therapeutic success(AU)

The Guyuron retroauricular island flap for eyelid and eye socket reconstruction in children.

A complete loss of palpebral tissue can occur following a congenital malformation, tumour resection or traumatic injury. This article presents the authors' clinical experience with upper eyelid reconstruction in children using the Guyuron retroauricular island flap. Five cases of severe eyelid defects in children aged between 5 days and 10 years of age (three patients following enucleation and two presenting upper eyelid coloboma of approximately two-thirds of the upper eyelid surface) were treated using this technique. In all cases an optimal closure of the eyelid fissure was achieved and corneal exposure clinically improved. On average, 15% of the initial flap surface was lost. Only one major complication (40% flap necrosis) was reported in the postoperative period. This reconstructive technique can provide complete eyelid reconstruction leaving an inconspicuous scar and causing limited morbidity at the donor zone.

Maxillomandibular osteomyelitis in osteopetrosis. Report of a case and review of the literature.

INTRODUCTION: Osteopetrosis is a rare hereditary group of bony displasias. They range from a devastating metabolic disease (including severe malignant infantile osteopetrosis) to other conditions with a more benign phenotype (autosomal dominant osteopetrosis I and II). CASE REPORT: Several case reports have been published of infectious complications affecting the mandible but maxillary affectation is quite rare. We present the case of a 23-year-old woman with a malignant recessive form of osteopetrosis complicated by repeated episodes of osteomyelitis (caused by actinomyces) of the mandible and maxilla.

Metástasis óseas como forma de presentación en el carcinoma hepatocelular avanzado / No disponible

No disponible

Anquilosis bilateral de ATM en paciente con artritis idiopática juvenil / Bilateral temporomandibular joint ankylosis in patients with juvenile idiopathic arthritis

No disponible

No disponible

Carcinoma cutáneo de células de Merkel. Presentación de un caso y revisión de la literatura / Cutaneous Merkel cell carcinoma. Case report and literature review

El carcinoma de células de Merkel, constituye una variedad infrecuentede cáncer cutáneo, de origen neuroendocrino, que clásicamentese describe, como la malignidad cutánea de peor pronóstico. Se originaa partir de las células de Merkel o receptores cutáneos de presión. Presentaun patrón infiltrativo dermo-linfático así como extensión linfática nodal ydiseminación hematógena. Presenta numerosas similitudes con el carcinomapulmonar de células pequeñas, con una sensibilidad intrínseca a laquimio-radioterapia y un gran potencial metastático. Los mejores resultadosse obtienen cuando se combina un diagnóstico precoz y el tratamientocombinado con cirugía- radio y quimioterapia. La principal dificultad quepresentan estos tumores es la avanzada edad de la población en que sepresentan y la localización de los mismos, que en ocasiones limitan lasopciones terapéuticas disponibles. Presentamos un caso de carcinoma decélulas de Merkel facial, tratado con cirugía y radioterapia. Se realiza unarevisión de la literatura (AU)

Merkel-cell carcinoma is a rare skin cancer ofneuroendocrine origin, which has been described as the mostaggressive skin malignancy. The tumor arises from the Merkel cells,or skin pressure receptors. It has an infiltrative growth pattern andspreads by the lymphatic vessels and blood. It is similar to small celllung carcinoma, with an intrinsic sensitivity to chemo-radiotherapyand a remarkable tendency to metastasize. The best treatmentoutcomes are obtained with early diagnosis and a combination ofsurgery, chemotherapy, and radiotherapy. A clinical case of Merkelcell carcinoma of the face treated with surgery and radiotherapy isreported and the literature is reviewed (AU)

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multiplex ligation-dependent probe amplification (MLPA) is a new technique for measuring sequence dosage, allowing large number of samples to be processed simultaneously and thus significantly reducing laboratory work. We have assessed its performance for the detection of subtelomeric rearrangements by comparing the results with those of our previous multiprobe fluorescence in situ hybridization (FISH) assay. We have tested 50 patients with idiopathic MR, dysmorphic features, congenital malformations, and/or familial history of MR. Our results show a high degree of concordance between the two techniques for the 50 samples tested. On the basis of these results, we conclude that MLPA is a rapid, accurate, reliable, and cost-effective alternative to FISH for the screening of subtelomeric rearrangements in patients with idiopathic MR.

[Is benign childhood paroxysmal eye deviation a non-epileptic disorder?]. / Desviación ocular paroxística benigna infantil: un trastorno no epiléptico?

INTRODUCTION: Benign childhood paroxysmal eye deviation (BCPED) is classified as a 'non-epileptic paroxysmal disorder'. CASE REPORTS: We report the cases of four patients aged between 6 months and 2 years, who suffered brief episodes of upward conjugate gaze deviation, with no clonic movements or associated cognitive deterioration. These episodes, which lasted several seconds, appeared in short repeated bouts that became worse with fatigue. Results of the neurological exploration, laboratory examinations, neuroimaging (CAT, MRI, brain ultrasonography) and a neurophysiological study, which included EEG-video monitoring and EEG performed during the waking state, were all normal. A nocturnal polysomnographic study was later conducted for 7-8 hours and EEG, EMG and EOG readings were recorded. The trace showed focal or generalised paroxysmal discharges during non-REM sleep in the form of polyspike-wave and spike-wave complexes. Sleep analysis (Reschstaffen and Kales) showed only a shortened REM sleep latency, with no clear clinical meaning. Several cases have been reported in the literature with identical symptoms and normal results in the diagnostic tests, including daytime polysomnography. CONCLUSIONS: The appearance of these epileptic anomalies in the nocturnal study makes it necessary to perform a complete nocturnal polysomnography. In spite of these findings, BCPED courses favourably and has a benign prognosis both with and without antiepileptic treatment. We therefore believe that BCPED should be classed within the group of 'benign idiopathic epilepsies of childhood'.

Desviación ocular paroxística benigna infantil: ¿un trastorno no epiléptico? / Is benign childhood paroxysmal eye deviation a non-epileptic disorder?

Introducción. La desviación ocular paroxística benigna infantil (DOPBI) se clasifica como un 'trastorno paroxístico no epiléptico'. Casos clínicos. Presentamos cuatro pacientes de entre 6 meses y 2 años de edad, con breves episodios de desviación conjugada de la mirada hacia arriba, sin movimientos clónicos ni deterioro cognitivo asociado. Estos episodios, con una duración de varios segundos, aparecieron en salvas y se incrementaron con la fatiga. La exploración neurológica, los exámenes de laboratorio, neuroimagen (TAC, RM, ecografía cerebral) y estudio neurofisiológico, incluido registro vídeo-EEG y EEG durante la vigilia, fueron todos ellos normales. Posteriormente, se practicó estudio polisomnográfico nocturno durante 7-8 h, y se registró simultáneamente EEG, EMG y EOG. El trazado mostró descargas paroxísticas, focales o generalizadas, durante el sueño no REM en forma de complejos punta-onda y polipunta-onda. El análisis de sueño (Rechtschaffen y Kales) mostró únicamente una latencia de sueño REM acortada, sin un claro significado clínico. En la bibliografía se han descrito varios casos con síntomas idénticos y normalidad de las pruebas diagnósticas, incluida la polisomnografía diurna. Conclusiones. El hallazgo de estas anomalías epilépticas en el estudio nocturno exige la práctica de polisomnografía nocturna completa. A pesar de estos hallazgos, la DOPBI tiene un curso favorable y un pronóstico benigno con o sin tratamiento antiepiléptico. Por ello, creemos que la DOPBI debería incluirse en el capítulo de 'epilepsias benignas idiopáticas infantiles' (AU)

Introduction. Benign childhood paroxysmal eye deviation (BCPED) is classified as a ‘non-epileptic paroxysmal disorder’. Case reports. We report the cases of four patients aged between 6 months and 2 years, who suffered brief episodes of upward conjugate gaze deviation, with no clonic movements or associated cognitive deterioration. These episodes, which lasted several seconds, appeared in short repeated bouts that became worse with fatigue. Results of the neurological exploration, laboratory examinations, neuroimaging (CAT, MRI, brain ultrasonography) and a neurophysiological study, which included EEG-video monitoring and EEG performed during the waking state, were all normal. A nocturnal polysomnographic study was later conducted for 7-8 hours and EEG, EMG and EOG readings were recorded. The trace showed focal or generalised paroxysmal discharges during non-REM sleep in the form of polyspike-wave and spike-wave complexes. Sleep analysis (Rechtschaffen and Kales) showed only a shortened REM sleep latency, with no clear clinical meaning. Several cases have been reported in the literature with identical symptoms and normal results in the diagnostic tests, including daytime polysomnography. Conclusions. The appearance of these epileptic anomalies in the nocturnal study makes it necessary to perform a complete nocturnal polysomnography. In spite of these findings, BCPED courses favourably and has a benign prognosis both with and without antiepileptic treatment. We therefore believe that BCPED should be classed within the group of ‘benign idiopathic epilepsies of childhood (AU)

[Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects]. / Epilepsia mioclónica severa de la infancia. Aspectos clínicos y paraclínicos.

INTRODUCTION: Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process. PATIENTS AND METHODS: The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages. RESULTS: In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs. CONCLUSIONS: The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype genotype correlation of the disease.