Manejo de las lesiones atípicas del tronco del encéfalo en niños con neurofibromatosis tipo 1 / Management of atypical lesions of the brain stem in children with neurofibromatosis type 1

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Distrofia simpático-refleja y mioclonías: una asociación infrecuente / Complex regional pain syndrome and myoclonus: an uncommon combination

La distrofia simpático-refleja es una patología infrecuente en la edad pediátrica, que no se relaciona con un trastorno orgánico subyacente y que requiere un tratamiento multidisciplinar debido al importante componente psicosomático que lo acompaña y al difícil control de los síntomas en este cuadro. Por otro lado, las mioclonías tienen un amplio espectro de diagnósticos diferenciales, siendo muy importante descartar enfermedades neurológicas y degenerativas subyacentes. Presentamos el caso de un varón adolescente con dolor neuropático en una localización atípica y con una presentación compleja al asociar mioclonías y distonías a lo largo de su evolución, que obliga a la revisión de ambos cuadros y a realizar un amplio diagnóstico diferencial (AU)

Complex regional pain syndrome (CRPS) is quite uncommon in paediatric patients.There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible.We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias.This made the diagnosis harder and widened the aetiological spectrum (AU)

[Complex regional pain syndrome and myoclonus: an uncommon combination]. / Distrofia simpático-refleja y mioclonías: una asociación infrecuente.

Complex regional pain syndrome (CRPS) is quite uncommon in paediatric patients. There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible. We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias. This made the diagnosis harder and widened the aetiological spectrum.

Meningitis pediátrica. ¿Cuándo podemos estar tranquilos? / Pediatric meningitis. When can we be calm?

Introducción: Desde que en 1980 se publicó la Escala de Boyer, se han propuesto muchas herramientas clínicas para distinguir entre meningitis viral (MV) y meningitis bacteriana(MB). En los últimos años se ha validado el Bacterial Meningitis Score (BMS), instrumento que identifica a los niños con muy bajo riesgo de padecer MB. Nuestro objetivo es determinarla eficacia de la Escala de Boyer modificada con la proteína C reactiva (PCR), y validar en nuestra población pediátrica el BMS. Métodos: Se realizó un análisis retrospectivo de los niños de3 meses a 15 años de edad hospitalizados con el diagnóstico de meningitis entre 1994 y 2007. Se aplicó la Escala de Boyer, añadiéndose una puntuación correspondiente a la PCR. La sensibilidad y la especificidad se calcularon en los puntos de corte determinantes para la toma de decisiones (puntuaciones 3 y 5). En el caso del BMS, se valoró su sensibilidad y especificidad a partir del cumplimiento de los criterios de inclusión propuestos por sus autores. Resultados: En total se incluyeron 145 casos, de los cuales46 fueron MB y 99 MV. Se determinó la PCR en 73 de ellos. La modificación de la Escala de Boyer con la PCR aumentó la sensibilidad en el punto de corte 5 de un 83 a un 100%, permaneciendo la sensibilidad en el 100% en ambos casos. En el caso del BMS, el cumplimiento de al menos uno de los cinco criterios de riesgo identificó los casos de MB con una sensibilidad del 100% y una especificidad del 61,22%. Conclusión: Una puntuación de más de 5 en la Escala de Boyer modificada con la PCR identifica de forma precisa los casos de meningitis de etiología bacteriana en nuestro medio. El BMS es muy eficaz para determinar los casos de muy bajo riesgo de MB. La combinación de ambas herramientas resulta muy útil en el manejo de los pacientes con sospecha de meningitis (AU)

Introduction: Since Boyer's Score was published in 1980; many clinical tools have been proposed to distinguish between viral meningitis (VM) and bacterial meningitis (BM). Recently, it has been validated the Bacterial Meningitis Score (BMS), an instrument that identifies children at very low risk of BM. Our objective is to determine the accuracy of Boyer's Score modified with C-reactive protein (CRP) and to validate the BMS in our pediatric population. Methods: A retrospective study analysis of children (aged from 3 months to 15 years) hospitalized with a meningitis diagnosis in our pediatric center between 1994 and 2007. We calculated Boyer's Score and added a punctuation corresponding to CRP. The sensitivity and specificity were estimated in the scores cut off point that determine the taking of decisions (punctuations 3 and 5). We applied the BMS to all children using the inclusion criteria proposed by the authors, and calculated the sensitivity and specificity. Results: Among the 145 cases included, 46 had BM and 99 had VM. CRP was determined in 73 of them. The modification of Boyer's Score with CRP increased the sensibility of punctuation 5 from 83% to 100%; the specificity of this punctuation remained in 100% even if CRP was included or not. In the case of BMS, the fact of presenting at least one of the 5 criteria identified the cases of BM with a sensibility of 100% and a specificity of 61.22%. Conclusion: A punctuation of more than 5 in Boyer's Score modified with CRP identifies with high efficacy the cases of bacterial etiology. The BMS is very accurate for the identification of very low risk cases of BM. The combination of both scales is very useful in the management of patients with suspicion of meningitis ( AU)

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)]. / Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.(a) revisión (CIE-9), 5.(a) edición (2006).

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.

Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, novena revisión (CIE-9), quinta edición (2006) / Coding in neuropediatrics based on the international classification diseases, 9 th revision (ICD-9), 5 th edition ( 2006)

Objetivos. Análisis y adaptación consensuada de la codificación de la Clasificación Internacional de Enfermedades, 9.ª revisión (CIE-9), a los motivos de consulta, diagnósticos y procedimientos en neurología pediátrica. Materiales y métodos. Se seleccionan los motivos de consulta, diagnósticos y procedimientos más frecuentes en neuropediatría y se les asignael código más apropiado de la CIE-9-MC (5.ª ed.) según las normas de codificación de dicho sistema. Se han agrupado las patologías por secciones, las cuales se han adjudicado a los distintos miembros del grupo de trabajo (13 neurólogos pediátricos de 10 hospitales de Madrid capital y área periférica). Resultados. Se exponen en www.neurologia.com/cie-9. Se han asignadocódigos de la CIE-9-MC (5.ª ed.) a 158 motivos de consulta, 886 diagnósticos, 73 procedimientos diagnósticos y 53 procedimientos terapéuticos. Siempre se ha intentado buscar el código de la CIE-9 más apropiado para los distintos diagnósticos.No se han inventado códigos, aunque el grupo de trabajo se ha tomado algunas libertades de interpretación que respetan la filosofía general de la CIE-9-MC y que se describen en el texto. Conclusión. La creación de esta adaptación de la CIE-9 potenciará la codificación diagnóstica en los servicios de neurología pediátrica, dotándolos además de una herramienta útil parala elaboración de bases de datos que permitan el análisis retrospectivo de la información, y compartirla entre los distintos centros

Aims. To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensusbasis, to ‘reasons for medical consultation’, ‘diagnoses’ and ‘procedures’ in child neurology. Materials and methods. The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned themost appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system’s coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). Results. Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the workinggroup did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. Conclusions. The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to beretrospectively analyzed and shared by the different health centers

[Larsen syndrome: two reports of cases with spinal cord compromise]. / Síndrome de Larsen: a propósito de dos casos con afectación medular.

INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

Síndrome de Larsen: a propósito de dos casos con afectación medular / Larsen syndrome: Two reports of cases with cord compromise

Introducción. El síndrome de Larsen se caracteriza por luxaciones congénitas irreductibles de múltiples articulaciones, así como por deformidad podálica marcada. La cara de estos pacientes es aplanada, con la nariz corta, el puente ancho y deprimido y la frente prominente. Nos proponemos describir en esta nota clínica dos casos que cursaron con afectación medular.Casos clínicos. Caso 1: niña de 18 meses con luxación congénita de rodillas y caderas. Facies aplanada, raíz nasal hundida, boca en carpa. La resonancia magnética de la columna mostraba cifosis cervical grave secundaria a malformación e hipoplasia de cuerpos vertebrales cervicales e importante compresión medular. Clínicamente, se acompañaba de signos clínicos deprimera motoneurona, de forma marcada en los miembros inferiores. Caso 2: varón de 14 años con facies característica y luxación de la cabeza del radio. Presentaba amiotrofia de la musculatura de la mano derecha y signos clínicos de la segunda motoneuronapor daño neuronal secundario a malformaciones vertebrales. Conclusiones. El síndrome de Larsen es una osteocondrodisplasia infrecuente. La alteración de la columna vertebral es habitual, y puede ocasionar compresión medular de repercusión clínica variable, que precise intervención quirúrgica en los primeros años de vida

Introduction. Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. Case reports. Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformationand hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right handand clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. Conclusions. Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient’s life

Migraine symptoms related to the percutaneous closure of an ostium secundum atrial septal defect: report of four paediatric cases and review of the literature.

Several publications have recently suggested that atrial septal defect may be associated with the physiopathology of headache with migraine-type characteristics. We describe four previously asymptomatic paediatric patients with atrial septal defect who underwent percutaneous Amplatzer septal occluder device implantation and who subsequently developed symptoms compatible with migraine headache. The cases had normal echocardiograms after the intervention and a benign course with headache improvement after several weeks or months. There are paediatric patients with atrial septal defect who may dramatically develop migraine symptoms with or without aura following percutaneous correction of their defect. Large paediatric studies are needed to offer accurate prognoses for children and their families. The possibility of using clopidogrel to treat this type of headache is subject to debate.

Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso / Leukoencephalopathy with vanishing white matter: a case report

Introducción. La leucoencefalopatía con sustancia blancaevanescente es una enfermedad hereditaria de transmisión autosómicarecesiva individualizada en 1997. Más tarde se identificaronlas anomalías genéticas responsables: diferentes mutaciones encualquiera de los cinco genes que codifican las cinco subunidadesdel factor de iniciación de la traducción eIF2B. Desde entonces, elespectro clínico de esta entidad se ha mostrado mucho más amplioy su frecuencia mucho mayor de lo imaginado inicialmente. Presentamosun caso de la forma clínica clásica, el primero segúnnuestro conocimiento publicado hasta la fecha en España. Casoclínico. Niña de 5 años que desde hace dos presenta una inestabilidadde la marcha recientemente agravada tras un traumatismo craneoencefálicoleve. En la exploración presenta una ataxia cerebelosaglobal y una espasticidad generalizada. La resonancia magnética(RM) muestra una afectación difusa y simétrica de la sustanciablanca cerebral con la presencia de cavidades en las que la intensidad de la señal, así como el espectro protónico, son similares alos del líquido cefalorraquídeo. El estudio genético revela una mutacióndel gen que codifica eIF2B-épsilon. Conclusiones. Una RMsugerente, aun en una presentación atípica, indicaría descartaruna mutación de los genes que codifican eIF2B. Esto posibilitaríael diagnóstico precoz de esta enfermedad, probablemente más prevalentede lo imaginado, lo que permitiría el consejo genético ycontribuiría a establecer un correlato genotipo-fenotipo que permitiríaademás la estimación pronóstica

Introduction. Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease thatwas first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these beingdifferent mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then,the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. Wereport on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. Case report.A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. Theexamination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuseand symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and theproton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes foreIF2B-epsilon. Conclusions. A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutationof the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probablymore prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish agenotype-phenotype correlate that would also make it possible to offer an estimated prognosis

[Leukoencephalopathy with vanishing white matter: A case report]. / Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso.

INTRODUCTION: Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then, the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. We report on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. CASE REPORT: A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon. CONCLUSIONS: A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.

Epidemiología del traumatismo craneal leve en un servicio de urgencias / The epidemiology of head injury in a hospital emergency service

Objetivo: Conocer la epidemiología de los traumatismos craneales (TC) leves en un servicio de urgencias pediátricas mediante un estudio basado en la recogida de datos y su análisis estadístico, ya que su prevención mejorará con el mejor conocimiento de la epidemiología. Material y métodos: Serie de casos. Se elaboró una ficha de recogida de datos. Se efectuó estadística descriptiva. Resultados: La población del estudio estuvo compuesta por 153 pacientes (95 niños y 58 niñas), 94,1 % caucásicos. La madre trabajaba fuera de casa en el 68,6% de los casos. Las condiciones sociales eran desfavorables en un 6,5%. La mayor frecuencia de hermanos fue dos. La franja horaria más frecuente en que se produjeron los TC fue de 11 a 13 horas (24,9%). El lugar más frecuente fue el patio del colegio (19,6%). Del total de TC, un 35,3% se produjo en el domicilio y un 64,7% fuera de éste. En el 26,1% de los casos la lesión fue frontal, y recibieron tratamiento médico y/o cirugía menor el 52,9%. Conclusiones: Los TC leves atendidos son más frecuentes en niños menores de 5 años, varones (62,1%), precedidos de otro accidente en un 32,7% de los casos, y más de uno en el 19,7%. Ocurren con mayor frecuencia fuera del domicilio, siendo los lugares más frecuentes el patio del colegio y los parques. La región frontal fue la más afectada. La atención se realizó en menos de 2 horas en el 68% de los casos. No existieron criterios para efectuar neuroimagen

Objective. To determine the epidemiology of mild head injury by means of a study carried out among children treated in hospital emergency services. Material and methods. We evaluated 153 cases of pediatric head injury diagnosed in our institution. The data were analyzed using descriptive statistics. Results. The series consisted of 95 boys and 58 girls (94.1 % were white). In 68.6% of cases, the mother worked outside the home. The socioeconomic conditions were poor in 6.5%. The most prevalent number of siblings per family was two. Injuries were more frequent between 11:00 and 13:00 hours (24.9%). A large majority of the injuries were produced outside the home (64.7%), with 19.6% occurring at the school playground, while 35.3% occurred at home. Frontal region injury accounted for 26.1% of the cases and 52.9% were treated by medical procedures and/or minor surgery. Conclusions. Mild head injuries were most prevalent among children under 5 years of age and occurred more frequently in boys (62.1 %) than in girls; 32.7% of the children had had a previous head injury, while 19.7% had had more than one. The accidents occurred more frequently outdoors, mainly at the school playground and parks. The frontal region was that most often involved. The children received medical attention within 2 hours in 68% of cases. Neuroimaging was not necessary in our series

Diagnóstico precozde la distrofia muscular deDuchenne mediante screeningneonatal no selectivo / Early diagnosis of Duchenne muscular dystrophy by meand of non-selective neonatal screening

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