[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

[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]. / Hipomielinización central, hipogonadismo hipogonadotrófico e hipodontia: una nueva forma de leucodistrofia.

AIM: To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. CASE REPORT: A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, with tremor and dysmetria. She can't neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies. CONCLUSION: The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years.

Hipomielinización central, hipogonadismo hipogonadotrófico e hipodontia: una nueva forma de leucodistrofia / Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: A new leukodystrophy

Objetivo. Presentar el caso de una paciente con un cuadro de encefalopatía lentamente progresiva, con ataxia, hipomielinización central, hipodontia e hipogonadismo hipogonadotropo, síndrome 4H, de reciente descripción, del que sólo hay publicados cuatro casos en la bibliografía. Caso clínico. Niña de 14 años que, tras un desarrollo psicomotor normal hasta los 15 meses de edad, presentó un deterioro neurológico lentamente progresivo. En la actualidad, a los 14 años de edad, presenta una importante ataxia cerebelosa, que le impide la deambulación y la bipedestación sin apoyo, temblor y dismetría. Ha perdido el control de los esfínteres y presenta un lenguaje escaso, construyendo frases de un máximo de dos palabras con una comprensión verbal aceptable. Presenta una ausencia completa de caracteres sexuales secundarios e hipodontia definitivade los incisivos centrales superiores. La resonancia magnética cerebral muestra una hipomielinización difusa, que se confirma con los estudios de difusión y espectroscopia. Conclusiones. Las leucodistrofias hipomielinizantes, con defecto en la producción de mielina, suponen un reto diagnóstico para el clínico. Además de las enfermedades clásicas con hipomielinización central difusa, se han descrito en los últimos años algunas nuevas leucoencefalopatías con hipomielinización

Aim. To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. Case report. A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, withtremor and dysmetria. She can’t neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies.Conclusion. The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years

Agenesia del ala mayor del esfenoides, una causa excepcional de exoftalmos pulsátil / Absence of the greater sphenoid wing: an exceptional etiology of pulsatory exophthalmos

No disponible

Neurocisticercosis / Neurocysticercosis

El término neurocisticercosis hace referencia a la invasión del neuroeje por la forma larvaria de la Taenia solium. Constituye la parasitosis más frecuente del sistema nervioso central. Actualmente se presenta como una enfermedad emergente en nuestro medio, en relación con el aumento de la inmigración procedente de áreas endémicas, por lo que debería considerarse dentro del diagnóstico diferencial ante un paciente con clínica y antecedentes epidemiológicos compatibles. A pesar de tratarse de una enfermedad de elevada prevalencia mundial, no existe consenso sobre su manejo terapéutico. Se presenta el caso de un varón de 13 años, procedente de Ecuador, que acude a nuestro centro tras presentar un episodio de crisis convulsiva generalizada(AU)

The term neurocysticercosis refers to the invasion of the neuroaxis by the larval form of Taenia solium. It is the most common parasitic disease of the central nervous system. It is currently an emerging disease in our general population as a result of the increased immigration from endemic areas. Thus, it should be considered in the differential diagnosis in patients with compatible clinical and epidemiological histories. Despite the fact that this disease is highly prevalent worldwide, there is no consensus concerning its therapeutic management. We present the case of a 13-year-old boy from Ecuador who was brought to our hospital after a generalized seizure(AU)

[Modified aspiration needle muscular biopsy in neuromuscular diseases. Use and advantages over open surgical biopsy]. / Estudio de las enfermedades neuromusculares por biopsia percutánea mediante aguja con aspiración modificada. Utilidad y ventajas sobre la biopsia quirúrgica.

OBJECTIVE: To evaluate aspiration needle muscular biopsy as an alternative to surgical open biopsy, so we focus on its results and tolerance. PATIENTS AND METHODS: We studied 150 patients with muscular pathology of every kind, and aged between 10 and 86 years, using a modified Allendale/Liverpool needle which by our indication has a built-in lateral funnel that provides faultless aspiration in 100% of cases. Percutaneous biopsy neuromuscular disorders study with modified aspiration Allendale needle: use and advantages over surgical biopsy. RESULTS: The biopsy, which was very well tolerated by the patients, children in particular, left no scar and produced fine samples for standard, immunohistochemical, ultrastructural, biochemical and genetic investigation. In children beyond 10 years of age no general anesthetics was required and in many 4-10 years neither. A number of unsuspected cases of mitochondrial or inflammatory myopathy were detected. Patients with cramps or unclearly defined clinical picture did, however, show frequent morphological pathology. In just three cases samples were defective; all others produced changes of diagnostic or prognostic value with 8% without morphologically abnormal changes. CONCLUSIONS: Modified aspiration needle biopsy is the choice method to study muscle. The samples are of excellent quality allowing for any kind of morphological, biochemical or genetic investigation. The procedure is routinely very well tolerated by patients so is very superior to open surgical biopsy, that we still use for infants in selected cases.

Estudio de las enfermedades neuromusculares por biopsia percutánea mediante aguja con aspiración modificada. Utilidad y ventajas sobre la biopsia quirúrgica / Modified aspiration needle muscular biopsy in neuromuscular diseases. Use and advantages over open surgical biopsy

Introducción. La biopsia muscular percutánea es una alternativa a la biopsia quirúrgica abierta; intentamos evaluar sus ventajas y resultados. Pacientes y métodos. Se estudiaron 150 pacientes entre 10 y 86 años empleando de una aguja con aspiración de tipo Allendale/Liverpool, con una embocadura lateral para efectuar la aspiración. Los pacientes presentaban cuadros diversos de patología muscular. Resultados. La tolerancia es muy buena, y en niños de edad inferior a 10 años, muy a menudo, no se requiere anestesia general. No queda cicatriz y el material es suficiente para el estudio morfológico, histoquímico, citoarquitectural, bioquímico y genético. De todos los casos, solamente en tres las tomas no fueron valorables; el resto de las tomas aportaron información diagnóstica y pronóstica, o no específica pero pronóstica, y en un 8 por ciento fueron normales. Se han detectado numerosos casos de miopatía inflamatoria o mitocondrial no sospechados clínicamente. Los grupos de pacientes con sintomatología mal definida y calambres muestran una elevada tasa de patología subyacente. Conclusión. Los resultados muestran que la biopsia por aguja con aspiración con la modificación sugerida por nosotros es el procedimiento de elección para el estudio del músculo; produce un material que permite un estudio morfológico completo y fiable, así como estudios bioquímicos y genéticos, con una mínima molestia, y, en conjunto, es claramente ventajosa sobre la biopsia quirúrgica, que nosotros reservamos para casos aislados en niños muy pequeños (AU)

Objective. To evaluate aspiration needle muscular biopsy as an alternative to surgical open biopsy, so we focus on its results and tolerance. Patients and methods. We studied 150 patients with muscular pathology of every kind, and aged between 10 and 86 years, using a modified Allendale/Liverpool needle which by our indication has a built-in lateral funnel that provides faultless aspiration in 100% of cases. Percutaneous biopsy neuromuscular disorders study with modified aspiration Allendale needle: use and advantages over surgical biopsy. Results. The biopsy, which was very well tolerated by the patients, children in particular, left no scar and produced fine samples for standard, immunohistochemical, ultrastructural, biochemical and genetic investigation. In children beyond 10 years of age no general anesthetics was required and in many 4-10 years neither. A number of unsuspected cases of mitochondrial or inflammatory myopathy were detected. Patients with cramps or unclearly defined clinical picture did, however, show frequent morphological pathology. In just three cases samples were defective; all others produced changes of diagnostic or prognostic value with 8% without morphologically abnormal changes. Conclusions. Modified aspiration needle biopsy is the choice method to study muscle. The samples are of excellent quality allowing for any kind of morphological, biochemical or genetic investigation. The procedure is routinely very well tolerated by patients so is very superior to open surgical biopsy, that we still use for infants in selected cases (AU)

[Cases of neurological symptoms associated with star anise consumption used as a carminative]. / Casos de enfermedad de sintomatología neurológica asociados al consumo de anís estrellado empleado como carminativo.

BACKGROUND: Since March 2000, a series of infants with serious gastrointestinal and neurological symptoms have been observed in Spain. These symptoms were suspected to be associated with the use of star anise infusion. We performed an epidemiological study to determine the characteristics of these patients and to evaluate the association between the symptoms and anise consumption. METHOD: From February to September 2001, a matched case-control study (1:2) was performed among infants aged less than 3 months admitted to the pediatric emergency departments of two hospitals in Madrid. Mantel-Haenszel and conditional logistic regression odds ratios (OR) were calculated to quantify the association and the dose-response relationship. Laboratory analyses of the implicated substances were performed. RESULTS: Twenty-three cases were studied. The mean age was 29.2 days (SD: 25.5). The symptoms observed were irritability, abnormal movements, vomiting and nystagmus. Eighteen cases and 36 controls were included in the case-control study. Nine controls (25 %) consumed anis infusion (consumption was high in five and low in four). The Mantel-Haenszel OR was 18.0 (2.03-631) and the OR for the dose-response relationship was 11.7 (95 % CI: 1.3-188.5) for low levels of consumption and 18.2 (95 % CI: 1.8-183.5) for high levels. Laboratory analyses revealed contamination of Illicium verum by Illicium anisatum. CONCLUSIONS: This study confirms the association between the symptoms described and the use of anise infusion. The dose response analyses provide further evidence for the association. Cross-contamination was found between the product and other anise species. We recommend destruction of the contaminated products, avoidance of anise infusions among infants, and dissemination of the results among pediatricians.

Casos de enfermedad de sintomatología neurológica asociados al consumo de anís estrellado empleado como carminativo / Cases of neurological symptoms associated with star anis consumption used as a carminative

Antecedentes: Desde marzo de 2001 se observaron en España una serie de niños, menores de 3 meses, que presentaban sintomatología digestiva y neurológica grave, presuntamente asociada al consumo de anís estrellado. Se inició un estudio epidemiológico con el objetivo de conocer las características de los afectados y valorar la asociación entre el cuadro y el consumo de anís. Método: Estudio de casos-controles apareados (1:2), en niños menores de 3 meses ingresados en las urgencias pediátricas de dos hospitales de Madrid, entre febrero y septiembre de 2001. Se emplearon odds ratio (OR) de Mantel-Haenzel y regresión logística condicionada para cuantificar la asociación y la dosis-respuesta. Se realizaron análisis de laboratorio de las sustancias implicadas. Resultados: Se estudiaron 23 casos. La sintomatología consistió en irritabilidad (78,3%), movimientos anormales y vómitos (56,5%), nistagmo (52,2%) y episodios de desaturación de oxígeno (21,7%). En el estudio de casos-controles se emplearon 18 casos y 36 controles. Nueve (25%) controles consumieron anís estrellado (exposición leve, 5 casos; alta, 4 casos). La OR de Mantel-Haenzel fue de 18,0 (intervalo de confianza [IC] del 95%, 2,03-631) y para la dosis-respuesta de 11,7 (IC 95%, 1,3-188,5) en la exposición leve y de 18,2 (IC 95%, 1,8-183,5) en la alta. Los análisis de laboratorio mostraron contaminación de Illicium verum con Illicium anisatum. Conclusiones: Se confirma la relación entre la enfermedad y el consumo de anís estrellado. La asociación se refuerza en los análisis de dosis-respuesta. Se encontró contaminación del producto con otras especies de anís. Se recomienda destrucción de las partidas contaminadas, no utilizar en lactantes y divulgación de los resultados entre pediatras (AU)

[Kinesic paroxysmal familial choreoathetosis: presentation of a case]. / Coreoatetosis paroxística cinesigénica familiar: presentación de un caso.

Report of a case of kinesic paroxysmal choreoathetosis in a family (as far as we know the first case of a family on record in Spanish) which responded very well to treatment with low doses of carbamazepine. The characteristics of this infrequent clinical entity are also discussed.