Síndrome de CHARGE y mutación en el gen CHD7 / CHARGE syndrome and CHD7 gene mutation

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[Neurological newborn in our center and follow-up]. / El recién nacido neurológico en nuestro medio y su seguimiento.

INTRODUCTION: The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the joint efforts of neonatologists and neuropaediatricians are therefore essential. DEVELOPMENT: We review the welfare work and demand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants. CONCLUSIONS: The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and for caring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement early intervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes.

[Early care and botulinum toxin. Our experience in the 21st century]. / Atención temprana y toxina botulínica.Nuestra experiencia en el siglo XXI.

INTRODUCTION: In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis. PATIENTS AND METHODS: Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. RESULTS: By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%. CONCLUSIONS: The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.

[Neuropaediatrics and primary care. Our experience in the 21st century]. / Neuropediatría y atención primaria.Nuestra experiencia en el siglo XXI.

INTRODUCTION: The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians. PATIENTS AND METHODS: We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems. RESULTS: Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%). CONCLUSIONS: The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.

El recién nacido neurológico en nuestro medio y su seguimiento / Neurological newborn in our center and follow-up

Introducción. Los avances producidos en la asistencia perinatal han cambiado la epidemiología de las enfermedades neurológicas durante el período neonatal. Con la disminución de la mortalidad neonatal nos venimos enfrentando a un elevado y creciente número de pacientes afectos de enfermedades discapacitantes o con riesgo de padecerlas, y, por ello, es imprescindible un seguimiento prolongado y la labor conjunta de neonatólogos y neuropediatras. Desarrollo. Revisamos la labor asistencial y demanda de la asistencia del recién nacido neurológico en nuestro servicio, morbilidad neurológica perinatal,funcionamiento de la policlínica de seguimiento, y comunicamos algunos resultados de nuestra experiencia en el seguimiento de neonatos de riesgo. Conclusiones. La demanda de asistencia neurológica neonatal va aumentando, lo que es importanteconocer para una mejor planificación de los recursos sanitarios y la atención de los pacientes. En nuestro medio, la prematuridad y la asfixia son los principales factores perinatales de secuelas neurológicas, cuya incidencia global es similar a la de otros trabajos, con una alta proporción de secuelas graves. Los programas de seguimiento deben ser rentables, a través de una mejor selección de la población de riesgo que se debe controlar y de la coordinación con los pediatras de atención primaria. La detección precoz de las deficiencias es esencial para una intervención temprana, a lo que contribuye una serie de recomendaciones dirigidas a los profesionales y familias, así como una mejor coordinación de los diferentes grupos pluridisciplinarios en los programas de prevención y atención necesaria

Introduction. The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the jointefforts of neonatologists and neuropaediatricians are therefore essential. Development. We review the welfare work anddemand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants. Conclusions. The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and forcaring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement earlyintervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes

Atención temprana y toxina botulínica. Nuestra experiencia en el siglo XXI / Early care and botulinum toxin our experience in the 21ST century

Introducción. En neuropediatría, el diagnóstico etiológico pocas veces permite un tratamiento causal. En muchas ocasiones sólo podemos ofrecer la derivación a atención temprana (AT) y la toxina botulínica tipo A (TBA). Ambas intervenciones sólo precisan para su inicio el diagnóstico funcional o sindrómico. Pacientes y métodos. Se analiza la experiencia enel programa de AT para Aragón desde febrero de 2003 y con la consulta de TBA de la Unidad de Neuropediatría del Hospital Universitario Miguel Servet desde noviembre de 2003. Resultados. El número de solicitudes al programa de AT hasta finales de 2007 ascendía a 2.629, y en 2007 se atendía a 702 niños. En cuatro años y cuatro meses se ha infiltrado con TBA a 122 niñoscon parálisis cerebral infantil, con resultados positivos del 70%, y efectos adversos leves y transitorios del 13,1%. Conclusiones. La AT y la TBA se perciben con alta satisfacción por niños, padres y profesionales implicados. La neuropediatría es una de las especialidades médicas más adecuadas en los equipos de atención temprana (CDIAT). El neuropediatra participaen todas las etapas de AT: detección, diagnóstico, información e intervención. Puede ser el elemento coordinador y homogeneizador de la AT, el enlace entre CDIAT y servicios sanitarios. Es necesario en programas de formación y docencia de AT, en campañas de sensibilización, información y formación de familias, atención primaria, servicios sociales y guarderías.El tratamiento con TBA no puede entenderse como una técnica aislada, sino dentro de un programa donde son fundamentales fisioterapia, ortesis y, en ocasiones, cirugía. Es imprescindible la coordinación con los profesionales implicados en el tratamientodel niño con parálisis cerebral infantil

Introduction. In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis. Patients and methods. Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA servicein the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. Results. By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. Infour years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%. Conclusions. The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development andearly intervention centres (CDIAT). The neuropaedia-trician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in familytraining, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutelycrucial

Neuropediatría y atención primaria. Nuestra experiencia en el siglo XXI / Neuropaediatrix and primary care our experience in the 21ST century

Introducción. La calidad asistencial de gran parte de la neuropediatría se beneficia de una adecuada comunicacióny de estrategias consensuadas con los pediatras de atención primaria (AP). Pacientes y métodos. Se analizan los niños valorados en la consulta de neuropediatría del Hospital Universitario Miguel Servet de Zaragoza en ocho años y se exponen las líneas más importantes de actuación en los problemas más prevalentes. Resultados. El 86% de las primeras visitas se reparteentre ocho motivos de consulta: trastornos paroxísticos (33%), cefalea (27%), retraso psicomotor (11,5%), alteraciones de la forma o tamaño de la cabeza (5,6%), problemas escolares y/o atención deficiente (4,5%), alteraciones del comportamiento (4,25%), trastornos de la marcha (3,5%) y sufrimiento perinatal (3,4%). Los diagnósticos más frecuentes son cefaleas/migrañas(26%), trastornos paroxísticos no epilépticos (16,5%), encefalopatía prenatal (10,5%), epilepsia (8%), retardo mental (7,5%), parálisis cerebral infantil (4,6%), trastorno por déficit de atención con hiperactividad (TDAH) criptogénico (3,8%) y autismo criptogénico (3,6%). Conclusiones. El pediatra de AP cercano a los niños y sus familias en todos los casos es el principalresponsable del seguimiento de algunos de los problemas más prevalentes, como cefaleas, muchos trastornos paroxísticos no epilépticos y TDAH. Los procesos deben estar establecidos, claramente explicitados, basados en las mejores evidencias, con la participación y al alcance de todos los profesionales involucrados, en beneficio de la homogeneidad y reducida variabilidadde las actuaciones. Es necesario establecer vías de comunicación, incluidas las tecnologías de la información y comunicación para una continua actualización y el mejor control de los pacientes

Introduction. The quality of the health care in a major part of neuropaediatrics benefits from appropriatecommunication and strategies that have been agreed with primary care (PC) paediatricians. Patients and methods.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over aperiod of eight years and we also discuss the most important courses of action followed in the most prevalent problems. Results. Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses areheadaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%). Conclusions. The PC paediatrician working in close relation with the children and theirfamilies in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favourhomogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way

[Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile]. / Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos

INTRODUCTION: The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction. PATIENTS AND METHODS: We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory. RESULTS: The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome). CONCLUSIONS: In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.

Nuestra experiencia diagnóstica en enfermedades peroxisomales con alteración del perfil de ácidos grasos / Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile

Introducción. Las enfermedades peroxisomales tienen una gran heterogeneidad etiológica y clínica. Un perfil alterado de ácidos grasos de cadena muy larga (AGCML) es común a muchas de ellas, lo que facilita su orientación diagnóstica.Pacientes y métodos. Se revisa nuestra experiencia diagnóstica en los casos de enfermedad peroxisomal con patrón alterado de AGCML, que se determinaban en suero sólo ante fuerte sospecha clínica hasta finales de 1998, fecha en que se introdujo en nuestro laboratorio su cuantificación por cromatografía. Resultados. En la base de datos de neuropediatría de mayo de 1990 a 1 de octubre de 2007 figuran 10.239 casos. Se han identificado 10 casos de enfermedad peroxisomal con patrón alterado de AGCML, todos varones: dos casos de espectro de síndrome de Zellweger, un defecto de la beta-oxidación peroxisomal sin tipificar y siete adrenoleucodistrofias ligadas a X (cuatro con afectación neurológica y tres sin daño neurológico; dosidentificados por ser hermanos de enfermos y el otro por presentar un síndrome de Addison). Conclusiones. En nuestros 10 casos, el diagnóstico se orientó por el cuadro clínico o familiar que llevó a la determinación de AGCML. La disponibilidad de la determinación de AGCML permite el diagnóstico siste-mático de pacientes de forma precoz. Actualmente, la realizamos ante sospecha clínica del espectro Zellweger, sospecha de adrenoleucodistrofia/adrenomieloneuropatía ligada a X, leucoencefalopatías de causa no aclarada, enfermedad de Addison, tanto en varones como mujeres, y ante toda encefalopatía crónica de causa no aclarada de inicio prenatal o no

Introduction. The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction. Patients and methods. We review our experience in the diagnosis of cases of peroxisomal diseases with analtered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory. Results. The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFApattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison’s syndrome).Conclusions. In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleuko - dystrophy/adrenomyeloneuropathy of unclear causation, Addison’s disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset

Síndrome de Gorlin neonatal asociado a hemimegalencefalia confirmado por estudio genético / Neonatal Gorlin syndrome associated to hemimegalencephaly confirmed by genetic study

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[Intracraneal hemorrhage caused by neonatal alloimmune thrombocytopenia. Report of a case and review]. / Hemorragia intracraneal por trombopenia neonatal aloinmune. Comunicación de un caso y revisión.

INTRODUCTION: Neonatal alloimmune thrombocytopenia (NAT) is due to the transplacental transfer of circulating maternal alloantibodies developed against fetal platelet antigens inherited from the father. Intracranial hemorrhage occurs in 15-30% of the cases, and very important neurological sequelaes can be due to it. CASE REPORT: We present the clinical and immunohematologic findings of a case of severe NAT that had two siblings who died by this illness. In the 31st week of gestation an intracranial hemorrhage is detected by echography, the birth was by caesarean section. Apgar score of 8 and 9, it wasn't necessary reanimation procedures. Cutaneous purpura and pallor were presented since birth. Neonatal complete blood count showed a platelet count of 6,000/mm3 (whereas maternal blood count was normal), haemoglobin of 8.8 g/dL and hematocrit of 26.1%, without other biological alterations. In maternal blood alloantibodies antiHPA-1a were detected, being the father homozigous for 1a/1a and the mother homozigous for 1b/1b. The patient was treated with transfusions, endovenous gammaglobulin and corticosteroids and his condition improved. CONCLUSIONS: Intraparenchymatous hemorrhage is an uncommon pathology in neonates, but when this occurs it's obligated to rule out a coagulation inherited illness, NTA especially, because of its prevalence and potentially serious neurological sequelaes, sometimes having a good neurological development. Prevention, early treatment and neuroimaging studies should be done in all newborn babies with alloimmune thrombocytopenia even when no neurological clinic is seen.

Hemorragia intracraneal por trombopenia neonatal aloinmune. Comunicación de un caso y revisión / Intracraneal hemorrhage caused by neonatal alloinmune thrombocytopenia. Report of a case and review

Introducción. La trombopenia neonatal aloinmune (TNA)se debe al paso de aloanticuerpos maternos dirigidos contra losantígenos plaquetarios fetales heredados del padre. En un 15-30%de los casos se produce hemorragia cerebromeníngea que puedeconducir a secuelas neurológicas importantes. Caso clínico. Sedescribe un caso de TNA en un recién nacido con antecedentes dedos hermanos fallecidos por el mismo motivo. A las 31 semanas sedetecta por ecografía hemorragia cerebral intraparenquimatosa yse efectúa parto por cesárea. Apgar de 8 y 9, no precisa maniobrasde reanimación. El examen físico revelaba desde el nacimientopúrpura cutánea generalizada y palidez, y el hemograma, una plaquetopeniagrave de 6.000/mm3; el recuento de la madre es normal,hemoglobina de 8,8 g/dL y hematocrito de 26,1%, sin otrasalteraciones biológicas destacables. En la sangre materna se detectaronaloanticuerpos de especificidad anti-HPA-1a; el padre eshomocigoto para 1a/1a, y la madre, para 1b/1b. Recibió transfusionesde plaquetas, así como inmunoglobulina endovenosa y corticoterapia,y evoluciona favorablemente. Conclusiones. La hemorragiaintracraneal parenquimatosa es una patología neonatal pocofrecuente, lo que obliga siempre a descartar un trastorno congénitode la coagulación, especialmente una TNA por su frecuencia ypotencial gravedad; en ocasiones puede tener una buena evoluciónneurológica. Es fundamental su prevención y tratamiento precoz yla realización de estudios de imagen, aun en ausencia de clínicaneurológica

Introduction. Neonatal alloimmune thrombocytopenia (NAT) is due to the transplacental transfer of circulatingmaternal alloantibodies developed against fetal platelet antigens inherited from the father. Intracranial hemorrhage occurs in15-30% of the cases, and very important neurological sequelaes can be due to it. Case report. We present the clinical andimmunohematologic findings of a case of severe NAT that had two siblings who died by this illness. In the 31st week ofgestation an intracranial hemorrhage is detected by echography, the birth was by caesarean section. Apgar score of 8 and 9,it wasn’t necessary reanimation procedures. Cutaneous purpura and pallor were presented since birth. Neonatal completeblood count showed a platelet count of 6,000/mm3 (whereas maternal blood count was normal), haemoglobin of 8.8 g/dL andhematocrit of 26.1%, without other biological alterations. In maternal blood alloantibodies antiHPA-1a were detected, beingthe father homozigous for 1a/1a and the mother homozigous for 1b/1b. The patient was treated with transfusions, endovenousgammaglobulin and corticosteroids and his condition improved. Conclusions. Intraparenchymatous hemorrhage is an uncommonpathology in neonates, but when this occurs it’s obligated to rule out a coagulation inherited illness, NTA especially,because of its prevalence and potentially serious neurological sequelaes, sometimes having a good neurological development.Prevention, early treatment and neuroimaging studies should be done in all newborn babies with alloimmune thrombocytopeniaeven when no neurological clinic is seen

Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años / Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years

Introducción. Las enfermedades neuromusculares hereditarias son trastornos heterogéneos en edad de inicio, clínica y gravedad. Muchas son graves, discapacitantes y con gran impacto personal, familiar y social, y pueden limitar el pronóstico vital. Se producen continuos avances diagnósticos que exigen una permanente actualización. Pacientes y métodos. Revisión de las enfermedades neuromusculares hereditarias de la base de datos de Neuropediatría del Hospital Miguel Servet de Zaragoza de mayo de 1990 a octubre de 2004. Resultados. De 7.805 pacientes de la base de datos figuran 123 casos (el 1,5% del total) con enfermedades neuromusculares hereditarias: 71 varones y 52 niñas. Son: 35 neuropatías hereditarias sensitivomotoras, 17 distrofinopatías, 10 distrofias miotónicas, 10 atrofias musculares espinales, cuatro distrofias congénitas deficientes en merosina, otras cuatro distrofias musculares, tres miopatías mitocondriales, tres miastenias, dos neuropatías familiares con insensibilidad al dolor, dos ataxias de Friedreich, una neuropatía familiar con parálisis sensibles a la presión, un síndrome de Walker-Warburg, cinco polineuropatías asociadas a leucodistrofia y otros 25 casos sin tipificar. Los estudios genéticos han sido diagnósticos en 36 casos (29,2%): nueve distrofias miotónicas, ocho distrofinopatías, ocho atrofias musculares espinales, cuatro neuropatías hereditarias sensitivomotoras desmielinizantes, dos ataxias de Friedreich, dos distrofias musculares de cintura, una miastenia congénita, una enfermedad de McArdle y un síndrome de Kearns-Sayre. Conclusiones. La genética establece diagnósticos que previamente sólo pueden ser de presunción, y permite evitar biopsias musculares, lo que es satisfactorio especialmente en niños. Es necesaria la actualización en los estudios inmunohistoquímicos y guardar sistemáticamente muestras biológicas en los casos sin diagnóstico (AU)

Introduction. Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. Patients and methods. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Results. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich’s ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich’s ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle’s disease and one case of Kearns-Sayre syndrome. Conclusions. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached (AU)

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]. / Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años.

INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

[Neonatal Cornelia de Lange syndrome]. / Síndrome de Cornelia de Lange neonatal.

INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.

Síndrome de Cornelia de Lange neonatal / Neonatal Cornelia de Lange syndrome

Introducción. El síndrome de Cornelia de Lange (SCL) consiste en un cuadro polimalformativo poco frecuente que presenta una amplia expresividad, de etiología todavía desconocida; la mayoría de los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Casos clínicos. Se trata de dos mujeres recién nacidas, sin antecedentes familiares de interés, con retraso de crecimiento intrauterino, nacidas por cesárea por pérdida del bienestar fetal. Ambas presentaban una hipotrofia armónica y un fenotipo clínico muy similar, en el que resaltaban las anomalías craneofaciales y facies características y las alteraciones de las extremidades. Además, su evolución confirma el diagnóstico, al comprobarse en ambas el retraso del desarrollo somático y microcefalia, así como retraso psicomotor moderado-grave y alteraciones del comportamiento. Asimismo, las dos han desarrollado complicaciones médicas características de la afección. El estudio complementario puso de manifiesto en ambas pacientes una disfunción marcada de las vías auditivas y una comunicación interauricular tipo ostium secundum. Se incluyeron precozmente en un programa de rehabilitación motora y sensorial. Conclusión. Se trata de dos observaciones de SCL, con diagnóstico neonatal, que consideramos de interés dada la importancia que tiene para el clínico el reconocimiento temprano de la afección, para el asesoramiento familiar y la ayuda médica y de desarrollo apropiada (AU)

Introduction. Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. Case reports. Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. Conclusion. We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development (AU)

[Microcephalus as the reason for visiting a regional referral neuropaediatric service]. / Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional.

INTRODUCTION: The first contact between the patient and clinician takes place when the former visits because of some health problem. PATIENTS AND METHODS: We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. RESULTS: In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. CONCLUSIONS: Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.

Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional / Microcephalus as the reason for visiting a regional referral neuropaediatric service

Introducción. El primer contacto entre paciente y médico se establece mediante la consulta de un problema. Pacientes y métodos. Se han revisado las historias clínicas de los niños valorados en el Servicio de Neuropediatría durante un período de 12 años y 9 meses, entre cuyos motivos de consulta, aislado o asociado a otros, figuraba la microcefalia. Se ha considerado la existencia o no de un perímetro cefálico por debajo del p3 y la evidencia o no de encefalopatía, y su origen prenatal, perinatal o posnatal, los diagnósticos funcionales y el diagnóstico etiológico. Resultados. De 6.257 niños, 58 (0,92 por ciento) consultaron por microcefalia. La edad media en el momento de la última consulta fue de 3,9 años. En cinco niños (8,6 por ciento) el perímetro cefálico no estaba por debajo del p3. En 20 pacientes (34,4 por ciento) no se evidenció encefalopatía, y en 38 (65,5 por ciento) sí se consideró encefalopatía, en 37 de origen prenatal: nueve genéticas, tres disruptivas y 22 sin especificar. Los diagnósticos funcionales fueron: retraso mental en 29 pacientes, parálisis cerebral infantil en 18, espectro autista en cuatro y epilepsia en cuatro. La neuroimagen ha contribuido al diagnóstico en 13 casos, el 43,3 por ciento de los que se han realizado. Conclusiones. La consulta por microcefalia, además de incluir a niños normales, comprende todo el espectro de encefalopatías prenatales, y se asocia, por orden de frecuencia, a retraso mental y a parálisis cerebral infantil. La valoración y la evolución clínica permite orientar cada caso. La neuroimagen es el examen complementario de mayor rentabilidad diagnóstica (AU)

Introduction. The first contact between the patient and clinician takes place when the former visits because of some health problem. Patients and methods. We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. Results. In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. Conclusions. Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes (AU)