Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis / Neuroimaging findings in patient series with mucopolysaccharidosis

Introduction: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. Material and methods: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. Results: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). Conclusions: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity (AU)

Introducción: Las mucopolisacaridosis (MPS) son un grupo de enfermedades hereditarias de depósito lisosomal. El objetivo de esta revisión es describir las alteraciones neurorradiológicas en los niños evaluados en nuestro hospital con este diagnóstico, buscar la posible correlación de estas alteraciones con el tipo de MPS y con la gravedad clínica, y comparar nuestros hallazgos con lo descrito en la literatura. Material y métodos:Revisamos retrospectivamente las historias clínicas de 19 pacientes diagnosticados de MPS en el periodo 1992-2010: 7 tipo I (5 con síndrome de Hurler y 2 con Hurler-Scheie), 10 tipo II o síndme de Hunter (4 con la forma grave y 6 con la moderada), 1 tipo III o síndrome de Sanfilippo y 1 tipo VI o síndrome de Maroteaux-Lamy. Se analizaron las pruebas de neuroimagen: tomografía computarizada (TC) en 5 pacientes y resonancia magnética craneal (RMC) en 15. Resultados: Encontramos un amplio espectro de alteraciones radiológicas. En la TC destaca la megacisterna magna (3/5, 60%); en la RMC el aumento de los espacios perivasculares (11/15, 73%), la alteración parcheada de la sustancia blanca (SB) (11/15, 73%) y la ventriculomegalia (5/15, 33%).Conclusiones: Algunas anomalías neurorradiológicas son frecuentes en las MPS (aumento de los espacios perivasculares, alteraciones de la SB, ventriculomegalia), por lo que ante estos hallazgos debemos investigar esta posibilidad diagnóstica, especialmente en pacientes con clínica compatible. No hemos hallado datos específicos de cada tipo de MPS, ni relación de estas alteraciones radiológicas con la gravedad de la forma clínica (AU)

Hamartoma hipotalámico en la edad pediátrica: características clínicas, evolución y revisión de la literatura / Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature

Objetivos: Describir las características epidemiológicas, clínico-electroencefalográficas y la morbilidad asociada de los pacientes con hamartoma hipotalámico, así como la evolución y el tratamiento seguido. Pacientes y métodos: Se han revisado retrospectivamente las historias clínicas de 10 pacientes diagnosticados de hamartoma hipotalámico por resonancia magnética en los últimos 20 años.Resultados: La edad de debut de la epilepsia en los pacientes con hamartoma hipotalámico en nuestra serie está comprendida entre los primeros días de vida y los 2 años. De los 10 pacientes totales, 8 tuvieron crisis epilépticas en su evolución. Todos ellos presentaron crisis gelásticas, además de otros tipos de crisis, siendo las más frecuentes las parciales simples. Los hallazgos electroencefalográficos registrados fueron muy variables. Uno de los pacientes desarrolló encefalopatía epiléptica. Cinco pacientes presentaron algún tipo de trastorno de conducta. Cinco pacientes presentaron problemas cognitivos. En los 8 pacientes que presentaron crisis se ensayaron al menos 2 fármacos antiepilépticos diferentes y en 6 pacientes de estos se recurrió a alguna modalidad de tratamiento no farmacológica con el objetivo del control de las crisis. Solo en 3 de los 8 pacientes se ha conseguido aceptable control de su epilepsia. Cinco pacientes de la serie desarrollaron pubertad precoz. El tiempo medio de seguimiento de la serie es de 6 años. Conclusiones: La epilepsia es la manifestación más frecuente de los hamartomas hipotalámicos, siendo en la mayoría de los casos farmacorresistente, lo que conlleva dificultades en el manejo de estos pacientes, precisando en muchas ocasiones cirugía para su control. Es frecuente la aparición de comorbilidad psiquiátrica y afectación cognitiva (AU)

Objective: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomesPatients and methods: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years. Results: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years.Conclusions: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common (AU)

Cuestionario sobre cuidados paliativos a neuropediatras / Responses by neuropaediatricians to a palliative care questionnaire

Introducción: Actualmente en torno al 70% de los niños atendidos en cuidados paliativos (CP) son enfermos neurológicos. Nuestro objetivo es valorar el grado de formación, interés e implicación de los neuropediatras de España en relación con los cuidados paliativos pediátricos (CPP). Material y métodos: Nos dirigimos a 297 neuropediatras mediante correo electrónico, adjuntando 10 preguntas tipo test. En ellas se hace referencia al conocimiento de los CPP, reconocimiento de pacientes con estas necesidades, implicación del neuropediatra, conocimiento y utilización de recursos paliativos, y formación individual sobre estos temas. Resultados: Participa el 32% (96/297). En torno al 90% conoce qué son los CPP, reconoce a pacientes con pronóstico vital acortado y ha atendido a niños que finalmente han fallecido debido a su enfermedad. El 61% ha realizado alguna vez un informe de «no reanimación». El 77% considera la casa como el lugar idóneo para fallecer (si la atención es adecuada), el 9% el hospital y el 14% cualquiera de los dos previos. El 52% ha contactado alguna vez con recursos locales de CP y el 61% deriva o derivaría pacientes para que sean seguidos conjuntamente (por CP y neuropediatría). Más de la mitad considera no tener formación suficiente para atender estos pacientes y al 80% le gustaría ampliar sus conocimientos en CPP.Conclusión: Los neuropediatras encuestados atienden con frecuencia niños con pronóstico vital acortado. El grado de implicación con estos pacientes es alto, aunque mayoritariamente se necesita y se desea mayor formación en CP para proporcionar mejor atención a estos enfermos (AU)

Introduction: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists. Material and methods:We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject. Results: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient's home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC.Conclusion: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families (AU)

[Responses by neuropaediatricians to a palliative care questionnaire]. / Cuestionario sobre cuidados paliativos a neuropediatras.

INTRODUCTION: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists. MATERIAL AND METHODS: We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject. RESULTS: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient́s home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC. CONCLUSION: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families.

[Hypothalamic hamartoma in paediatric patients: clinical characteristics, outcomes and review of the literature]. / Hamartoma hipotalámico en la edad pediátrica: características clínicas, evolución y revisión de la literatura.

OBJECTIVE: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes PATIENTS AND METHODS: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years. RESULTS: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years. CONCLUSIONS: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common.

Neuroimaging findings in patient series with mucopolysaccharidosis.

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. MATERIAL AND METHODS: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. RESULTS: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). CONCLUSIONS: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity.

Polimicrogiria: epidemiología, factores neurológicos y anatómicos y evolución clínica de una serie de 34 casos / Polymicrogyria: epidemiology, neurological and anatomical factors and clinical outcome in a series of 34 cases

Objetivo: Describir la epidemiología y evolución clínica, así como los factores anatómicos y neurológicos implicados, en una serie de casos de 34 pacientes con esta afectación. Pacientes y métodos: Se han recopilado 34 pacientes diagnosticados y/o en seguimiento en la sección de neuropediatría del Hospital Infantil Universitario Niño Jesús entre 1995 y 2010. Todos los pacientes tienen una resonancia magnética indicativa de polimicrogiria y la mayoría sigue controles periódicos, por lo que conocemos su evolución. Resultados: El 76,5% de los pacientes son varones. La media de edad de inicio de la clínica neurológica es de 10 meses; el motivo del estudio fue por retraso psicomotor (44%) seguido por crisis (38,2%). En su evolución los pacientes presentaron epilepsia (61,7%), parálisis cerebral infantil (47%), retraso psicomotor/mental (94,1%), trastorno generalizado del desarrollo (26,4%), alteraciones conductuales (38,2%), déficits neurosensoriales (35,2%) y microcefalia el 67,6%. En el 82,3% la afectación es bilateral (42,8% perisilviana). El 58,8% asoció otras alteraciones en la resonancia magnética. El electroencefalograma al diagnóstico estaba alterado en el 41,1% y a lo largo de la evolución aumentó hasta el 67,6%. Reciben tratamiento antiepiléptico el 61,7%, precisando ≥ 2 fármacos el 52,3%. Dos pacientes se sometieron a cirugía de la epilepsia. Presentó algún tipo de secuela el 91,1%. La etiología es desconocida en el 61,7%; se sospecha infección congénita en 10 y cuadro sindrómico o polimalformativo en 3. Conclusiones: Con este estudio se pone en evidencia la amplitud de expresión clínica y radiológica posible en la polimicrogiria, además de las posibilidades futuras en cuanto a una aproximación etiológica en esta patología (AU)

Introduction: The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in polymicrogyria in 34 patients with this disorder. Subjects and methods: We have compiled 34 patients diagnosed and/or in follow-up at the Department of Paediatric Neurology of the Hospital Infantil Niño Jesús between 1995 and 2010. All the patients had a magnetic resonance imaging suggestive of polymicrogyria, and most of the patients still have periodic checks, thus their outcome is known. Results: The large majority were male (76.5%). The median age at presentation was 10 months; the reason for the study was psychomotor or mental delay (44%) followed by seizures (38.2%). During the condition patients presented with epilepsy (61.7%), infantile cerebral palsy (47%), psychomotor/mental retardation (94.1%), pervasive developmental disorder (26.4%), behavioural disturbances (38.2%), neurosensory deficit (35.2%) and microcephaly 67.6%. In 82.3% of patients there was bilateral involvement (42.8% perisylvian). Other abnormalities were observed in the MRI of 58.8% of patients. The electroencephalogram at diagnosis showed changes in 41.1%, and this rose to 67.6% during follow-up. 61.7% received antiepileptic treatment was received by 61.7% of patients, with 52.3% requiring ≥2 drugs. Epilepsy surgery was performed on two patients. Some type of sequelae was observed in 91.1% of patients. The aetiology was unknown in 61.7%; a congenital infection was suspected in 10 patients and syndromic or polymalformative disorder in three patients. Conclusions: This study shows the range of clinical and radiological expression in polymicrogyria, in addition to the possibilities for the future in terms of determining the aetiology of this pathology (AU)

¿Cuál es el pronóstico de la trombopenia inmunitaria crónica? / What is the prognosis of chronic immune thrombocytopenia?

Objetivos: Analizar las características de los niños diagnosticados de trombocitopenia inmunitariaprimaria crónica (PTIc) en el Hospital Infantil Universitario Niño Jesús (HIUNJ) entre los años 2003 y 2008 y comprobar si variables como la edad, el sexo, tratamiento recibido, o el número inicial de plaquetas tienen importancia en la evolución de la enfermedad. Pacientes y métodos: Se recogieron datos retrospectivamente de las historias clínicas de 288pacientes diagnosticados de «púrpura y otras patologías hemorrágicas» en los informes de alta del HIUNJ. De ellos, 42 estaban diagnosticados de PTI crónica. Resultados: Diez pacientes de los 42 (23,8%) lograron la remisión completa con esplenectomía y 25 (59%) lo hicieron sin ella (14 eran remisiones completas y 11 parciales). En casi el 20% de los pacientes diagnosticados de PTI crónica se logró la remisión entre los 6 y los 12 meses del diagnóstico inicial de PTI. No se correlacionó ninguna variable clínica con la evolución de la enfermedad. Conclusiones: Se observan recuperaciones entre los 6 y los 12 meses después del diagnósticos in tratamiento, por lo que, de acuerdo con las denominaciones internacionales más recientes, es aconsejable restringir el término PTI crónica para aquellos casos con más de un año de evolución. No existe relación entre las variables analizadas y el pronóstico de la enfermedad. La esplenectomía es el tratamiento con mayor número de respuestas completas. Sin embargo, la alta incidencia de recuperación espontánea, la baja tasa de hemorragia y el pronóstico en general benigno aconsejan retrasar esta intervención si es posible (AU)

Objectives: To analyse the characteristics of children with chronic ITP (chronic immune thrombocytopenia) in the Hospital Infantil Universitario Niño Jesús (HIUNJ) between 2003 and 2008.To also evaluate whether clinical variables as age, gender, initial platelet count, and treatment have any prognostic significance on the outcome of ITP. Patients and methods: Data were retrospectively collected from 288 patients diagnosed with «Purpura and other haemorrhagic illnesses». Forty-two out of these 288 satisfied the criteria for «chronic ITP». Results: Ten patients out of 42 (23.8%) achieved remission with splenectomy, and 25 (almost 60%) achieved it without splenectomy (14 were complete remissions and 11 were partial remissions).Eight patients (almost 20% of patients with chronic ITP) had spontaneous remissions between 6 and 12 months from initial diagnosis. None of the clinical variables analysed were related to the outcome of the disease and the prognosis of the disease. Conclusions: Almost 60% of children with chronic ITP achieve remission without treatment regardless of age, gender, initial treatment or platelet count. Splenectomy is one of the treatments with best results; however the high spontaneous recovery rate in children with cITP, the low percentage of bleeding, and the generally benign outcome should encourage delaying this as long as possible. As it is possible to have a remission between 6 and 12 months from the initial diagnosis, the term «chronic» should be reserved for patients with ITP lasting more than1 year (AU)

[What is the prognosis of chronic immune thrombocytopenia?]. / ¿Cuál es el pronóstico de la trombopenia inmunitaria crónica?

OBJECTIVES: To analyse the characteristics of children with chronic ITP (chronic immune thrombocytopenia) in the Hospital Infantil Universitario Niño Jesús (HIUNJ) between 2003 and 2008. To also evaluate whether clinical variables as age, gender, initial platelet count, and treatment have any prognostic significance on the outcome of ITP. PATIENTS AND METHODS: Data were retrospectively collected from 288 patients diagnosed with "Purpura and other haemorrhagic illnesses". Forty-two out of these 288 satisfied the criteria for "chronic ITP". RESULTS: Ten patients out of 42 (23.8%) achieved remission with splenectomy, and 25 (almost 60%) achieved it without splenectomy (14 were complete remissions and 11 were partial remissions). Eight patients (almost 20% of patients with chronic ITP) had spontaneous remissions between 6 and 12 months from initial diagnosis. None of the clinical variables analysed were related to the outcome of the disease and the prognosis of the disease. CONCLUSIONS: Almost 60% of children with chronic ITP achieve remission without treatment regardless of age, gender, initial treatment or platelet count. Splenectomy is one of the treatments with best results; however the high spontaneous recovery rate in children with cITP, the low percentage of bleeding, and the generally benign outcome should encourage delaying this as long as possible. As it is possible to have a remission between 6 and 12 months from the initial diagnosis, the term "chronic" should be reserved for patients with ITP lasting more than 1 year.