Trastornos del sueño en niños con epilepsia / Sleep disorders in children with epilepsy

Introducción: Los niños con epilepsia tienen más trastornos del sueño (TS) que la población sana. Es fundamental su diagnóstico, ya que la epilepsia y los TS tienen una relación bidireccional. Objetivo: Determinar la incidencia de TS y malos hábitos de sueño en niños con epilepsia. Método: Estudio transversal de pacientes menores de 18 años con epilepsia sobre TS, mediante la versión española de Sleep Disturbance Scale for Children (SDSC), y sobre hábitos de sueño, mediante cuestionario de elaboración propia. Resultados: La muestra incluyó 153 pacientes. El 84% de la población estudiada presentaba alterado algún aspecto del sueño. Lo más frecuente fueron las alteraciones en la transición sueño-vigilia (53%), en el inicio-mantenimiento del sueño (47,7%) y la somnolencia diurna (44,4%). Un 70% de los padres de los pacientes referían que su hijo «dormía bien», pero en este grupo se detectaron TS hasta en el 75,7%. Muchos de los pacientes tenían hábitos de sueño poco saludables, como dormirse con dispositivos electrónicos (16,3%), precisar presencia familiar para dormirse (39%) o dormir en colecho o cohabitación (23,5 y 30,5%, respectivamente). Aquellos con epilepsias generalizadas, refractarias, crisis nocturnas y discapacidad intelectual presentaron mayor probabilidad de presentar TS. En cambio, los malos hábitos de sueño fueron frecuentes independientemente de las características de la epilepsia. Conclusiones: Los TS y los malos hábitos de sueño son frecuentes en niños con epilepsia. Su tratamiento puede conllevar una mejoría en la calidad de vida del paciente y su familia, así como una mejoría en el pronóstico de la epilepsia.(AU)

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. Methods: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. Results: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients’ parents reported that their child “slept well,” although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. Conclusions: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.(AU)

Sleep disorders in children with epilepsy.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.

Sleep disorders in children with epilepsy. / Trastornos del sueño en niños con epilepsia.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.

[Use of benzodiazepines in prolonged seizures and status epilepticus in the community]. / Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad.

Prolonged seizures and status epilepticus are common neurological medical emergencies. Early and appropriate treatment is essential to reduce morbidity and mortality. Most seizures occur in the community, so parents and caregivers must be prepared for their management. Benzodiazepines (BZD) are the first-line drugs used, with rectal diazepam (DZPr) being the most commonly used in pre-hospital treatment in Spain. In September 2011, the European Medicines Agency (EMA) authorized the use of oromucosal midazolam (MDZb) for the treatment of prolonged acute convulsive seizures in patients aged 3 months to <18 years. MDZb has a rapid onset, short duration of effect, and avoids first-pass hepatic metabolism. MDZb has shown to be at least as or more effective than DZPr to stop the seizures. Buccal administration is easier and more socially accepted, especially in adolescents and adults. It is a safe drug with similar effects to other BZD; MDZb improves the overall cost-effectiveness of seizures management.

Utilidad del hierro en el tratamiento del trastorno por déficit de atención e hiperactividad / Role of iron in the treatment of attention deficit-hyperactivity disorder

Introducción: La etiología del trastorno por déficit de atención-hiperactividad (TDAH) es multifactorial: factores genéticos, ambientales y biológicos (neurotransmisores: sistema dopaminérgico). El hierro es fundamental para un correcto funcionamiento del sistema dopaminérgico. La ferropenia es frecuente en niños con TDAH y su corrección podría ser útil como tratamiento de estos pacientes. Objetivos: Analizar la posible relación entre ferropenia y síntomas de inatención, hiperactividad e impulsividad presentes en pacientes con TDAH, así como el posible beneficio del tratamiento con hierro. Pacientes y métodos: Estudio prospectivo en niños diagnosticados de TDAH según criterios DSM-IV, cognitivamente normales, no anémicos. Se usaron escalas específicas (SNAP-IV, EDAH) y se determinó la ferritina sérica. Aquellos con ferritina ≤ 30 ng/ml recibieron tratamiento con sulfato ferroso (4 mg/kg/día) durante 3 meses, analizándose posteriormente su eficacia. Resultados: Se analizó a 60 pacientes, edad media: 9,02 años (rango: 6-14). El subtipo inatento fue el más frecuente (53,3%); el 63,3% presentó ferropenia, siendo más frecuente entre los inatentos (38 vs. 22; p < 0,02). Diecisiete pacientes completaron el tratamiento con hierro. De los 8 del subtipo no inatento, en 7 el tratamiento no fue efectivo y en uno la respuesta fue parcial. De los 9 del subtipo inatento, el tratamiento fue eficaz en el control total de los síntomas en 5, parcialmente eficaz en 3 e ineficaz en un paciente. La probabilidad de obtener respuesta completa tras tratamiento con hierro fue mayor en pacientes con TDAH inatento (p = 0,02). Conclusiones: El tratamiento con suplementos férricos puede ser una alternativa eficaz en el tratamiento de pacientes con TDAH y ferropenia, especialmente en aquellos con subtipo inatento (AU)

Introduction: The aetiology of attention deficit hyperactivity disorder (ADHD) is attributed to different factors: genetic, environmental, and biological (neurotransmitters: dopaminergic system). Iron is essential for the correct functioning of the dopaminergic system. Iron deficiency is common in patients with ADHD, and its correction may be useful in the treatment. Objectives: To analyse a possible relationship between iron deficiency and symptoms of inattention, hyperactivity and impulsivity in ADHD patients, and the potential benefit of iron therapy. Patients and methods: A prospective study was conducted on non-anaemic and cognitively normal children, newly diagnosed with ADHD, according to DSM-IV criteria. Specific scales wereused (SNAP-IV, ADHS) and serum ferrit in was determined. Those with ferritin≤30 ng/ml were treated with ferrous sulphate (4 mg/kg/day) for 3 months, with its effect quantified being subsequently quantified. Results: A total of 60 patients, with a mean age of 9.02 years (range: 6-14), were analysed. The inattentive subtype was the most frequent one (53.3%). Almost two-thirds (63.3%) had iron deficiency, which was more frequent among the inattentive group (38 vs 22, P<0.02).The iron treatment was completed by 17 patients. The treatment was not effective in 7 of the8 non-inattentive subtypes, with a partial response in the remaining one. Of the 9 inattentive subtypes: the treatment was successful in the total control of symptoms in 5 of them, partially effective in other 3, and ineffective in one patient. The probability of complete response after treatment with iron was higher in inattentive patients with ADHD (P=0.02).Conclusions: Treatment with iron supplements can be an effective alternative to treat patients with ADHD and iron deficiency, especially the inattentive subtype (AU)

[Role of iron in the treatment of attention deficit-hyperactivity disorder]. / Utilidad del hierro en el tratamiento del trastorno por déficit de atención e hiperactividad.

INTRODUCTION: The aetiology of attention deficit hyperactivity disorder (ADHD) is attributed to different factors: genetic, environmental, and biological (neurotransmitters: dopaminergic system). Iron is essential for the correct functioning of the dopaminergic system. Iron deficiency is common in patients with ADHD, and its correction may be useful in the treatment. OBJECTIVES: To analyse a possible relationship between iron deficiency and symptoms of inattention, hyperactivity and impulsivity in ADHD patients, and the potential benefit of iron therapy. PATIENTS AND METHODS: A prospective study was conducted on non-anaemic and cognitively normal children, newly diagnosed with ADHD, according to DSM-IV criteria. Specific scales were used (SNAP-IV, ADHS) and serum ferritin was determined. Those with ferritin ≤ 30 ng/ml were treated with ferrous sulphate (4 mg/kg/day) for 3 months, with its effect quantified being subsequently quantified. RESULTS: A total of 60 patients, with a mean age of 9.02 years (range: 6-14), were analysed. The inattentive subtype was the most frequent one (53.3%). Almost two-thirds (63.3%) had iron deficiency, which was more frequent among the inattentive group (38 vs 22, P<.02). The iron treatment was completed by 17 patients. The treatment was not effective in 7 of the 8 non-inattentive subtypes, with a partial response in the remaining one. Of the 9 inattentive subtypes: the treatment was successful in the total control of symptoms in 5 of them, partially effective in other 3, and ineffective in one patient. The probability of complete response after treatment with iron was higher in inattentive patients with ADHD (P=.02). CONCLUSIONS: Treatment with iron supplements can be an effective alternative to treat patients with ADHD and iron deficiency, especially the inattentive subtype.

[Para-infectious seizures in children: a retrospective study of 34 cases]. / Crisis parainfecciosas en el niño: estudio retrospectivo de 34 casos.

INTRODUCTION: Para-infectious seizures are afebrile convulsions that are associated with banal infectious processes and have a good overall prognosis. AIM: To determine the natural history of para-infectious seizures in children. PATIENTS AND METHODS: We conducted a retrospective study of children who were admitted to our hospital between January 2000 and January 2005 with seizures associated to an infectious process that did not satisfy the criteria of febrile seizures. Data collected included age, sex, season of the year, personal and familial history, type of infection, symptoms of the seizures, complementary examinations, treatments that were used and progression. RESULTS: The sample finally included 22 girls and 12 boys with ages ranging from 6 to 38 months (mean: 20.26 +/- 8.29 months) and previous psychomotor development was seen to be normal. Three of them had a family history of epilepsy and three others had suffered previous febrile seizures. Twenty-three children developed seizures associated to gastroenteritis and in 11 cases they were linked to upper respiratory infections. The average interval between onset of the infection and seizures was 2.26 days, and the average number of seizures was 3.38. Eight patients had recurring seizures (23.5%), usually in the form of para-infectious or febrile seizures, and secondary seizures were observed in only one case. CONCLUSIONS: It is important to be familiar with this condition because many of these patients are initially diagnosed with an encephalitic syndrome. These seizures are usually associated with gastroenteritis, with cluster seizures and with normal later psychomotor development. The risk of developing secondary seizures developmentally is low.

Crisis parainfecciosas en el niño: estudio retrospectivo de 34 casos / Para-infectious seizures in children: a retrospective study of 34 cases

Las crisis parainfecciosas son crisis convulsivas afebriles que se asocian a procesos infecciosos banalesy tienen un buen pronóstico global. Objetivo. Conocer la historia natural de las crisis parainfecciosas en el niño. Pacientes y métodos. Estudio retrospectivo de los niños ingresados en nuestro hospital entre enero de 2000 y enero de 2005 con crisis convulsivas asociadas a un proceso infeccioso que no cumplían los criterios de las crisis convulsivas febriles. Se analizaron:edad, sexo, estación del año, antecedentes personales y familiares, tipo de infección, la semiología de la crisis, las exploraciones complementarias, tratamientos empleados y la evolución. Resultados. Se encontraron 22 niñas y 12 niños con edades comprendidas entre 6 y 38 meses (media: 20,26 ± 8,29 meses) con un desarrollo psicomotor previo normal. Tres de ellos tenían antecedentes familiares de epilepsia y tres más presentaban crisis febriles previas. Veintitrés niños desarrollaron crisis convulsivas asociadas a una gastroenteritis y 11 a una infección del tracto respiratorio superior. El intervalo promedioentre el inicio de la infección y la crisis fue de 2,26 días, y el número promedio de crisis, de 3,38. Ocho pacientes presentaron recurrencia de las crisis convulsivas (23,5%), habitualmente como crisis parainfecciosas o crisis febriles, y tan sólo en un casocomo crisis no provocadas. Conclusiones. Es importante conocer esta entidad dado que a muchos de estos pacientes se les diagnostica inicialmente síndrome encefalítico. Estas crisis suelen asociarse a gastroenteritis, con agrupación de crisis y conun desarrollo psicomotor posterior normal. El riesgo de presentar crisis no provocadas de forma evolutiva es bajo

Para-infectious seizures are afebrile convulsions that are associated with banal infectious processesand have a good overall prognosis. Aim. To determine the natural history of para-infectious seizures in children. Patients and methods. We conducted a retrospective study of children who were admitted to our hospital between January 2000 and January 2005 with seizures associated to an infectious process that did not satisfy the criteria of febrile seizures. Datacollected included age, sex, season of the year, personal and familial history, type of infection, symptoms of the seizures, complementary examinations, treatments that were used and progression. Results. The sample finally included 22 girls and 12boys with ages ranging from 6 to 38 months (mean: 20.26 ± 8.29 months) and previous psychomotor development was seen to be normal. Three of them had a family history of epilepsy and three others had suffered previous febrile seizures. Twenty-three children developed seizures associated to gastroenteritis and in 11 cases they were linked to upper respiratory infections. Theaverage interval between onset of the infection and seizures was 2.26 days, and the average number of seizures was 3.38. Eight patients had recurring seizures (23.5%), usually in the form of para-infectious or febrile seizures, and secondaryseizures were observed in only one case. Conclusions. It is important to be familiar with this condition because many of these patients are initially diagnosed with an encephalitic syndrome. These seizures are usually associated with gastroenteritis, withcluster seizures and with normal later psychomotor development. The risk of developing secondary seizures developmentally is low

[Hemiconvulsion-hemiplegia syndrome: two case reports with findings from magnetic resonance imaging of the brain in diffusion-weighted sequences]. / Síndrome hemiconvulsión-hemiplejía: presentación de dos casos con los hallazgos de resonancia magnética cerebral en secuencias potenciadas en difusión.

INTRODUCTION: Hemiconvulsion-hemiplegia (HH) syndrome is characterised by prolonged hemiclonic seizures followed by, very often permanent, hemiplegia. We report the cases of two patients with HH syndrome; in addition, the paper also includes a discussion of the value of neuroimaging in its diagnosis, including the use of magnetic resonance imaging (MRI) of the brain in diffusion-weighted sequences, and its clinical-radiological progression. CASE REPORTS: Case 1: a 16-month-old female who was admitted to hospital owing to right-side hemiclonic seizures, with a febrile condition, that lasted at least 30 minutes, and persistent hemiparesis on the right-hand side of the body. Results of an initial computerised tomography (CT) brain scan were normal. Brain MRI at 3 days: T2 weighted sequences were normal; diffusion-weighted sequences showed lowered diffusion in the temporoparietooccipital region in the left hemisphere. Brain CT scan at 6 months: hemiatrophy on the left-hand side of the brain. Paresis of the right hand continues at the age of 4 years and 8 months; no further seizures have occurred and the patient's psychic development is normal. Case 2: a female aged 2 years and 6 months who was admitted to the Paediatric Intensive Care Unit owing to right-side hemiclonic seizures, with a feverish condition, lasting between 35-40 minutes, with persistent hemiplegia on the right-hand side of the body. The patient had a history of psychomotor retardation secondary to chromosome pathology; findings from a brain CT scan were normal. CT scan at 48 hours after the episode: edema in the left hemisphere of the brain. Brain MRI at 7 days following hospital admission: extensive involvement of the left hemisphere of the brain could be seen in T2 weighted sequences and in diffusion-weighted sequences. CT scan at 3 months: hemiatrophy on the left-hand side of the brain. Hemiparesis persists at the age of 5 years and 4 months; the patient has had no further seizures and attends specialised schooling. CONCLUSION: Although rare in our environment, HH syndrome can be seen in the context of hemiclonic febrile conditions. MRI of the brain in diffusion-weighted sequences may be the only means of proving the initial brain lesion.

Síndrome hemiconvulsión-hemiplejía: presentación de dos casos con los hallazgos de resonancia magnética cerebral en secuencias potenciadas en difusión / Hemiconvulsion-hemiplegia syndrome: two case reports with findings from magnetic resonance imaging of the brain in diffusion-weighted

Introducción. El síndrome de hemiconvulsión-hemiplejía (HH) se caracteriza por crisis hemiclónicas prolongadas seguidas de hemiplejía muchas veces permanente. Se presentan dos pacientes con síndrome HH y se discute el valor de la neuroimagen en el diagnóstico, con inclusión de la resonancia magnética (RM) cerebral en secuencias potenciadas en difusión, y su evolución clinicorradiológica. Casos clínicos. Caso 1: niña de 16 meses que ingresa por presentar crisis hemiclónica derecha, febril, de al menos 30 minutos de duración, y hemiparesia derecha persistente. Tomografía computarizada (TC) craneal inicial, normal. RM cerebral a los 3 días: secuencias potenciadas en T2 normales; secuencias potenciadas en difusión, con disminución de difusión en región temporoparietooccipital del hemisferio izquierdo. TC craneal a los 6 meses: hemiatrofia cerebral izquierda. A los 4 años y 8 meses persiste paresia de la mano derecha; no ha vuelto a presentar crisis y su desarrollo psíquico es normal. Caso 2: niña de 2 años y 6 meses que ingresa en la Unidad de Cuidados Intensivos Pediátricos por crisis hemiclónica derecha, febril, de 35-40 minutos de duración, con hemiplejía derecha persistente. Antecedente de retraso psicomotor secundario a cromosomopatía, con TC craneal normal. TC a las 48 horas del episodio: edema de hemisferio cerebral izquierdo. RM cerebral a los 7 días de su ingreso: en secuencias potenciadas en T2 y en secuencias potenciadas en difusión se aprecia una afectación extensa del hemisferio cerebral izquierdo. TC a los 3 meses: hemiatrofia cerebral izquierda. A los 5 años y 4 meses persiste hemiparesia; no ha vuelto a presentar crisis y recibe educación especializada. Conclusión. Aunque raro en nuestro medio, es posible observar síndrome HH en el contexto de estados febriles hemiclónicos. La RM cerebral en secuencias potenciadas en difusión puede ser el único medio de demostrar la lesión cerebral inicial (AU)

Introduction. Hemiconvulsion-hemiplegia (HH) syndrome is characterised by prolonged hemiclonic seizures followed by, very often permanent, hemiplegia. We report the cases of two patients with HH syndrome; in addition, the paper also includes a discussion of the value of neuroimaging in its diagnosis, including the use of magnetic resonance imaging (MRI) of the brain in diffusion-weighted sequences, and its clinical-radiological progression. Case reports. Case 1: a 16-month-old female who was admitted to hospital owing to right-side hemiclonic seizures, with a febrile condition, that lasted at least 30 minutes, and persistent hemiparesis on the right-hand side of the body. Results of an initial computerised tomography (CT) brain scan were normal. Brain MRI at 3 days: T2 weighted sequences were normal; diffusion-weighted sequences showed lowered diffusion in the temporoparietooccipital region in the left hemisphere. Brain CT scan at 6 months: hemiatrophy on the left-hand side of the brain. Paresis of the right hand continues at the age of 4 years and 8 months; no further seizures have occurred and the patient’s psychic development is normal. Case 2: a female aged 2 years and 6 months who was admitted to the Paediatric Intensive Care Unit owing to right-side hemiclonic seizures, with a feverish condition, lasting between 35-40 minutes, with persistent hemiplegia on the right-hand side of the body. The patient had a history of psychomotor retardation secondary to chromosome pathology; findings from a brain CT scan were normal. CT scan at 48 hours after the episode: edema in the left hemisphere of the brain. Brain MRI at 7 days following hospital admission: extensive involvement of the left hemisphere of the brain could be seen in T2 weighted sequences and in diffusion-weighted sequences. CT scan at 3 months: hemiatrophy on the left-hand side of the brain. Hemiparesis persists at the age of 5 years and 4 months; the patient has had no further seizures and attends specialised schooling. Conclusion. Although rare in our environment, HH syndrome can be seen in the context of hemiclonic febrile conditions. MRI of the brain in diffusion-weighted sequences may be the only means of proving the initial brain lesion (AU)

[Benign intracranial hypertension and heterozygosity for factor V Leiden mutation]. / Hipertensión intracraneal benigna y heterocigosis para el factor V de Leiden.

Benign idiopathic intracranial hypertension (BIH) in association with prothrombotic conditions has been reported with increasing frequency in the medical literature. Recently, activated protein C resistance (APCR) has been identified as a factor in some cases. Because of its high prevalence, factor V Leiden mutation (FVL) is the most frequent coagulation abnormality associated with cerebral venous thrombosis. Reduced craniospinal fluid reabsorption due to damaged arachnoid villi secondary to microthrombus formation has been proposed as an explanation for the physiopathology of BIH and FVL. We describe two patients with a diagnosis of BIH, in whom the only risk factor was heterozygosity for FVL mutation.

Toxina botulínica y tratamiento actual de la parálisis cerebral infantil / Botulinic toxin and present treatment of child cerebral palsy

La parálisis cerebral constituye una causa frecuente de discapacidad en la infancia. La espasticidad, presente en cerca del 80 por ciento de los casos, es una de las principales causas de trastorno funcional en estos pacientes. Además, predispone al desarrollo de contracturas articulares, lo que puede producir un deterioro aún mayor. La toxina botulínica ha demostrado ser eficaz para tratar la espasticidad. Parece ser una alternativa útil para el tratamiento del pie equino espástico en pacientes con parálisis cerebral que conservan la capacidad para la marcha y podría tener, además, otras indicaciones. Sin embargo, hay algunas cuestiones que permanecen sin esclarecer, sobre todo relacionadas con grupos musculares concretos y con la interpretación de los resultados, lo que sin duda hace necesario continuar la investigación (AU)

[Repeated cerebral infarction in a patient with Duchenne's muscular dystrophy]. / Infartos cerebrales de repeticion en un paciente con distrofia muscular de Duchenne.

INTRODUCTION: We describe a case of Duchenne muscular dystrophy (DMD) with multiple strokes related to dilated cardiomyopathy. CASE REPORT: A 13 year old boy, with advanced stage DMD was admitted to the hospital because of acute motor and sensory impairment in his right bodyside. Imaging study revealed lesions in basal ganglia and prerolandic cortex in the left hemisphere that were compatible with infarcts in the territory of the medial cerebral artery. Cardiologic evaluation revealed dilation of the left ventriculi and systolic dysfunction with ejection fraction of 35 40%. The symptoms evolved to a residual right hemiparesia. Five months later, the patient developed a transient episode of aphasia and the study performed in this case revealed lesions compatible with infarcts in basal ganglia and insular cortex of the right cerebral hemisphere. CONCLUSION: Cerebral infarction related to cardiomyopathy can worsen the clinical condition of patients with DMD. Early treatment of dilated cardiomyopathy with systolic dysfunction, including use of antithrombotic agents to prevent cerebrovascular complications, could help to improve the course of the disease.

[Intrathecal baclofen therapy: the selection of patients and short term results in five patients]. / Terapia con baclofén intratecal: selección de pacientes y resultados a corto plazo en cinco pacientes.

INTRODUCTION: Intrathecal baclofen therapy (ITB) is a new tool in the integrated treatment of childhood spasticity. AIMS. We describe the eligibility and exclusion criteria used in the study and short term results of ITB therapy in our first five patients are also reported. PATIENTS AND METHODS: Our sample of patients consisted of three females and two males aged between 14 and 17 years. Two of them were ambulant (one without help and the other with crutches), two were serious non ambulant tetraparetics and the other was in a wheelchair but minimally ambulant. All of them satisfied our eligibility criteria. The main aims set out were to improve walking in the three patients with less serious involvement and to reduce or eliminate the pain and enhance quality of life (QOL) in the two more seriously affected patients. In all cases, the Baclofen test was positive. RESULTS: Follow up time was between 2 and 5 months. The objectives appear to have been accomplished, for the time being, in three patients: the two ambulant patients improved their capacity to walk and one male with serious spastic tetraparesis and pain no longer suffers from that pain and his QOL has improved. There were mild transient side effects in three patients. CONCLUSION: The selection of patients, including the definition of realistic tailor made objectives, is an essential step in ITB therapy. Results in our series, in the short term, indicate that ITB therapy can be efficient in ambulant and non ambulant patients, and offers few side effects.

Nap polygraphic recordings after partial sleep deprivation in patients with suspected epileptic seizures.

A review of the literature shows that nap recordings make a significant contribution to epilepsy studies, providing evidence of specific EEG findings in patients suspected of having epilepsy. In addition, sleep deprivation can cause paroxysmal EEG activity and clinical seizures. We studied retrospectively 686 patients, 51.8% males and 48.2% females, who had experienced at least one episode classified from the clinical point of view as epileptic in origin. They were divided into six age groups. Patients underwent a two-hour (1 P.M.-3 P.M.) nap-video-polygraphic recording (EEG 13 channels using the standard 10-20 system, EOG, ECG, EMG and respiration), following a partial sleep deprivation (1 to 3 h) the night before. A second recording was made in 40 patients. In 35.3% of patients, a complete sleep cycle was obtained; in 64.6% sufficient light and deep NREM sleep was obtained, but not REM stage; in 9.3%, we only observed drowsiness and stage 1 of sleep, and this group was excluded from the analysis. Interictal and/or ictal epileptic discharges were observed during the first nap recording in 245 patients (40.4% of the sample). In addition, in 40 patients (11%) with normal or inconclusive first nap EEG, a second recording was able to demonstrate epileptic abnormalities in 35% of cases. Because of its good cost/benefit ratio and availability in most western laboratories, we consider the 'nap plus partial sleep deprivation' method as advantageous over other activation procedures.

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both glutarate and 3-hydroxyglutarate, and group 2 (17 patients), those who might not be detected by routine urine organic acid analysis because glutarate might be normal and 3-hydroxyglutarate only slightly higher than controls. Single-strand conformation polymorphism (SSCP) screening and sequence analysis of the 11 exons and the corresponding intron boundaries of the GCDH gene allowed us to identify 13 novel and 10 previously described mutations. The most frequent mutations in group 1 were A293T and R402W with an allele frequency of 30% and 28%, respectively. These two mutations were also found in group 2, but always in heterozygosity, in particular in combination with mutations V400M or R227P. Interestingly, mutations V400M and R227P were only found in group 2, and at least one of these mutations was found in 11 of 15 unrelated alleles, accounting together for 53% of the mutant alleles in group 2. Therefore, it seems clear that two genetically and biochemically distinct groups of patients exist. The severity of the clinical phenotype seems to be closely linked to the development of encephalopathic crises rather than to residual enzyme activity or genotype. Comparison of GCDH protein with other acyl-CoA dehydrogenases (whose x-ray crystal structure has been determined) reveals that most of the mutations identified in GCDH protein seem to affect folding and tetramerization, as has been described for a number of mutations affecting mitochondrial beta-oxidation acyl-CoA dehydrogenases.

[Cerebral malaria in children]. / Neuropaludismo infantil.

INTRODUCTION: Malaria is one of the main health problems in the Third World. Plasmodium falciparum infects as many as 300 million people, causing up to three million deaths each year, most of which occur in African children. Cerebral malaria is the most common lethal complication of P. falciparum infection in children and is defined by three criteria: disturbances of consciousness, presence of P. falciparum parasitaemia and absence of other causes of acute encephalopathy. Cerebral malaria is a medical emergency and parenteral quinine is the most recommended treatment because of the frequency of chloroquine-resistant strains. Mortality is as high as 50 per cent and residual disability is present in about 20 per cent of survivors. OBJECTIVE: We want to warm Spaniard neuropaediatricians about the existence of cases of cerebral malaria in our country in order to get a better diagnose and treatment for those children. PATIENTS AND METHODS: A retrospective medical scores review of 20 hospitalised children diagnosed of malaria from 1990 to 1998. We selected three cases with neurological signs and we analysed clinical onset, EEG, neuroimaging, and permanent sequels. RESULTS: All patients had acute encephalopathy with fever, obtundation and seizures. They all presented residual disability (mainly hemiparesis). CONCLUSION: We must know better about cerebral malaria because of an increasing incidence of imported malaria due to emigration from African countries and Spaniard tourism to areas of endemic paludism.

CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease.

Central nervous system involvement in Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, is manifested mainly by diabetes insipidus reflecting local infiltration of Langerhans cells into the posterior pituitary or hypothalamus. We describe two patients with progressive spinocerebellar degeneration appearing 4 and 6 years after the initial diagnosis of LCH. No correlation was found between the clinical course of the disease or its treatment and the neurological impairment. An extensive search for metabolic, toxic, neoplastic, and hereditary etiologies for progressive cerebellar degeneration was negative.

[A case of mixed (parenchymatous meningo-basal) neurocysticercosis]. / Presentación de un caso de neurocisticercosis mixta (parenquimatosa-meningobasal).

INTRODUCTION: Cysticerosis is the commonest parasitic disease to affect the central nervous system (CNS). Distribution is universal. It is endemic in many developing countries and in the Third World. CNS cysticercoses or neurocysticercosis may be classified according to its site in three main groups: parenchymatous, extra-parenchymatous and mixed. The clinical features vary from casual findings to fulminating encephalitis. The commonest presenting symptoms are intracranial hypertension (HIC) in the extra-parenchymatous forms and convulsions in the parenchymatous forms. CLINICAL CASE: We present the case of an eight-year-old Peruvian boy with the clinical features of progressive intracranial hypertension. Cerebro-spinal fluid (CSF) serological and neuro-imaging findings were compatible with mixed neurocysticercosis (parenchymatous calcifications and an active meningobasal lesion). We also describe the neuro-radiological changes seen in the course of the illness of our patient after treatment with albendazol. These are mainly the reduction in size and progressive calcification of the active meningobasal lesion. CONCLUSIONS: We propose a neuro-radiological classification based on that of Carpio et al as a method of helping to decide on anti-parasitic treatment. We emphasize the importance of the findings on cranial magnetic resonance (MR), using gadolinium to differentiate the various stages of the disease. Finally, we draw attention to the possible increase in this disease in our environment, due to the current increase in migration from endemic areas of Latin America.