Primary headache with onset in childhood and adolescence: natural history and prognostic factors in a Portuguese population. / Cefaleas primarias con inicio en la infancia y la adolescencia: historia natural y factores pronósticos en una población portuguesa.

INTRODUCTION: Headaches are the most frequent neurological disorder in the pediatric population, with great impact on quality of life. This study aims to characterize a cohort of patients followed at a pediatric neurology unit between January 1st 2013 and December 31st, 2021. MATERIALS AND METHODS: We reviewed medical records and selected patients with primary headaches and a minimum follow-up of 12 months. RESULTS: A total of 226 patients were included, 54.4% female, with an average age at headache onset of 9 ± 3.5 (3.1-16.5) years; 63.5% were prepubertal. A positive family history of headache was identified in 76.6% of cases and triggers in 63.6%. At first clinical assessment, 45.1% were classified as migraine without aura, 10.6% as migraine with aura, 3.5% tension-type, 8% mixed (tension and migraine), 1.3% other type and 31.4% were unclassifiable. The patients had a median follow-up of 2.4 (1.8-3.3) years. The diagnosis of tension-type headaches remained stable in 75% of the patients and resolved in 25%; 13% of the patients with migraine without aura changed into another type of headache and 17.4% resolved; 44.4% of the patients with migraine with aura turned into another type of headache and 11.1% resolved. Of the variables studied, only duration of headache episode had a significant association with headache remission, with odds ratio 0.16 (p = 0.03; 95% confidence interval: 0.032-0.84). CONCLUSIONS: Our study shows that headache type in pediatric population changes over time, especially in those with migraine with aura. The duration of each headache episode was presented as a predictor of headache remission over time.

TITLE: Cefaleas primarias con inicio en la infancia y la adolescencia: historia natural y factores pronósticos en una población portuguesa.Introducción. Las cefaleas son el trastorno neurológico más habitual en la población pediátrica e influyen notablemente en su calidad de vida. La finalidad de este estudio es caracterizar una cohorte de pacientes en seguimiento en una unidad de neurología pediátrica entre el 1 de enero de 2013 y el 31 de diciembre de 2021. Materiales y métodos. Hemos revisado informes médicos y seleccionado a pacientes con dolores de cabeza primarios y un seguimiento mínimo de 12 meses. Resultados. Se incluyó a un total de 226 pacientes, el 54,4% mujeres, con una media de edad al comenzar las cefaleas de 9 ± 3,5 (3,1-16,5) años; el 63,5% eran prepuberales. Se identificó un historial familiar positivo de cefalea en el 76,6% de los casos y factores desencadenantes en el 63,6%. En una primera evaluación clínica, el 45,1% se identificó como migrañas sin aura; el 10,6%, como migrañas con aura; el 3,5%, como cefalea tensional; el 8%, como de tipo mixto (cefalea tensional y migraña); el 1,3%, de otro tipo; y el 31,4% resultó inclasificable. Los pacientes se sometieron a un seguimiento promedio de 2,4 (1,8-3,3) años. El diagnóstico de cefalea tensional se mantuvo estable en el 75% de los pacientes y se solucionó en un 25%; para el 13% de los pacientes con migraña sin aura, el diagnóstico cambió a otro tipo de cefalea, y para el 17,4%, se solucionó; para el 44,4% de los pacientes sin migraña con aura, el diagnóstico cambió por el de otro tipo de cefalea, y para el 11,1%, se resolvió. De las variables estudiadas, sólo la duración del episodio de cefalea tuvo una asociación significativa con la remisión de la cefalea, con una odds ratio de 0,16 (p = 0,03; intervalo de confianza al 95%: 0,032-0,84). Conclusiones. Nuestro estudio muestra que el tipo de cefalea en la población pediátrica cambia con el paso del tiempo, especialmente en los pacientes con migraña con aura. La duración de cada uno de los episodios de cefalea se presentó como un predictor de la remisión de la cefalea con el paso del tiempo.

Transient benign paroxysmal movement disorders in infancy. / Trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia.

INTRODUCTION: Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach. DEVELOPMENT: Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis. CONCLUSION: Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.

TITLE: Trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia.Introducción. Los trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia engloban un grupo de trastornos que aparecen durante el período neonatal y en los primeros años de vida, y que desaparecen espontáneamente sin dejar secuelas. El objetivo de este artículo fue revisar los principales trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia, centrándose principalmente en el enfoque utilizado para su reconocimiento y diagnóstico. Desarrollo. En general, estos trastornos presentan entidades como temblores, mioclonías neonatales benignas del sueño, estremecimientos, mioclonías benignas de la infancia temprana, distonía transitoria idiopática del lactante, espasmo nutans, desviación tónica paroxística de la mirada hacia arriba en la infancia y tortícolis paroxística benigna. Conclusiones. Los trastornos paroxísticos del movimiento de carácter benigno y transitorio son episodios paroxísticos no epilépticos, cuyo diagnóstico es eminentemente clínico. Es crucial reconocer correctamente estas entidades para evitar los estados de ansiedad y la necesidad de realizar exámenes complementarios y tratamientos innecesarios.

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.

Niemann-Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Different clinical forms have been defined based on patient age at onset: perinatal, early-infantile (EI), late-infantile (Li), juvenile and adult. We evaluated the efficacy and tolerability of miglustat in 16 symptomatic NP-C patients, with comparative reference to one neurologically asymptomatic, untreated patient. All patients were categorized according to age at neurological disease onset, and were assessed using a standardized clinical assessment protocol: disability and cognitive function scales, positron emission tomography (PET), and biochemical markers. PET and disability scale evaluations indicated that cerebral hypometabolism and neurological symptoms were stabilized during treatment in juvenile-onset NP-C patients. EI and Li NP-C patients, who had higher disease severity at baseline (treatment start), showed increased disability scores and progressive cerebral hypometabolism during follow up. Similarly, while cognitive scale scores remained relatively stable in patients with juvenile NP-C, cognition deteriorated in EI and Li patients. Plasma chitotriosidase (ChT) activity was lower in the juvenile NP-C subgroup than in EI and Li patients, and generally increased in patients who discontinued treatment. Plasma CCL18/PARC and ChT activities indicated greater macrophagic activity in EI and Li patients versus juveniles. Miglustat was generally well tolerated; frequent adverse events included diarrhea and flatulence, which were managed effectively by dietary modification and loperamide. Overall, miglustat appeared to stabilize neurological status in juvenile-onset NP-C patients, but therapeutic benefits appeared smaller among younger patients who were at a more advanced stage of disease at baseline.

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with familial hemiplegic migraine type 2. The majority of ATP1A2 mutations were reported in patients with hemiplegic migraine without any additional neurological findings. Here, we report on two novel ATP1A2 mutations that were identified in two Portuguese probands with hemiplegic migraine and interesting additional clinical features. The proband's of family 1 (with a V362E mutation) had mood alterations, classified as a borderline personality. The proband in family 2 (with a P796S mutation) had mild mental impairment, in addition to hemiplegic migraine; more severe mental retardation was observed in his brother, who also had hemiplegic migraine and carried the same mutation. Cell-survival assays clearly showed abnormal functioning of mutant Na+,K+-ATPase, indicating that both ATP1A2 mutants are disease causing. Additionally, our results suggest a possible causal relationship of the ATP1A2 mutations with the complex clinical phenotypes observed in the probands.

Cefaleas primarias con inicio en la infancia y la adolescencia: historia natural y factores pronósticos en una población portuguesa / Primary headache with onset in childhood and adolescence: natural history and prognostic factors in a Portuguese population

Introducción: Las cefaleas son el trastorno neurológico más habitual en la población pediátrica e influyen notablemente en su calidad de vida. La finalidad de este estudio es caracterizar una cohorte de pacientes en seguimiento en una unidad de neurología pediátrica entre el 1 de enero de 2013 y el 31 de diciembre de 2021. Materiales y métodos: Hemos revisado informes médicos y seleccionado a pacientes con cefaleas primarias y un seguimiento mínimo de 12 meses.Resultados: Se incluyó a un total de 226 pacientes, el 54,4% mujeres, con una media de edad al comenzar las cefaleas de 9 ± 3,5 (3,1-16,5) años; el 63,5% eran prepuberales. Se identificó un historial familiar positivo de cefalea en el 76,6% de los casos y factores desencadenantes en el 63,6%. En una primera evaluación clínica, el 45,1% se identificó como migrañas sin aura; el 10,6%, como migrañas con aura; el 3,5%, como cefalea tensional; el 8%, como de tipo mixto (cefalea tensional y migraña); el 1,3%, de otro tipo; y el 31,4% resultó inclasificable. Los pacientes se sometieron a un seguimiento promedio de 2,4 (1,8-3,3) años. El diagnóstico de cefalea tensional se mantuvo estable en el 75% de los pacientes y se solucionó en un 25%; para el 13% de los pacientes con migraña sin aura, el diagnóstico cambió a otro tipo de cefalea, y para el 17,4%, se solucionó; para el 44,4% de los pacientes sin migraña con aura, el diagnóstico cambió por el de otro tipo de cefalea, y para el 11,1%, se resolvió. De las variables estudiadas, sólo la duración del episodio de cefalea tuvo una asociación significativa con la remisión de la cefalea, con una odds ratio de 0,16 (p = 0,03; intervalo de confianza al 95%: 0,032-0,84).Conclusiones: Nuestro estudio muestra que el tipo de cefalea en la población pediátrica cambia con el paso del tiempo, especialmente en los pacientes con migraña con aura. La duración de cada uno de los episodios de cefalea se presentó como un predictor de la remisión de la cefalea con el paso del...(AU)

Introduction: Headaches are the most frequent neurological disorder in the pediatric population, with great impact on quality of life. This study aims to characterize a cohort of patients followed at a pediatric neurology unit between January 1st 2013 and December 31st, 2021. Materials and methods: We reviewed medical records and selected patients with primary headaches and a minimum follow-up of 12 months. Results: A total of 226 patients were included, 54.4% female, with an average age at headache onset of 9 ± 3.5 (3.1-16.5) years; 63.5% were prepubertal. A positive family history of headache was identified in 76.6% of cases and triggers in 63.6%. At first clinical assessment, 45.1% were classified as migraine without aura, 10.6% as migraine with aura, 3.5% tension-type, 8% mixed (tension and migraine), 1.3% other type and 31.4% were unclassifiable. The patients had a median follow-up of 2.4 (1.8-3.3) years. The diagnosis of tension-type headaches remained stable in 75% of the patients and resolved in 25%; 13% of the patients with migraine without aura changed into another type of headache and 17.4% resolved; 44.4% of the patients with migraine with aura turned into another type of headache and 11.1% resolved. Of the variables studied, only duration of headache episode had a significant association with headache remission, with odds ratio 0.16 (p = 0.03; 95% confidence interval: 0.032-0.84).Conclusions: Our study shows that headache type in pediatric population changes over time, especially in those with migraine with aura. The duration of each headache episode was presented as a predictor of headache remission over time.(AU)

[Tics in children and adolescents: a retrospective analysis of 78 cases]. / Tics en niños y adolescentes: análisis retrospectivo de 78 casos.

INTRODUCTION: Tics are the most frequent abnormal movement in children. A familial history of tics and a personal and familial history of neurobehavioral disturbances are common in children with this abnormality. Tics may seriously compromise daily activities in affected individuals. OBJECTIVE: To identify the characteristics of tics in children and adolescents followed-up in the Neuropediatric Unit of the Hospital Geral de Santo António. MATERIALS AND METHODS: We performed a retrospective analysis of patients with tics based on information collected from medical records. The diagnostic criteria of the DSM IV-TR 2000 of the American Psychiatric Association were used. RESULTS: The medical records of 78 children were analyzed, 84.6 % of whom were boys. More than one third of the patients were aged 4 to 8 years old. In 5.1 % of the patients tics developed before the age of 2 years. A familial history of tics, depression and obsessive disorder traits was found in approximately 30 % of patients. The most frequent comorbidity was attention deficit hyperactivity disorder (67.9 %). The occurrence of pediatric autoimmune neuropsychiatric disorders associated with streptococcus infection (PANDAS) was suggested in five patients. In all patients, motor tics occurred before vocal tics. In more than two thirds of the patients, tics were simple. In 59.0 % of the patients, tics were chronic, and in 45.7 % of these met the criteria for Tourette's syndrome. A total of 43.1 % of the patients with chronic tics received pharmacotherapy, risperidone being the most frequently used drug. CONCLUSIONS: In general the results of the present study are in agreement with those of previous studies, underlining the need to consider a diagnosis of tics in young children and highlighting the importance of identification and appropriate treatment of comorbidities.

Trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia / Transient benign paroxysmal movement disorders in infancy

Introducción: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia engloban un grupo de trastornos que aparecen durante el período neonatal y en los primeros años de vida, y que desaparecen espontáneamente sin dejar secuelas. El objetivo de este artículo fue revisar los principales trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia, centrándose principalmente en el enfoque utilizado para su reconocimiento y diagnóstico. Desarrollo: En general, estos trastornos presentan entidades como temblores, mioclonías neonatales benignas del sueño, estremecimientos, mioclonías benignas de la infancia temprana, distonía transitoria idiopática del lactante, espasmo nutans, desviación tónica paroxística de la mirada hacia arriba en la infancia y tortícolis paroxística benigna. Conclusiones: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio son episodios paroxísticos no epilépticos, cuyo diagnóstico es eminentemente clínico. Es crucial reconocer correctamente estas entidades para evitar los estados de ansiedad y la necesidad de realizar exámenes complementarios y tratamientos innecesarios.(AU)

Introduction: Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach. Development: Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis. Conclusion: Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.(AU)

Long term outcome of functional hemispherectomy for refractory epilepsy: Experience from a single center / Resultado a largo plazo de la hemisferectomía funcional para la epilepsia refractaria: experiencia en un único centro

Background: Hemispherectomy has an established role as a treatment of last resort in patients with unilateral hemispheric lesions suffering from refractory epilepsy. Methods: Seven patients were evaluated at our Epilepsy Unit. We compared the seizure outcome at 6 months, 1, 2, 5 years post-surgery, as well as at end follow-up (mean 7.1 years) using Engel classification. Reduction of antiepileptic drugs (AEDs) was also assessed utilizing equal time frames. Results: The mean age of seizure onset was 5.4 years. Engel I was achieved in 5 patients at 6 months (71.4%). Engel at 1 year was predicted by the Engel at 6 months (p=0.013) with a similar number of patients being classified as Engel I outcome. Engel at 2 years was also predicted by Engel at 6 months and at 1 year (p=0.030). At end follow-up only 3 patients (42.9%) remained categorized as Engel I outcome. There was a trend toward a stability in Engel classification. All patients with developmental causes for their epilepsy experienced some deterioration of the surgical outcomes. Conversely, all patients with acquired causes were stable throughout follow-up. Seizure outcome at 6 months was worse in the patients who had post-op complications (p=0.044). Adult and pediatric populations did not differ significantly in any tested variable. Conclusions: Hemispherectomy is a valuable resource for seizure control in properly selected patients. Engel patient's evolution could be predicted at 6 months interval. Hemispherectomy could be considered a useful attitude in difficult cases (AU)

Antecedentes: La hemisferectomía tiene un rol establecido como último recurso de tratamiento en pacientes con lesiones hemisféricas unilaterales que padecen epilepsia refractaria. Métodos: En nuestra Unidad de Epilepsia fueron evaluados 7 pacientes. Comparamos el resultado de la crisis epiléptica a los 6 meses, 1, 2 y 5 años posteriores a la cirugía, así como durante el seguimiento final (media 7,1 años) utilizando la clasificación de Engel. También se evaluó la reducción de fármacos antiepilépticos (FAE) utilizando marcos temporales iguales. Resultados: La edad media de aparición de la crisis fue de 5,4 años. Se logró Engel I en 5 pacientes a los 6 meses (71,4%). Engel a 1año fue predicho por Engel a 6 meses (p=0,013) con un número similar de pacientes clasificados como resultado Engel I. Engel a 2 años fue también predicho por Engel a 6 meses y 1año (p=0,030). Durante el seguimiento final solo 3 pacientes (42,9%) siguieron categorizados como resultado Engel I. Se produjo una tendencia hacia la estabilidad en la clasificación Engel. Todos los pacientes con causas evolutivas para la epilepsia experimentaron cierto deterioro de los resultados quirúrgicos. Por contra, todos los pacientes con causas adquiridas permanecieron estables a lo largo del seguimiento. El resultado de las crisis a los 6 meses fue peor en los pacientes con complicaciones posquirúrgicas (p=0,044). Las poblaciones adulta y pediátrica no difirieron significativamente en ninguna de las variables probadas. Conclusiones: La hemisferectomía es un recurso válido para el control de la crisis en pacientes debidamente seleccionados. La evolución del paciente de Engel pudo predecirse a intervalos de 6 meses. La hemisferectomía podría considerarse una actitud útil en casos difíciles (AU)

[Rolandic epilepsy. An analysis of the clinical and electrophysiological characteristics, treatment and prognosis in 87 patients]. / Epilepsia rolándica. Análisis de las características clínicas, electrofisiológicas, tratamiento y pronóstico en 87 pacientes.

INTRODUCTION: Rolandic epilepsy is the most common epileptic syndrome in infancy. It usually has a favourable prognosis and seizures disappear during the teenage years. AIMS: The aim of this study was to describe a sample of children diagnosed with rolandic epilepsy in clinical, electrophysiological and imaging terms. We also intend to compare the results obtained with those described in the literature. PATIENTS AND METHODS: We conducted a retrospective, descriptive study of the children diagnosed with rolandic epilepsy who had been submitted to a follow-up at the Neuropaediatrics Unit at the HGSA since 1989. Children who were less than 2 years old when they suffered their first seizures or who had abnormal neurological/imaging examinations were excluded. Two groups were defined (typical and atypical), several variables were characterised and these were then analysed statistically. RESULTS: A total of 87 children (51 males) were included in this study, their mean age being 13.6 years. The population was divided into two groups: A (typical cases; n = 69) and B (atypical cases; n = 18). The mean age at the onset of seizures was 6.2 and 6 years for groups A and B, respectively. The predominant type of seizures was simple partial for group A and complex partial for group B; they were mainly sporadic and nocturnal in both groups. Medication was administered to 51 (73.9%) of the children in group A, with a good response in 78.4% of them; 13 members of group B (72.2%) received medication, with a positive response in 76.9% of them. CONCLUSIONS: Rolandic epilepsy has a broad clinical spectrum and usually courses with normal psychomotor development, but may coexist with learning disabilities. In this study, no significant differences were found between the typical and atypical forms of presentation, as far as their progress and response to treatment are concerned.

An atypical French form of pyruvate carboxylase deficiency.

A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. The initial neonatal symptoms started with respiratory distress, severe metabolic acidosis and a tendency to hypoglycemia. However, the clinical course was not rapidly deteriorating. At the age of 6 months he presented acute neurological symptoms, respiratory difficulty, lactic acidosis and hyperammonemia. Amino and organic acid abnormalities strongly suggested pyruvate carboxylase deficiency, which was confirmed by enzymatic studies in cultured fibroblasts and liver necropsy. Progressive deterioration and bronchopneumonia with cardiac failure and renal insufficiency led to death. Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed. The neonatal clinical presentation, biochemical abnormalities, and the presence of periventricular cysts suggested a French phenotype. However, the clinical course was less severe, suggesting a residual enzymatic activity and a possible milder mutation.

[Paroxysmal dyskinesias in children]. / Discinesia paroxística en la infancia.

AIM AND DEVELOPMENT: The clinical, pathophysiological and genetic features of some of the paroxysmal movement disorders are reviewed. Paroxysmal idiopathic dyskinesias are genetically heterogeneous. Although some motor manifestations of epilepsy and paroxysmal dyskinesia may be difficult to differentiate clinically, the current understanding is that the two disorders are clinically distinct. However there are several recent reports of families in which different individuals have either disorder or both manifestations, with age-related expressions. Co-occurrence makes it likely that a common, genetically determined pathophysiologic abnormality is variably expressed in the cerebral cortex and in basal ganglia. CONCLUSION: The pathophysiology of paroxysmal dyskinesia is unknown. To date, despite strong suspicions, no ion channel gene mutations have been isolated.

[X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies]. / Hidrocefalia ligada al cromosoma X (síndrome de Bickers-Adams). Presentación de un caso confirmado por la genética molecular.

INTRODUCTION: X-linked hydrocephalus (HLX) is a form of hydrocephalus with recessive transmission linked to the X chromosome, and a recurrence rate of 50% in male foetuses. It is the commonest genetic form of congenital hydrocephalus, with an incidence of 1/30,000 male births. It is characterized by dilation of the lateral ventricles and mental retardation, usually severe. Other common characteristics are abducted thumbs and spastic paraplegia (or quadriplegia). CLINICAL CASE: A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX. CONCLUSION: Identification of the mutation L1CAM in this family will permit identification of the carriers and make it possible to give genetic counselling and prenatal diagnosis.

[Rett's syndrome. Clinical features and advances in genetics]. / Síndrome de Rett. Características clínicas y avances genéticos.

INTRODUCTION: Rett's syndrome (RS) is a disorder of neurological development which is the second commonest cause of mental retardation in girls. It is normally caused by de novo mutations of a gene on the X chromosome. This gene encodes for the protein joining the methyl CpG (MECP2). Mutations of this gene have been found in approximately 80% of the cases confirmed as having the classical form of RS. Mutations of the gene MECP2 were also found in about a third of the nonclassical cases of RS and in other conditions: women with mild or severe mental retardation, children with autism, even children with neonatal encephalopathy or with a clinical condition similar to RS. DEVELOPMENT: Studies correlating the genotypes and phenotypes in classical RS suggest that the pattern of inactivation of the X chromosome is more important in determining the severity of the condition than the type or site of the mutation. However, when we consider all the phenotypes associated with mutations of MECP2, it is seen that the type of mutation correlates to a certain degree with the clinical onset and severity of the disorder. CONCLUSIONS: Recent advances in the genetics of RS therefore have specific application in the clinical field. They give further markers for diagnosis and possibly indicate the prognosis, as well as being useful in genetic counselling for the families of patients with RS.

[Opsoclonus myoclonus syndrome: how long are we going to go on researching?]. / Sindrome de opsoclono mioclono: ¿hasta cuando seguir investigando?

INTRODUCTION: Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently associated with this syndrome is the neuroblastoma. CASE REPORT: We report the case of a 22 month old girl who, after a febrile syndrome probably caused by a virus, began to present myoclonias in the upper and lower limbs, opsoclonus, a marked ataxic gait and extreme irritability. After ruling out neoplasia, oral corticotherapy was started and the neurological picture gradually improved. CONCLUSION: By reporting this clinical picture, our intention is to make the particular aspects of this neurological condition known, and highlight the need for neoplasias to be detected in time and for early treatment in order to prevent sequelae, especially when it appears as a paraneoplasic syndrome.

[Cluster headache in a 3 year old child]. / Cefalea en racimos en una niña de 3 años.

INTRODUCTION: Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. CLINICAL CASE: The authors report the clinical case of a five year old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headache.

[Schilder's disease: two new cases and a review of the literature]. / Enfermedad de Schilder: dos nuevos casos y revisión de la bibliografía.

INTRODUCTION: Schilder's disease, or diffuse myelinoclastic sclerosis, is an infrequent disease that presents clinically as a pseudotumoural demyelinating lesion, which makes its diagnosis more complicated as it can be mistaken for a tumour or an abscess. CASE REPORTS: We examine the case of a male who was healthy up to the age of 8 years, when symptoms of a left hemiparesis appeared with a subacute onset and which were associated to symptoms of intracranial hypertension. A brain CAT scan showed a hypodense lesion in the right temporoparietal region, and the hypothesis of a tumoural lesion (astrocyte) was suggested. Treatment was started with dexamethasone and furosemide, and a complete regression of the symptoms and a considerable decrease in the cerebral lesion were observed. The second case is that of a female adolescent who, at the age of 11, developed a clinical picture of subacute onset of left hemiplegia. A brain CAT scan revealed hypodense lesions with ring-shaped contrast enhancement. In view of the histological diagnosis of an astrocyte, radiotherapy and corticotherapy are started. After two months' treatment, a sharp involution of the lesions was observed, which led to the acceptance of the diagnostic hypothesis of Schilder's disease. Both children presented recurrence of the lesions three years and nine months, in the first and second case respectively, after the first episode. Treatment with corticoid therapy was started and gave good clinical and radiological responses. CONCLUSIONS: In the presence of a neurological deficit with a subacute onset, associated to a brain image showing a 'tumoural' lesion containing an important amount of oedema and little mass effect, diagnoses other than that of a brain tumour must be taken into account. It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae.

[Infection due to Mycoplasma pneumoniae: three cases with neurological complications]. / Infección por Myoplasma Pneumoniae: tres casos con complicaciones neurológicas.

INTRODUCTION: Mycoplasma pneumoniae infection has been associated with severe central nervous system diseases. The pathogenesis of these disorders is unknown and the treatment uncertain. CASE REPORTS: The authors present three cases of central nervous system diseases: acute transverse myelitis, cerebellitis and encephalomyelitis associated with M. pneumoniae infection. CONCLUSIONS: M. pneumoniae infection should be considered in all cases of severe acute central nervous system symptomatology.

[Status epilepticus in the childhood. A review of seven years]. / Estado de mal epiléptico en el niño. Revisión de siete años.

INTRODUCTION: Status epilepticus is a neurological emergency that requires early and prompt treatment. PATIENTS AND METHODS: This retrospective study includes 32 children treated for status epilepticus at Hospital Geral de Santo António, from January 1992 to December 1998. We evaluated the clinical features, duration, aetiology and prognostic. RESULTS: Symptomatic or criptogenetic aetiology was present in 53% of children and idiopathic in 47%. 27% of episodes of status epilepticus were induced by fever. The most common neurological sequel was epilepsy (onset of new epilepsy in 20%; aggravated in 25%). Two children (10%) had major neurological sequelae after status epilepticus. CONCLUSION: In our study the duration of status epilepticus and sequelae seems to be related with aetiology.

[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]. / Esclerosis tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo.

INTRODUCTION: Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2. OBJECTIVES: Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological manifestations and imaging studies. PATIENTS AND METHODS: Retrospective analysis of patients with TS, including review of medical records and available MRI imaging. RESULTS: We studied 35 cases with a median age at diagnosis of ten months. Seizures were the first manifestation in 91.4% of cases, with a predominance of epileptic spasms. Over 50% had cognitive impairment and 49% behavioral disorders. A genetic study was performed on 24 children, and TSC2 mutations identified in 58.3% of them. Of the 11 cases of refractory epilepsy, six had the TSC2 gene mutation. In the group of eight patients with moderate/severe cognitive deficits, five had TSC2 mutations. We reviewed 26 MRI scans, in which it was observed that 76.9% had diffuse involvement of cerebral lobes, which reflects a greater burden of injury. Of the patients who had an MRI scan performed and had TSC2 mutations, all had a high tuber load, and5 of them had refractory epilepsy. DISCUSSION: In our sample we observe a high percentage of mutations in the TSC2 gene. This mutation carries a worse neurological prognosis, with drug-resistant epilepsy and a more severe cognitive impairment.

[Sturge-Weber syndrome -clinical and neuroimaging variability]. / Síndrome de Sturge-Weber: variabilidad clínica y de neuroimagen.

Sturge Weber Syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of 13 patients (8 girls; aged between 15 days and 9 years at first visit). Twelve had facial angioma and one had atrichia corresponding to the area of brain involvement. Epilepsy was diagnosed in 6 cases, hemiplegia in 4, psychomotor delay in 7, and glaucoma in 4. Cerebral abnormalities were found in 10 children, 3 without neurological symptoms. The clinical signs and symptoms vary and there is not always a relationship between the severity of the clinical and neuroimaging abnormalities, which may occur even in the absence of neurological symptoms.