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Introduction. Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies. Case report. An 11-year-old girl with a limb-girdle phenotype of slow-channel congenital myasthenic syndrome presenting with a slowly progressive fatigable weakness at the age of 8 years. After a clinical worsening with pyridostigmine, empirically started before the exome sequencing results were available, a dramatic and sustained response to ephedrine monotherapy was observed. Whole exome sequencing revealed a de novo heterozygous mutation in CHRNB1 gene: c.865G>A; p.Val289Met (NM_000747.2). An abnormal decrement in amplitude (23.9%) from the first to fifth intravollley waveform was revealed after repetitive peroneal nerve stimulation at low frequencies. In addition, a second smaller compound muscle action potential after the peak of the main M-wave in median, ulnar and peroneal motor nerves was observed. Conclusion. Favorable responses to adrenergic agonists added to fluoxetine had been reported. However, to the best of our knowledge this is the first report on effective monotherapy with ephedrine in a slow-channel congenital myasthenic syndrome patient. Adrenergic agonists may be considered as a therapeutic option in patients with this syndrome.

There is evidence that children with mitochondrial diseases tend to have short stature, but the growth of these patients has not been assessed in detail. We calculated the standard deviation (SD) of height, weight and body mass index (BMI) of 58 children and adolescents between the ages of 1.5 months and 18 years with a proven diagnosis of mitochondrial diseases. Overall, 31.03% of recorded heights, 29.31% of weights and 39.65% of BMIs were more than 2SD below the mean. In the group of children with encephalomyopathic forms of mitochondrial diseases, 34.09% of heights and weights, and 43.18% of BMIs were more than 2SD below the mean, while in the group with myopathic forms 21.42% of weights, 14.28% of heights and 28.57% of BMIs were more than 2SD below the mean. These results suggest that mitochondrial diseases are an important cause of short stature and of reduction in BMI in children and adolescents, particularly the encephalomyopathic forms.

INTRODUCTION: The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion. AIM: To report the case of a girl with a heterozygous de novo mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria. CASE REPORT: We report the case of an 8-year-old girl who was submitted to a developmental follow-up from the age of 18 months after presenting the association of severe intellectual disability and motor delay, lack of language development, segmental hypotonia, a wide forehead and kyphoscoliosis. Magnetic resonance imaging of the brain revealed the presence of a bilateral band heterotopia and parietooccipital polymicrogiria predominant on the left side. In the exome the de novo heterozygous variant c.397+1G>C was detected in the MBD5 gene. CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder.

Hashimoto encephalopathy is a steroid-responsive encephalopathy associated with elevated blood concentrations of antithyroid antibodies. The patients are usually euthyroid or mildly hypothyroid. The clinical picture is pleomorphic, presenting with variable symptoms ranging from behavioral and cognitive changes, myoclonus, seizures, pyramidal tract dysfunction, involuntary movements, and cerebellar signs to psychosis and coma, with relapsing and progressive course. The diagnosis is often overlooked at presentation but is crucial, given that this is a treatable disease. Described here, with a literature review, is the youngest patient reported to date with Hashimoto encephalopathy.

Introduction. Functional hemispherectomy consists in palliative epilepsy surgical procedure usually performed in patients with pharmaco-resistant epilepsy and hemispheric syndromes. It is based on the neural disconnection of the affected hemisphere with preservation of the vascular supply. Aim. To analyze long-term prognosis and safety of the hemispherectomies performed in our institution. Patients and methods. Retrospective analysis collecting the following variables: age, gender, age of epilepsy onset, type of seizures, etiology, age of epilepsy surgery, prognosis and potential surgical complications. All patients had a minimum of five years of follow up. Results. Five patients (60% females) underwent hemispherotomy between 1999 and 2010. Age of epilepsy onset was 36 months and time of evolution until surgery was 7 years. The most frequent type of seizures were simple motor seizures with secondary generalization (n = 5). Three patients remained seizure free persistently after surgery and another patient had a more than 90% improvement. Time of follow up was 13 years. One patient suffered a bacterial meningitis without sequelae. Six years after surgery a patient suffered hydrocephalous requiring ventriculoperitoneal shunt. Conclusions. Functional hemispherectomy constitutes an effective method to treat patients with pharmaco-resistant epilepsy, extensive unihemispheric pathology and seizures limited to that hemisphere. Late complications may occur thus long-term follow-up is needed.

Introduction. Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate’s volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance. Case report. An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen. These findings, although distinctive, had been underestimated in previous evaluations and their detection determined the analyse and identification of a pathogenic variant in TUBB4A gene. Conclusions. Progressive deterioration leads the patient to total dependence or death in infancy or youth and there is no specific treatment capable of modifying its natural course.

Introduccion. La alta prevalencia del trastorno por deficit de atencion/hiperactividad (TDAH), con al menos un alumno por aula, supone un reto para todos los profesionales que estan en contacto con ellos, en especial para los maestros. Objetivo. Examinar los conocimientos de los maestros de educacion primaria sobre el TDAH en tres areas (informacion general, sintomas y diagnostico, y tratamiento). Sujetos y metodos. Un total de 125 maestros de educacion primaria de varias comunidades cumplimentaron la Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). Resultados. Los maestros contestaron de forma correcta a menos de la mitad de los items, y la subescala de sintomas y diagnostico es donde mas conocimientos demostraron. Los maestros que habian tenido ninos con TDAH en clase mostraron mas conocimientos en las areas de informacion general y tratamiento, pero no en la subescala de sintomas y diagnostico. Un 32,8% de los maestros describe sentirse poco o nada capaz de ensenar eficazmente a ninos con TDAH y recomienda la educacion especial como mejor estilo educativo. Los maestros con formacion especifica en TDAH obtuvieron mejores resultados en la KADDS en comparacion con los maestros sin formacion. Conclusion. Los maestros formados en TDAH demuestran un mayor grado de conocimiento y aumenta su confianza para llevar a cabo la labor educativa de los ninos con TDAH.

Five females with mitochondrial encephalomyopathies were treated for 3 to 7 years with a xanthine oxidase inhibitor (allopurinol, oral route, 20 mg/kg/day, in 2 or 3 doses daily). Clinical course was monitored in all patients. In addition, various metabolic variables, namely blood lactic acid, blood adenosine triphosphate, adenosine diphosphate, and adenosine monophosphate were monitored, as well as energy charge. Data obtained were compared with data for an age-matched control group of 10 healthy children. Four of the five patients manifested clinical improvement, and the remaining patient exhibited slower disease progression. Three of the four patients who exhibited clinical improvement also had normalization of blood lactic acid level. All five patients had an increase in blood adenosine triphosphate levels and a decline in blood adenosine monophosphate; four of the five manifested a decline in blood adenosine diphosphate and increased energy charge. Mean blood adenosine triphosphate was significantly increased with respect to pretreatment levels and with respect to the control group; mean energy charge displayed an increase, though this was not statistically significant. In one patient, reduction of the allopurinol dose to 10 mg/kg/day was followed by a decline in both blood adenosine triphosphate level and energy charge, and by clinical worsening. In conclusion, the xanthine oxidase inhibitor allopurinol appears to have had beneficial effects in these patients in terms of both energy metabolism and clinical course.

The concentration levels of serum lipids and lipoprotein (a) were measured in 20 children receiving carbamazepine, 25 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment while eating a normal diet, (2) during chronic treatment while eating a low-fat diet (children treated with carbamazepine and phenobarbital with high levels of total choleserol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol), and (3) 3 months after the end of treatment with antiepileptic drugs. Patients during chronic treatment and eating a normal diet revealed significant changes in lipids, but when we reevaluated the groups of children treated with carbamazepine and phenobarbital when they were eating a low-fat diet and reevaluated the three groups of children 3 months after the end of treatment, a complete return to normal of all parameters was observed. These data demonstrate that the changes induced by these drugs are transient, reversible, and influenced by a low-fat diet. ( J Child Neurol 2006;21:48—53).

Introducción: El síndrome de Aicardi-Goutières es una enfermedad neurodegenerativa de herencia autosómica recesiva, que se caracteriza por presentar encefalopatía grave y progresiva de inicio precoz, microcefalia evolutiva, disfunción piramidal-extrapiramidal, calcificaciones intracraneales especialmente a nivel de ganglios basales, afectación de la sustancia blanca, linfocitosis y elevación del interferon alfa (IFN-α) en líquido cefalorraquídeo (LCR) y en sangre. Casuística: Aportamos dos nuevas observaciones (un niño de 3 meses de edad y una niña de 11 meses) con clínica de hipotonía, microcefalia, retraso psicomotor, signos piramidales y extrapiramidales en la niña. Se demostró calcificaciones intracraneales, linfocitosis en LCR en el niño, y en ambos elevación del IFN-α en sangre y LCR. Comentarios: Es importante tener presente esta entidad a pesar de su relativa rareza, ante un paciente con afectación del desarrollo psicomotor, microcefalia y presencia de calcificaciones intracraneales, debido a las distintas consideraciones de cara al consejo genético que tiene con respecto a otras entidades más prevalentes y fácilmente confundibles, como las infecciones TORCH (toxoplasmosis, rubéola, citomegalovirus, herpes). : Introduction: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-α in blood and cerebrospinal fluid (CSF) form part of this syndrome. Cases reports: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay. Mild choreic and dystonic movements, as well as progressive spasticity, were also observed in the girl. Extensive investigations revealed intracranial calcifications, mild CSF lymphocytosis in the boy, and raised IFN-α in blood and CSF in both patients. Comments: Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection. Appropriate genetic counseling should be provided.

Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. Vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 1½ months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. Epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (eg, Sturge-Weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures. (J Child Neurol 2002;17:219-222).

Tics are repetitive, sharp, rapid, non-rhythmic movements or utterances that are the result of sudden, abrupt and involuntary muscular contractions. Stereotypies are repetitive, apparently impulsive, rhythmic, purposeless movements that follow an individual repertoire that is specific to each individual and that occur under a variable time pattern, which may be either transient or persistent. Both are included in the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), among the neurodevelopmental disorders, and together with coordination development disorder go to make up the group of motor disorders. For tics, the categories of 'Tourette's disorder', 'chronic motor or vocal tic disorder' and 'unspecified tic disorder' have been maintained, whereas the category 'transient tics' has disappeared and 'provisional tic disorder' and 'other specified tic disorders' have been incorporated. Within stereotypic movement disorder, the DSM-5 replaces 'non-functional' by 'apparently purposeless'; the thresholds of the need for medical care are withdrawn and replaced with the manual's standard involvement criterion; mental retardation is no longer mentioned and emphasis is placed on the severity of the stereotypic movement; and a criterion concerning the onset of symptoms and specifiers of the existence or not of self-injurious behaviours have been added, together with the association with genetic or general medical diseases or extrinsic factors. Moreover, a categorisation depending on severity has also been included.Trastornos motores en los trastornos del neurodesarrollo. Tics y estereotipias.Los tics son movimientos o vocalizaciones repetitivos, bruscos, rapidos y no ritmicos, resultantes de contracciones musculares subitas, abruptas e involuntarias. Las estereotipias son movimientos repetitivos, aparentemente impulsivos, ritmicos y carentes de propositividad, que siguen un repertorio individual propio de cada individuo y que se presentan bajo un patron temporal variable, bien transitorio o persistente. Ambos se incluyen en el Manual diagnostico y estadistico de los trastornos mentales, quinta edicion (DSM-5), en los trastornos del neurodesarrollo, y conforman, junto con el trastorno del desarrollo de la coordinacion, el grupo de trastornos motores. Para los tics se han mantenido las categorias de 'trastorno de Tourette', 'trastorno de tics motor o vocal cronico' y 'trastorno de tics no especificado'; desaparece la categoria de 'tics transitorios' y se incorporan el 'trastorno de tics provisional' y 'otros trastornos de tics especificados'. En el trastorno de movimientos estereotipado, el DSM-5 sustituye 'no funcional' por 'aparentemente carente de sentido', se retiran los umbrales de necesidad de atencion medica y se sustituyen por el criterio de afectacion estandar del manual, se omite la alusion al retraso mental para matizar la gravedad del movimiento estereotipado, y se añaden un criterio de inicio de sintomas y especificadores de existencia o no de comportamientos autolesivos, asi como de asociacion a enfermedades geneticas, medicas generales o factores extrinsecos. Se incluye, ademas, una categorizacion en funcion de la gravedad.

We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the possibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain. ( J Child Neurol 2001;16:858—862).

We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain. (J Child Neurol 1999; 14: 131-135).

Serum levels of free, acyl, and total carnitine were determined in 32 patients with seizures, before and after 3, 6, and 12 months of treatment with valproic acid (17 patients), carbamazepine (10 patients), or phenobarbital (5 patients). In all three treated groups, both free and total carnitine levels showed a significant decline with respect to pretreatment levels. This decline was most marked and most consistent in patients treated with valproic acid. In 35% of the patients in this group, carnitine deficiency (ie, total camitine < 30 μmol/L) was observed by month 12. In none of the three groups were serum carnitine levels significantly correlated with the serum concentration of the drug. These findings suggest a need to monitor serum carnitine levels in children treated with any of these drugs. (J Child Neurol 1998;13:546-549).

Introducción: La presentación de convulsiones benignas durante una gastroenteritis leve sin deshidratación ni fiebre es una asociación descrita con relativa frecuencia en Asia. Sin embargo, son escasas las referencias al tema fuera de dicho continente. Se trata de un proceso benigno que no implica un mayor riesgo de epilepsia ni de deterioro neuropsíquico. Casos clínicos: Se describe el caso de dos niñas ingresadas en nuestro departamento en el último año por presentar convulsiones durante una gastroenteritis leve. En ambos casos las crisis fueron autolimitadas y la evolución benigna. Conclusiones: Esta entidad no se presenta exclusivamente en Asia y es probable que sea más frecuente en nuestro medio de lo que se ha comunicado. Es importante tenerla presente ante un paciente con gastroenteritis y crisis convulsivas con el fin de evitar un tratamiento antiepiléptico agresivo y/o prolongado. : Introduction: The occurrence of benign seizures in association with viral gastroenteritis without dehydration or fever is well recognized in Asia, but it is virtually unknown in other parts of the world. This is a benign process that does not lead to a greater risk of epilepsy or developmental deterioration. Case reports: We describe two infants who were admitted to our department over a 1-year period with acute convulsions and mild gastroenteritis. The seizures were brief and did not recur after the first day. In both cases the outcome was excellent. Conclusions: This entity does not appear exclusively in Asia and its frequency may have been underestimated in Spain. This diagnosis should be borne in mind in patients with gastroenteritis and seizures to avoid intensive and/or prolonged antiepileptic treatment.

Introduccion. El estimulador vagal es una alternativa terapeutica en los pacientes con epilepsia refractaria al tratamiento con farmacos antiepilepticos que no son candidatos a cirugia de reseccion. Objetivo. Analizar la eficacia del estimulador vagal en los pacientes pediatricos de nuestro centro. Pacientes y metodos. Conjunto de 13 pacientes implantados entre los anos 2008 y 2013. Se registro la frecuencia de crisis previa a la implantacion, al ano, a los dos anos y al final del seguimiento. Asimismo, se recogio el numero de farmacos antiepilepticos utilizados, de forma cualitativa la mejoria conductual y el cambio en la intensidad de las crisis, asi como la aparicion de efectos secundarios y la retirada o no del dispositivo. Resultados. Al ano, a los dos anos y al final del seguimiento se habia producido una reduccion en el numero de crisis del 61%, 66,7% y 69%, respectivamente, y uno de los pacientes se encontro libre de crisis a los dos anos. Al final del seguimiento, un 23% de los que habian disminuido sus crisis habia experimentado una reduccion superior al 90%. De forma independiente al efecto sobre el numero de crisis, el 77% de los pacientes presento una mejoria en la intensidad y duracion de las crisis, y ese mismo porcentaje mostro una mejoria conductual. Los efectos secundarios aparecieron en un 30,7% de los pacientes y fueron de intensidad leve. Conclusiones. A pesar del pequeno tamano de la muestra, nuestros resultados indican que el estimulador vagal tiene una eficacia relevante en la poblacion pediatrica farmacorresistente, tanto sobre la frecuencia e intensidad de las crisis como sobre la conducta.

The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indicates the possible existence of a primary adenosine monophosphate deaminase deficiency manifested by congenital muscle weakness and hypotonia.

There is evidence that valproic acid causes a reduction of serum biotinidase enzyme activity. We determined the serum concentration of antiepileptic drugs, transaminases, γ-glutamyl transferase, ammonia, and biotinidase enzyme activity in 57 children treated with valproic acid, in 17 children treated with carbamazepine, and in 75 age- and sex-matched healthy controls. There were no significant differences in the serum biotinidase enzyme activity between the patients treated with valproic acid, the patients treated with carbamazepine, and the control group. Hyperammonemia was detected in 8 patients treated with valproic acid. Hair loss was observed in 3 female patients treated with valproic acid, and the alopecia disappeared with the oral administration of biotin (10 mg/ d) in 3 months. These results suggest that the treatment with valproic acid does not alter the serum biotinidase enzyme activity.

We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare. Despite the few cases reported, in our view Ohtahara syndrome should be considered as one of the forms of presentation of mitochondrial dysfunction.

The demonstration that myostatin may negatively regulate muscle mass in adult individuals has raised the possibility of targeting the myostatin pathway to increase muscle growth in a variety of muscle-degenerative and -wasting conditions. To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with neurogenic muscular atrophy, in others with myotonia congenita, in others with infantile glycogenosis type II, in others with Prader-Willi syndrome, and in 4 age-matched controls. No differences in the pattern of myostatin expression were found in any case, even in those patients with prominent muscular atrophy or hypertrophy. These findings suggest that muscle alterations that can be observed in primary muscle diseases do not depend on changes in myostatin expression.

The concentration levels of serum free thyroxine, serum free triiodothyronine, and thyroid-stimulating hormone were measured in 20 children receiving carbamazepine, 32 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment, and (2) 3 months after the end of treatment with antiepileptic drugs. Patients during chronic treatment revealed significant changes in serum thyroid hormones, especially the children treated with carbamazepine and valproic acid. A number of children receiving long-term therapy with the two last antiepileptic drugs had varying grades of subclinical hypothyroidism. Three months after the end of treatment, a complete return to normal of all parameters was observed. These data demonstrate that the changes induced by these drugs are transient and reversible.

Introduccion. Los sindromes de microdelecion y microduplicacion 3q29 se caracterizan por una marcada heterogeneidad fenotipica, y el retraso del desarrollo y la discapacidad intelectual de grado leve-moderado son las manifestaciones clinicas mas frecuentes. Casos clinicos. Dos pacientes con aberraciones cromosomicas reciprocas en la region 3q29. La paciente con la microdelecion 3q29 presenta dificultades de aprendizaje, microcefalia limite, dismorfismo facial leve, deficit atencional e impulsividad, y rasgos ansiosos y obsesivos. El paciente con la microduplicacion 3q29 reciproca presenta dificultades de aprendizaje, dismorfismo facial leve y un perfil conductual disruptivo no asociado previamente con esta duplicacion. Conclusion. Se comparan los fenotipos de estos pacientes y se revisa la bibliografia de pacientes pediatricos con microdeleciones y microduplicaciones 3q29.

We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a nonconsanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type. ( J Child Neurol 2005;20:76—78).

Tics are repetitive, sharp, rapid, non-rhythmic movements or utterances that are the result of sudden, abrupt and involuntary muscular contractions. Stereotypies are repetitive, apparently impulsive, rhythmic, purposeless movements that follow an individual repertoire that is specific to each individual and that occur under a variable time pattern, which may be either transient or persistent. Both are included in the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), among the neurodevelopmental disorders, and together with coordination development disorder go to make up the group of motor disorders. For tics, the categories of 'Tourette's disorder', 'chronic motor or vocal tic disorder' and 'unspecified tic disorder' have been maintained, whereas the category 'transient tics' has disappeared and 'provisional tic disorder' and 'other specified tic disorders' have been incorporated. Within stereotypic movement disorder, the DSM-5 replaces 'non-functional' by 'apparently purposeless'; the thresholds of the need for medical care are withdrawn and replaced with the manual's standard involvement criterion; mental retardation is no longer mentioned and emphasis is placed on the severity of the stereotypic movement; and a criterion concerning the onset of symptoms and specifiers of the existence or not of self-injurious behaviours have been added, together with the association with genetic or general medical diseases or extrinsic factors. Moreover, a categorisation depending on severity has also been included. © 2014 Revista de Neurologia.

We report a child with recurrent syncopal episodes who underwent head-up tilt testing according to a protocol that includes continuous and noninvasive measurement of brain oxygen saturation. We demonstrated significant cerebral hypoxemia during syncope without concomitant systemic hemodynamic disturbances. This response to head-up tilt test suggested the diagnosis of cerebral syncope.

We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.

We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain. (J Child Neurol 1996;11:108-111).

Introduccion. El desarrollo del sistema nervioso central es un proceso dinamico determinado geneticamente y modulado por factores neuroquimicos, nutricionales y ambientales. Desarrollo. Se hace referencia al efecto neuroprotector que ejercen sobre el neurodesarrollo los factores nutricionales pre y perinatales, con especial referencia a la nutricion proteico-energetica, los acidos grasos poliinsaturados de cadena larga, ciertas vitaminas, algunos minerales y la colina, asi como a la influencia que tienen algunas situaciones metabolicas maternas anormales y la ingesta de ciertas sustancias pseudonutritivas por parte de la mujer gestante. Conclusion. Para un adecuado neurodesarrollo es fundamental que la mujer gestante reciba, incluso desde antes de la concepcion, un aporte idoneo de macro y de micronutrientes.

Introduccion. Las hipoplasias pontocerebelosas son un grupo de trastornos neurodegenerativos hereditarios de etiopatogenia no aclarada. Se ha descrito su asociacion con deficiencias de complejos de la cadena respiratoria mitocondrial (CRM) y con los trastornos congenitos de la glicosilacion. Atendiendo a criterios clinicos y neuropatologicos se distinguen dos fenotipos en esta entidad. La hipoplasia pontocerebelosa tipo 1 se caracteriza por la hipoplasia del puente y del cerebelo asociada a la degeneracion de las motoneuronas del asta anterior de la medula espinal. Caso clinico. Nina de 4 anos que presentaba un retraso psicomotor grave asociado a microcefalia, una importante hipotonia generalizada, hipotrofia de masas musculares, contracturas en las cuatro extremidades, ausencia de reflejos de estiramiento y epilepsia de comienzo en el periodo neonatal. En la resonancia magnetica cerebral se observo una hipoplasia pontocerebelosa. El estudio electromioneurografico mostro un trazado compatible con neuropatia axonal y la biopsia del musculo deltoides una atrofia muscular neurogenica. En el estudio de la CRM en homogenado muscular y en fibroblastos cutaneos se detectaron unos valores del complejo IV en el limite bajo de la normalidad. El estudio genetico de atrofia muscular espinal resulto negativo. Conclusiones. El caso descrito podria encuadrarse dentro de la hipoplasia pontocerebelosa tipo 1. El estudio de la CRM puede ser de interes en las hipoplasias pontocerebelosas con el fin de esclarecer su papel en este trastorno.

Introduccion. El sindrome de leucoencefalopatia posterior reversible (SLPR) se caracteriza por la presentacion aguda y habitualmente transitoria de cefalea, trastornos visuales, depresion del sensorio y convulsiones asociadas a un edema cerebral en las regiones posteriores del cerebro. Se ha descrito su asociacion con multiples procesos y eventualmente con el sindrome hemolitico uremico (SHU). Aportamos un nuevo caso de SLPR en el contexto de un SHU. Caso clinico. Nino de 4 anos con un SHU, que desarrollo una hipertension arterial de dificil control y una insuficiencia renal que preciso una terapia de reemplazo renal. Durante el curso de la enfermedad presento varios episodios transitorios de cefalea, disminucion del nivel de conciencia y crisis convulsivas. La resonancia magnetica evidencio multiples lesiones en la sustancia blanca y el cortex hiperintensas en T2 e hipointensas en T1 localizadas en la zona occipital bilateral y frontotemporoparietal derecha. La recuperacion clinica fue completa en un periodo de dias, si bien una resonancia magnetica realizada a las seis semanas del ultimo episodio mostro una remision parcial de las lesiones y un pequeno infarto cerebral. Conclusiones. El SLPR es un trastorno cuya patogenia no se ha aclarado. Su origen multifactorial sugiere que diferentes mecanismos pueden estar implicados. En el caso presentado es posible que la hipertension arterial, la retencion de fluidos e incluso la dialisis hayan contribuido a su desarrollo.