[Neonatal onset of epileptic syndromes. Causations and diagnostic process]. / Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.

Neonatal convulsions are the most frequent form of expression of neurological pathology in the neonatal period. They represent a neurological emergency and thus require urgent diagnosis and treatment, as they are associated with a high risk of neonatal mortality or adverse neurological prognosis. Most neonatal convulsions are symptomatic and secondary to an identifiable causation. The causes vary widely. In this review we describe the electroclinical and aetiological aspects, and we also analyse the process of diagnosing the main epileptic syndromes in newborn infants. The importance of their diagnosis is due to the fact that some disorders are amenable to specific treatments, as in the case of some channelopathies or inborn errors of metabolism that are sensitive to vitamins. Early diagnosis and treatment are therefore essential to prevent a catastrophic outcome.

TITLE: Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.Las convulsiones neonatales constituyen la forma de expresion mas frecuente de patologia neurologica en el periodo neonatal. Son una emergencia neurologica y por ello requieren un diagnostico y tratamiento urgente, puesto que asocian un riesgo elevado de mortalidad neonatal o de pronostico neurologico adverso. La mayoria de las convulsiones neonatales son sintomaticas y secundarias a una etiologia identificable. Las causas son muy heterogeneas. En esta revision describiremos los aspectos electroclinicos y etiologicos, y analizaremos el proceso diagnostico de los principales sindromes epilepticos del recien nacido. La importancia de su diagnostico se debe a que algunos trastornos son susceptibles de tratamientos especificos, como el caso de algunas canalopatias o los errores congenitos del metabolismo sensibles a vitaminas, por lo que el diagnostico y el tratamiento precoz son fundamentales para evitar una evolucion catastrofica.

[X-linked adrenoleukodystrophy with an atypical radiological pattern]. / Adrenoleucodistrofia ligada al X con patron radiologico atipico.

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. CASE REPORT: We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment. Magnetic resonance imaging of the brain showed symmetrical involvement of the white matter in the left frontoparietotemporal region, and calcifications were observed in the computerised axial tomography scan. X-ALD was confirmed by means of the elevated levels of very long-chain fatty acids, and a pathogenic variant was found in the ABCD1 gene. CONCLUSIONS: Symmetrical demyelination with calcifications has rarely been reported in X-ALD, and these findings could delay diagnosis. This exceptional presentation should always be taken into consideration in children with subacute onset of motor symptoms and cognitive or behavioural regression.

TITLE: Adrenoleucodistrofia ligada al X con patron radiologico atipico.Introduccion. La adrenoleucodistrofia ligada al X (ALD-X) es la enfermedad peroxisomica mas frecuente. Se debe a una mutacion en el gen ABCD1. La perdida de la funcion de ABCD1 provoca una betaoxidacion inefectiva de los acidos grasos de cadena muy larga, lo que provoca la acumulacion de estos acidos grasos. La alteracion tipica en la neuroimagen en la forma cerebral es la desmielinizacion periventricular simetrica y de localizacion posterior. Caso clinico. Niño de 10 anos, con hemiparesia espastica derecha y deterioro cognitivo subagudo. La resonancia magnetica cerebral mostro afectacion asimetrica de la sustancia blanca en la region frontoparietotemporal izquierda, y en la tomografia axial computarizada se visualizaban calcificaciones. Se confirmo ALD-X mediante la elevacion de los niveles de acidos grasos de cadena muy larga, y se encontro una variante patogenica en el gen ABCD1. Conclusiones. La desmielinizacion asimetrica con calcificaciones raramente se ha descrito en la ALD-X, y estos hallazgos podrian retrasar el diagnostico. Esta presentacion excepcional se deberia considerar siempre en niños con inicio subagudo de sintomas motores y regresion cognitiva o del comportamiento.

[Moebius sequence: clinico-radiological findings]. / Secuencia de Moebius: hallazgos clinicorradiológicos.

INTRODUCTION: Moebius syndrome is an infrequent congenital, non-progressive disorder that is defined by facial palsy (usually bilateral) and oculomotor compromise. Its clinical spectrum is variable but it affects other cranial nerves and is associated with multiple malformations. PATIENTS AND METHODS: We report the clinical, neurological and neuroimaging features and the progress of 20 patients (16 males and 4 females) who satisfied diagnostic criteria for Moebius sequence. RESULTS: Ages at the first visit ranged from 9 days to 23 months. Births had been normal in 50% of the patients. Facial nerve compromise was observed in all cases, 70% being bilateral. Cranial nerves VI (85%), XII (40%), VIII (25%) and IX (60%) were also involved. Perinatal respiratory distress was seen in 35% of the patients, apnoeas in 25% and retarded development in 60% of cases. They also presented other associated malformations such as microretrognathia, ogival palate, club foot, hand and foot malformations, and four cases presented unilateral agenesis of the pectoralis major. An electromyogram study showed absence of spontaneous and voluntary activity and muscle evoked potentials on stimulating the facial nerve; magnetic resonance imaging of the brain showed hypoplasia of the trunk, agenesis of the cranial nerves and abnormalities in the posterior fossa in three of the ten cases in which the scan was performed. CONCLUSIONS: The association of multiple malformations and dysfunction of the cranial nerves suggests a disruption in the process of morphogenesis during the embryonic period, and therefore Moebius syndrome is considered to be a malformative sequence.

Secuencia de Moebius: hallazgos clinicorradiológicos / Moebius sequence: clinico-radiological findings

Introducción. El síndrome de Moebius es un trastorno congénito infrecuente y no progresivo, definido por una parálisis facial habitualmente bilateral y afectación oculomotora. Su espectro clínico es variable, afecta a otros pares craneales y se asocia con malformaciones múltiples. Pacientes y métodos. Se describen las características clínicas, neurológicas, de neuroimagen y evolución de 20 pacientes, 16 de sexo masculino y 4 de sexo femenino, que cumplen los criterios diagnósticos de la secuencia de Moebius. Resultados. El rango de edad en la primera consulta fue de 9 días a 23 meses. El 50% nació mediante parto eutócico. Todos los casos presentaron la afectación del nervio facial, el 70% bilateral. Otros pares afectados fueron el VI (85%), XII (40%), VIII (25%) y IX (60%). Un 35% presentó distrés respiratorio perinatal, apneas en un 25% y retraso del desarrollo en el 60% de los casos. Presentaron otras malformaciones asociadas como microrretrognatia, paladar ojival, pies zambos, malformaciones en manos y pies, y cuatro casos presentaron agenesia del pectoral mayor unilateral. El electromiograma mostró ausencia de la actividad espontánea, voluntaria y potenciales musculares evocados al estímulo del nervio facial, y en la resonancia magnética cerebral se observaron hipoplasia del tronco, agenesia de los pares craneales y anomalías de la fosa posterior en tres casos de los diez en los cuales se realizó. Conclusión. La asociación de malformaciones múltiples y la disfunción de los pares craneales sugieren una disrupción en la morfogénesis del tronco en el período embrionario, por lo que el síndrome de Moebius se considera una secuencia malformativa

Introduction. Moebius syndrome is an infrequent congenital, non-progressive disorder that is defined by facial palsy (usually bilateral) and oculomotor compromise. Its clinical spectrum is variable but it affects other cranial nerves and is associated with multiple malformations. Patients and methods.We report the clinical, neurological and neuroimaging features and the progress of 20 patients (16 males and 4 females) who satisfied diagnostic criteria for Moebius sequence. Results. Ages at the first visit ranged from 9 days to 23 months. Births had been normal in 50% of the patients. Facial nerve compromise was observed in all cases, 70% being bilateral. Cranial nerves VI (85%), XII (40%), VIII (25%) and IX (60%) were also involved. Perinatal respiratory distress was seen in 35% of the patients, apnoeas in 25% and retarded development in 60% of cases. They also presented other associated malformations such as microretrognathia, ogival palate, club foot, hand and foot malformations, and four cases presented unilateral agenesis of the pectoralis major. An electromyogram study showed absence of spontaneous and voluntary activity and muscle evoked potentials on stimulating the facial nerve; magnetic resonance imaging of the brain showed hypoplasia of the trunk, agenesis of the cranial nerves and abnormalities in the posterior fossa in three of the ten cases in which the scan was performed. Conclusions. The association of multiple malformations and dysfunction of the cranial nerves suggests a disruption in the process of morphogenesis during the embryonic period, and therefore Moebius syndrome is considered to be a malformative sequence