Anomalías cromosómicas subteloméricas en pacientes con retraso mental criptogénico / Subtelomeric rearrangements in cryptogenic mental retardation

Introducción: El retraso mental afecta al 3% de la población. En el 50% no es posible determinar la etiología. Las alteraciones cromosómicas submicroscópicas subteloméricas, no detectables con técnicas citogenéticas convencionales, pueden explicar algunos casos de retraso mental criptogénicos. Pacientes y métodos: Cohorte de 200 pacientes, con edades comprendidas entre los 2,5 y los 15 años, y retraso psicomotor (< 6 años) o retraso mental (> 6 años) criptogénicos. Variables: grado de retraso, dismorfias (faciales, manuales, macrosomía/microsomía), crecimiento intrauterino retardado, epilepsia. Identificación de reordenamientos cromosómicos subteloméricos mediante MLPA (multiplex ligation dependent probe amplification), que detecta pérdidas o ganancias de material genético. Confirmación de los hallazgos patológicos mediante FISH (fluorescent in situ hybridization) y/o array de CGH (comparative genomic hybridization). Resultados: Se detectaron anomalías subteloméricas en 9 pacientes, lo que representa el 4,5% de los casos. El estudio de progenitores demostró en un caso una traslocación en equilibrio. El resto eran alteraciones «de novo». Existía asociación significativa con la presencia de más de un rasgo fenotípico dismórfico o el antecedente de crecimiento intrauterino retardado, pero no con el grado de retraso ni con la presencia de epilepsia. Conclusiones: Las alteraciones cromósomicas submicroscópicas subteloméricas explican el 4,5% de los retrasos mentales de causa desconocida en nuestra serie. En nuestra población se asocian a la presencia de más de un rasgo fenotípico anormal o al antecedente de crecimiento intrauterino retardado (AU)

Introduction: Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause. Patients and methods: A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array). Results: A subtelomeric aberration was identified in 9 patients. Eight were «de novo»; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy. Conclusions: Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration (AU)

Análisis descriptivo de las meningitis víricas en nuestro hospital. Características diferenciales entre niños y adultos / Descriptive analysis of viral meningitis in a general hospital: differences in the characteristics between children and adults

Introducción y objetivos: nuestro estudio pretende identificar las características clínicas y epidemiológicas de las meningitis víricas en nuestro medio, así como ver las diferencias existentes con la edad. Material y métodos: estudio retrospectivo de las meningitis víricas que han precisado ingreso en nuestro hospital entre los años 2000 y 2008. Se comparan las características entre los grupos de niños (menores de 15 años) y adultos (15 años o mayores). Resultados: las meningitis víricas predominan en varones, aumentan durante los meses de verano y el germen más implicado es el enterovirus. Los niños acuden al hospital con menor tiempo de evolución y su estancia media es menor. En la analítica los niños presentan datos de mayor alteración sistémica, mientras que en los adultos las alteraciones a nivel del líquido cefalorraquídeo son más importantes. Conclusiones: las meningitis víricas en nuestro medio son más frecuentes en varones y en los meses de verano. La clínica de presentación y los pródromos son similares en niños y adultos, aunque la estancia media es menor en niños probablemente porque en estas edades la clínica tenga una evolución más recortada. Los datos analíticos reflejan que los niños presentan una mayor inflamación sistémica, pero menor a nivel del LCR probablemente porque la punción lumbar se lleve a cabo más precozmente que en adultos. Los enterovirus son los patógenos más frecuentes tanto en niños y adultos (AU)

Introduction and objectives: our study aims to identify the clinical and epidemiological characteristics of viral meningitis in our environment and observe the differences with age. Material and methods: retrospective study of viral meningitis that required admission to our hospital between 2000 and 2008. We compare characteristics between groups of children (under 15 years) and adults (15 years or older). Results. The viral meningitis prevalent in males, is higher during the summer months and the agent most involved is enterovirus. Children are seen in the hospital with shorter time of onset and their average stay is less. In children, the analytical data show greater systemic disorder, whilst in adults the in the cerebrospinal fluid anomalies are more important. Conclusions: the viral meningitis in our environment is more common in males and in summer months. The clinical presentation and prodrome is similar in children and adults, although the average hospital stay is less in children of this age probably because the clinical outcome is shorter. The analytical data show that children have a higher systemic inflammation but lower CSF level, probably because lumbar puncture is performed earlier than in adults. Enteroviruses are common pathogens in both children and adults (AU)

[Subtelomeric rearrangements in cryptogenic mental retardation]. / Anomalías cromosómicas subteloméricas en pacientes con retraso mental criptogénico.

INTRODUCTION: Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause. PATIENTS AND METHODS: A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array). RESULTS: A subtelomeric aberration was identified in 9 patients. Eight were «de novo¼; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy. CONCLUSIONS: Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration.

Descriptive analysis of viral meningitis in a general hospital: differences in the characteristics between children and adults.

INTRODUCTION AND OBJECTIVES: our study aims to identify the clinical and epidemiological characteristics of viral meningitis in our environment and observe the differences with age. MATERIAL AND METHODS: retrospective study of viral meningitis that required admission to our hospital between 2000 and 2008. We compare characteristics between groups of children (under 15 years) and adults (15 years or older). Results. The viral meningitis prevalent in males, is higher during the summer months and the agent most involved is enterovirus. Children are seen in the hospital with shorter time of onset and their average stay is less. In children, the analytical data show greater systemic disorder, whilst in adults the in the cerebrospinal fluid anomalies are more important. CONCLUSIONS: the viral meningitis in our environment is more common in males and in summer months. The clinical presentation and prodrome is similar in children and adults, although the average hospital stay is less in children of this age probably because the clinical outcome is shorter. The analytical data show that children have a higher systemic inflammation but lower CSF level, probably because lumbar puncture is performed earlier than in adults. Enteroviruses are common pathogens in both children and adults.

Síndromes polimalformativos con expresión en el sistema nervioso central / Polymalformative syndromes with expression in the central nervous system

Objetivos: Determinar las características de los síndromes polimalformativos con expresión en el sistema nervioso central (SNC) detectados en el periodo neonatal, e investigar los factores de riesgo maternos asociados. Material y métodos: Estudio retrospectivo, durante el periodo comprendido entre enero de 1976 y diciembre de 2005, realizado en el Servicio de Pediatría del Hospital Universitario de Guadalajara. Se incluyeron en el estudio todos los recién nacidos en nuestro hospital con síndromes polimalformativos con expresión en el SNC. Resultados: Durante el periodo de estudio, se recogieron siete casos de niños con malformaciones congénitas del SNC y síndrome polimalformativo. Las anomalías más frecuentes fueron la hidrocefalia congénita y los defectos del tubo neural. Los factores de riesgo encontrados fueron las infecciones durante la gestación, la radiación ionizante, la toma de algunos fármacos y la consanguinidad. Conclusiones: Los síndromes polimalformativos con expresión en el SNC tienen una etiología multifactorial, que comprende tanto factores ambientales como genéticos (AU)

Objectives: To determine the clinical aspects of polymalformatives syndromes with expression in the central nervous system detected in the neonatal period, and to investigate the associated maternal risk factors. Material and methods: Retrospective study, during the period of January 1976 to December 2005, carried out in the Pediatrics Department of the University Hospital of Guadalajara, Spain. All the newborns in our hospital with polymalformatives syndromes with expression in the central nervous system were included in the study. Results: During the study period 7 children were recorded with congenital defects of the central nervous system and a polymalformative syndrome. The most frequent anomalies were congenital hydrocephalus and neural tube defects. The risk factors found in the study were maternal infections during pregnancy, ionizing radiation, medications and consanguinity. Conclusions: The polymalformatives syndromes with expression in the central nervous system seem to have a multifactorial etiology, comprising both environmental and genetic components (AU)

Malformaciones congénitas del sistema nervioso central en la provincia de Guadalajara / Congenital malformations of the central nervous system in the province of Guadalajara

Objetivos: 1. Determinar la incidencia y distribución de las malformaciones congénitas del sistema nervioso central detectadas en el período neonatal en la provincial de Guadalajara. 2. Investigar los factores de riesgo asociados. Material y Método: Estudio retrospectivo, durante el período enero de 1976 a diciembre de 2005. Se incluyeron todos los recién nacidos en el hospital de Guadalajara con malformaciones congénitas del sistema nervioso central. Se recogieron variables demográficas, el tipo de malformación y los factores de riesgo. Resultados: Durante el período de estudio se detectaron 34 niños con malformaciones congénitas del sistema nervioso central (incidencia de 1/1.000 nacidos vivos). Los anomalías más frecuentes fueron los defectos del tubo neural (60%), especialmente la espina bífida y los cefaloceles. Los factores de riesgo encontrados fueron las infecciones durante la gestación, la administración de determinados fármacos, la falta de suplementación con ácido fólico y la consanguinidad. Conclusiones: Los defectos del tubo neural constituyen las malformaciones más comunes detectadas en nuestro estudio. La etiología de las malformaciones del sistema nervioso central es multifactorial, comprendiendo tanto factores ambientales como genéticos (AU)

Objectives: To determine the frequency and the pattern of distribution of congenital anomalies of the central nervous system detected in the neonatal period in the Spanish province of Guadalajara. 2. To investigate associated risk factors. Material and Methods: Retrospective study during the period involved January 1976 to December 2005. All the newborns with congenital anomalies of the central nervous system were included in the study. Demographic variables, the specific type of congenital anomaly and associated risk factors were recorded. Results: During the study period 37.776 births were recorded, of which 34 had a congenital defect of the central nervous system (incidence of 1/1.000 live newborns). The most frequent anomalies were neural tube defects (60%), most of them bifid spine and encephaloceles. The risk factors found in the study were maternal infections during pregnancy, anticonvulsant medications and consanguinity. Conclusions: Neural tube defects were the most common central nervous system malformations found in our study. Congenital anomalies of the central nervous system seen to have a multifactorial etiology, comprising both environmental and genetic factors (AU)

Ataxia aguda y meningitis aséptica secundarias a quiste dermoide de fosa posterior / Acute ataxia and aseptic meningitis secondary to a posterior fossa dermoid cyst

No disponible

[Cerebral polymicrogyria and 22q11 deletion syndrome]. / Polimicrogiria cerebral y síndrome de deleción 22q11.

INTRODUCTION: Chromosome 22q11 microdeletion syndrome, DiGeorge syndrome or CATCH 22 spectrum, is characterised by conotruncal heart malformations, facial dysmorphisms, cleft palate, velopharyngeal insufficiency, transient hypocalcemia and T cell disorders. Furthermore, a significant number of patients may present autism-type developmental disorders, learning disabilities, attention deficit hyperactivity disorder or schizophrenia-like psychiatric problems. CASE REPORT: A girl with congenital heart disease that had been treated surgically in the neonatal period, who presented psychomotor retardation, dysmorphic features and microcephaly. The conventional karyotype study that was performed at birth was normal. The physical examination revealed subtle signs of left hemiparesis. A neuroimaging study showed polymicrogyria-type cortical dysplasia that involved the right frontotemporal cortex. A chromosomal study was conducted and findings showed a 22q11.2 chromosome deletion. CONCLUSIONS: Brain malformations in children with deletion of the 22q11.2 chromosome have been reported previously, but their real prevalence and the most frequent type of malformation have not been properly determined. The authors conclude that brain malformations should be studied in all patients with 22q11.2 deletion and it should be borne in mind that all patients with cortical dysplasias may present this deletion.

Polimicrogiria cerebral y síndrome de deleción 22q11 / Cerebral polymicrogyria and 22q11 deletion syndrome

Resumen. Introducción. El síndrome de microdeleción del cromosoma 22q11, síndrome de DiGeorge o espectro CATCH 22, se caracteriza por malformaciones cardíacas conotruncales, dismorfismos faciales, paladar hendido, insuficiencia velofaríngea, hipocalcemia transitoria y alteraciones de las células T. Además, un significativo número de pacientes puede presentar alteraciones del desarrollo de tipo autismo, problemas de aprendizaje, trastorno por déficit de atención/hiperactividad o problemas psiquiátricos de tipo esquizofrenia. Caso clínico. Niña con una cardiopatía congénita intervenida en el período neonatal que presentó retraso psicomotor, rasgos dismórficos y microcefalia. El cariotipo convencional que se le realizó al nacer fue normal. En la exploración física presentaba signos sutiles de hemiparesia izquierda. El estudio por neuroimagen demostró una displasia cortical de tipo polimicrogiria que afectaba al córtex frontotemporal derecho. Se realizó un estudio cromosómico que mostró una deleción cromosómica 22q11.2. Conclusiones. Hay comunicaciones previas de malformaciones cerebrales en niños con deleción del cromosoma 22q11.2, pero su prevalencia real y el tipo de malformación más frecuente no están bien establecidos. Los autores concluyen que las malformaciones cerebrales deberían estudiarse en todos los pacientes con una deleción 22q11.2 y la posibilidad de presentar esta deleción debería considerarse en todos los pacientes con displasias corticales (AU)

Summary. Introduction. Chromosome 22q11 microdeletion syndrome, DiGeorge syndrome or CATCH 22 spectrum, is characterised by conotruncal heart malformations, facial dysmorphisms, cleft palate, velopharyngeal insufficiency, transient hypocalcemia and T cell disorders. Furthermore, a significant number of patients may present autism-type developmental disorders, learning disabilities, attention deficit hyperactivity disorder or schizophrenia-like psychiatric problems. Case report. A girl with congenital heart disease that had been treated surgically in the neonatal period, who presented psychomotor retardation, dysmorphic features and microcephaly. The conventional karyotype study that was performed at birth was normal. The physical examination revealed subtle signs of left hemiparesis. A neuroimaging study showed polymicrogyriatype cortical dysplasia that involved the right frontotemporal cortex. A chromosomal study was conducted and findings showed a 22q11.2 chromosome deletion. Conclusions. Brain malformations in children with deletion of the 22q11.2 chromosome have been reported previously, but their real prevalence and the most frequent type of malformation have not been properly determined. The authors conclude that brain malformations should be studied in all patients with 22q11.2 deletion and it should be borne in mind that all patients with cortical dysplasias may present this deletion (AU)

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)]. / Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.(a) revisión (CIE-9), 5.(a) edición (2006).

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.

Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, novena revisión (CIE-9), quinta edición (2006) / Coding in neuropediatrics based on the international classification diseases, 9 th revision (ICD-9), 5 th edition ( 2006)

Objetivos. Análisis y adaptación consensuada de la codificación de la Clasificación Internacional de Enfermedades, 9.ª revisión (CIE-9), a los motivos de consulta, diagnósticos y procedimientos en neurología pediátrica. Materiales y métodos. Se seleccionan los motivos de consulta, diagnósticos y procedimientos más frecuentes en neuropediatría y se les asignael código más apropiado de la CIE-9-MC (5.ª ed.) según las normas de codificación de dicho sistema. Se han agrupado las patologías por secciones, las cuales se han adjudicado a los distintos miembros del grupo de trabajo (13 neurólogos pediátricos de 10 hospitales de Madrid capital y área periférica). Resultados. Se exponen en www.neurologia.com/cie-9. Se han asignadocódigos de la CIE-9-MC (5.ª ed.) a 158 motivos de consulta, 886 diagnósticos, 73 procedimientos diagnósticos y 53 procedimientos terapéuticos. Siempre se ha intentado buscar el código de la CIE-9 más apropiado para los distintos diagnósticos.No se han inventado códigos, aunque el grupo de trabajo se ha tomado algunas libertades de interpretación que respetan la filosofía general de la CIE-9-MC y que se describen en el texto. Conclusión. La creación de esta adaptación de la CIE-9 potenciará la codificación diagnóstica en los servicios de neurología pediátrica, dotándolos además de una herramienta útil parala elaboración de bases de datos que permitan el análisis retrospectivo de la información, y compartirla entre los distintos centros

Aims. To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensusbasis, to ‘reasons for medical consultation’, ‘diagnoses’ and ‘procedures’ in child neurology. Materials and methods. The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned themost appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system’s coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). Results. Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the workinggroup did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. Conclusions. The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to beretrospectively analyzed and shared by the different health centers

Síndrome de Rasmussen / Rasmussen´s syndrome

No disponible

[Treatment of Lesch-Nyhan syndrome]. / Tratamiento del síndrome de Lesch-Nyhan.

AIM: We have reviewed the treatments employed to alleviate the different manifestations of the Lesch Nyhan syndrome, the adverse reactions related to these treatments, and the prospectives of future therapeutic approaches now under active research. DEVELOPMENT: Lesch Nyhan syndrome is an X linked inherited disorder of purine metabolism caused by the deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT). Clinical features include overproduction of uric acid and a neurologic syndrome related to the severity of the enzyme defect. CONCLUSIONS: Treatment with xanthine oxidase inhibitors is effective for the control of the elevated renal excretion of uric acid, but there is no specific treatment for the neurologic symptoms. Due to the low frequency of the syndrome and to the incomplete understanding of the pathophysiologic mechanisms underlying the neurologic manifestations, the treatments employed are merely symptomatic.

Tratamiento del síndrome de Lesch-Nyhan / Treatment of Lesch-Nyhan syndrome

Objetivo. En este trabajo se revisan los tratamientos empleados hasta la fecha, dirigidos a paliar las diversas manifestaciones características del síndrome de Lesch-Nyhan (SLN), los efectos adversos registrados y las líneas actuales de investigación que abren futuras esperanzas terapéuticas. Desarrollo. El SLN es un defecto congénito del metabolismo de las purinas ocasionado por el déficit de la enzima hipoxantina-guanina fosforribosiltransferasa (HPRT). Desde el punto de vista clínico se caracteriza por hiperuricemia y trastornos neurológicos graves, que parecen relacionarse con la magnitud del defecto enzimático. Conclusiones. La escasa frecuencia del SLN, junto con el desconocimiento de la fisiopatología de los trastornos neurológicos, explica que la terapéutica se fundamente en recomendaciones sintomáticas. Los fármacos inhibidores de la enzima xantina oxidasa ayudan a controlar la excreción elevada de ácido úrico, pero hasta la fecha no se ha encontrado ningún tratamiento eficaz para los síntomas neurológicos (AU)

[Blood neuronal specific enolase in newborns with perinatal asphyxia]. / Enolasa específica neuronal sanguínea en neonatos con asfixia perinatal.

INTRODUCTION: Neuron-specific enolase (NSE) is a sensitive marker of brain injury after hypoxia or ischemia. There are few studies about its usefulness in asphyctic newborns. OBJECTIVE: To study the correlation between blood NSE levels and neurological outcome in newborns with hypoxic ischemic encephalopathy. PATIENTS AND METHODS: We have determined the blood values of NSE by radioimmunoassay in 25 asphyctic term-newborns with clinical encephalopathy (of mild, moderate and severe degree) and in 22 healthy term newborns (control group). Blood samples were obtained between 24 and 72 hours after birth in all neonates. Surviving infants were followed for a variable time (median: 3.5 years; range: 1-6) and the neurological status was determined. RESULTS: NSE levels in the group of asphyctic neonates who died or developed neurological sequelae (n= 6; mean: 116.4 ng/ml; range: 42-226) were significantly higher than NSE values in the group of asphyctic neonates who were neurologically normal at follow-up (n= 19; mean: 21.3 ng/ml; range: 7.4-40), with p< 0.001. There were not differences between NSE values in the group of asphyctic neonates who developed neurologically normal and the control group (mean: 7.6 ng/ml; range: 10.3-28.3). Sensitivity and specificity of blood NSE as predictor of poor outcome were, respectively, 100% and 78%. The combined specificity for blood NSE together with a moderate/severe encephalopathy was 95%. CONCLUSIONS: The presence of elevated NSE values in blood after perinatal asphyxia can be a sensitive indicator of conspicuous brain damage. The combined information provided by the severity of the encephalopathy together with the blood NSE values have shown a high predictive value for neurological outcome.

[Partial seizures in a newborn with tuberous sclerosis]. / Crisis parciales en recién nacido con esclerosis tuberosa.

Tuberous sclerosis is characterized by the potential for hamartomatous growth in multiple organs. Common manifestations are hypomelanotic spots, facial angiofibromas, subependymal hamartomas, cortical tubers, cardiac rhabdomyomas, retinal hamartomas, and so on. Seizures and mental retardation are frequent. It is an autosomal dominant disease but there is a high percentage of spontaneous mutations. Neonatal diagnosis is exceptional. We report a case of a female term newborn who presented partial motor seizures at the third day of life. Physical examination revealed only a disturbance of cardiac rhythm. Echocardiography showed ventricular intramural rhabdomyomas. Magnetic resonance imaging disclosed periventricular subependymal nodules and cortical tubers. A retinal hamartoma was found in the right eye. At the age of 1 month, hypomelanotic spots were evident on the back skin. The patient had infantile spasms, followed by poorly controlled partial complex seizures together with severe psychomotor retardation. Examination of both parents was normal. We discuss the uncommon diagnosis of tuberous sclerosis during the neonatal period, as well as the exceptional mode of presentation of our patient, with seizures in the early neonatal period, a phenomenon rarely reported in the literature.

Crisis parciales en recién nacido con esclerosis tuberosa / Partial seizures in a newborn with tuberous sclerosis

La esclerosis tuberosa es un síndrome neurocutáneo caracterizado por el crecimiento de hamartomas en distintos órganos. Son hallazgos típicos: manchas cutáneas hipocrómicas, angiofibromas faciales, nódulos subependimarios, tubérculos corticales, rabdomiomas cardíacos, hamartomas retinianos, etc. Son frecuentes la epilepsia y el retraso psicomotor. La herencia es autosómica dominante, aunque muchos de los casos son esporádicos. Rara vez debutan en el período neonatal. Se describe un recién nacido a término, mujer, sin antecedentes de interés, que ingresa al tercer día de vida por presentar crisis convulsivas clónicas de miembros izquierdos. A la exploración física presenta una arritmia cardíaca con extrasístoles, siendo el resto normal. La ecocardiografía demostró la presencia de rabdomiomas. La resonancia magnética cerebral evidenció túberes corticales y nódulos subependimarios. En el examen de fondo de ojo se encontró un hamartoma retiniano derecho. Al mes de vida eran ya evidentes máculas cutáneas acrómicas. En su evolución, la niña presentó espasmos infantiles y, posteriormente, crisis parciales complejas de difícil control farmacológico asociadas a un grave retraso psicomotor. El estudio de los padres fue normal. Queremos destacar la infrecuencia del diagnóstico de esclerosis tuberosa durante el período neonatal, así como el carácter excepcional del debut en nuestra paciente como crisis convulsivas en el período neonatal precoz, pocas veces referido en la literatura (AU)