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2.
Brain Dev ; 40(4): 348-352, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29295802

RESUMO

INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control. Laboratory tests were congruent with PDE. She remained seizure-free until age five months, when seizures reappeared in the context of increasing head size and irritability. A cranial ultrasound showed hydrocephalus, for which she underwent ventriculoperitoneal shunting. DISCUSSION: Seven other patients with same features have been previously reported. Seizure onset occurred within the first 7 days in all patients. Most of the children developed hydrocephalus at 6-7 months of age. In 4 out of 7 a genetic mutation was identified, despite the accurate etiology of hydrocephalus was unknown in most of them. The case we report behaved similarly to the others previously described. We postulate that the pathogenesis of this complication could be related to the high expression of antiquitin in choroid plexus epithelium, where the cerebrospinal fluid is produced. CONCLUSIONS: patients with PDE should be closely monitored, since they may present severe complications. We highlight the development of hydrocephalus, an uncommon but potentially life-threatening problem reported in 8 patients up to present time.


Assuntos
Epilepsia/complicações , Hidrocefalia/complicações , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Epilepsia/terapia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/fisiopatologia , Hidrocefalia/cirurgia , Lactente
4.
Rev. neurol. (Ed. impr.) ; 65(1): 19-25, 1 jul., 2017. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-164582

RESUMO

Introducción. La parálisis braquial obstétrica se relaciona con la distocia de hombros, y su principal factor de riesgo es la macrosomía. Su incidencia se estima entre 0,1 y 6,3 casos por 1.000 recién nacidos vivos. La mayoría de los casos se resuelve, pero puede provocar déficit funcional permanente, por lo que es de interés identificar posibles factores pronósticos. Pacientes y métodos. Estudio descriptivo de los recién nacidos con parálisis del plexo braquial obstétrica nacidos en el hospital entre los años 2011 y 2015. Se han recogido variables maternas, perinatales, obstétricas y del tipo de lesión, y se han relacionado con la posibilidad de la recuperación a los seis meses. Resultados. Se diagnosticaron 32 casos, lo que supone una incidencia del 1,44‰ de recién nacidos vivos. El 59% fueron varones, y el 37,5%, macrosómicos. La afectación más frecuente fue la lesión del plexo a nivel proximal (94%). El 44% sufrió distocia de hombros, y el 47% permaneció con secuelas al sexto mes. El antecedente de distocia de hombros se relacionó con mal pronóstico de recuperación. Conclusiones. La incidencia de parálisis braquial obstétrica se mantiene estable en los últimos años. El porcentaje de niños que presentan secuelas a los seis meses es relevante. Son necesarios estudios prospectivos para poder establecer los factores pronósticos a largo plazo de esta patología (AU)


Introduction. Obstetric brachial plexus palsy is related with shoulder dystocia, and its main risk factor is macrosomia. Its incidence is estimated to be between 0.1 and 6.3 cases per 1,000 live newborn infants. Most cases are resolved but can give rise to permanent functional deficiency, which means that there is an interest to identify possible prognostic factors. Patients and methods. We conducted a descriptive study of newborn infants with obstetric brachial plexus palsy born in our hospital between the years 2011 and 2015. Maternal, perinatal and obstetric variables, as well as the type of lesion, were collected and were related with the possibility of recovery at six months. Results. Altogether 32 cases were diagnosed, which represents an incidence of 1.44‰ of live newborn infants. 59% were males and 37.5% of them were macrosomic. The most frequent disorder was injury to the plexus at the proximal level (94%). 44% suffered from shoulder dystocia, and 47% still had sequelae at the sixth month. The antecedent of shoulder dystocia was related with a poor prognosis for recovery. Conclusions. The incidence of obstetric brachial plexus palsy has remained stable in recent years. The percentage of children who present sequelae at six months is significant. Prospective studies are needed to be able to establish the longterm prognostic factors of this pathology (AU)


Assuntos
Humanos , Recém-Nascido , Paralisia Obstétrica/complicações , Neuropatias do Plexo Braquial/complicações , Distocia , Macrossomia Fetal/complicações , Prognóstico , Lesão Encefálica Crônica/epidemiologia , Complicações do Trabalho de Parto/epidemiologia
7.
Rev. neurol. (Ed. impr.) ; 64(1): 27-30, 1 ene., 2017. ilus
Artigo em Espanhol | IBECS | ID: ibc-159234

RESUMO

Introducción. La cerebelitis aguda es una de las principales causas de síndrome cerebeloso en la infancia. Entre un amplio elenco de manifestaciones, en el que predominan la cefalea y la ataxia, podemos encontrar otras menos habituales, aunque interesantes, como las alteraciones del lenguaje, más allá de la bien conocida disartria cerebelosa. Las diferentes combinaciones en que pueden aparecer los síntomas, especialmente cuando no se acompañan de ataxia, hacen de este cuadro un verdadero reto para el clínico. Casos clínicos. Se presentan dos pacientes, de 2 y 4 años, con clínica, pruebas de laboratorio y neuroimagen compatibles con cerebelitis aguda parainfecciosa, que asociaron una llamativa alteración del lenguaje, uno en forma de mutismo cerebeloso y otro en forma de hipofluencia y agramatismo, y este último cursaba además en ausencia de ataxia. La evolución de ambos casos fue buena, y persistieron leves alteraciones del habla en el seguimiento posterior. Conclusiones. Casos como éstos amplían el espectro de manifestaciones clínicas de la cerebelitis aguda. Cada vez cobra mayor importancia la participación del cerebelo en procesos neurocognitivos como el lenguaje y, aunque muchos aspectos son aún especulativos, alcanzar a definir su verdadero papel tendrá una repercusión en el diagnóstico, el tratamiento y el pronóstico a largo plazo de estos pacientes (AU)


Introduction. Acute cerebellitis is one of the main causes of cerebellar syndrome in infancy. Among the wide range of manifestations, headache and ataxia being the most predominant, we can find other less frequent, although nonetheless interesting, ones, such as language disorders, which go beyond the well-known cerebellar dysarthria. The different combinations in which the symptoms can appear, especially when not accompanied by ataxia, make the condition a real challenge for the clinician. Case reports. Two patients, aged 2 and 4 years, with clinical features, lab tests and neuroimaging results consistent with parainfectious acute cerebellitis. Both of them also presented a striking language disorder, one in the form of cerebellar mutism and the other in the form of hypofluency and agrammatism, the latter also developing in the absence of ataxia. Both cases progressed favourably, and mild speech alterations persisted in the follow-up visits. Conclusions. Cases such as these expand the range of clinical manifestations of acute cerebellitis. The involvement of the cerebellum in neurocognitive processes like language is becoming increasingly more important and, although many aspects are still only speculations, managing to define its true role will have important repercussions on the diagnosis, treatment and long-term prognosis of these patients (AU)


Assuntos
Humanos , Pré-Escolar , Transtornos da Linguagem/epidemiologia , Doenças Cerebelares/complicações , Disartria/etiologia , Ataxia Cerebelar/complicações , Transtornos Cognitivos/epidemiologia , Mutismo/etiologia
9.
Rev Neurol ; 60(2): 91-2, 2015 Jan 16.
Artigo em Espanhol | MEDLINE | ID: mdl-25583593
11.
Rev. neurol. (Ed. impr.) ; 59(4): 153-157, 16 ago., 2014. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-126336

RESUMO

Introducción. La anemia falciforme es la forma homocigota, grave, de drepanocitosis, un trastorno genético, frecuente en raza negra, caracterizado por la producción de hemoglobina S, anemia hemolítica crónica e isquemia tisular por alteración del flujo sanguíneo. Una cuarta parte de los pacientes presenta manifestaciones neurológicas; el 8-10% de los niños sufrirá un ictus. Objetivo. Analizar los casos de ictus en niños con anemia falciforme en nuestro centro. Pacientes y métodos. Estudio descriptivo retrospectivo de niños con anemia falciforme e ictus. Resultados. Se recogieron cinco pacientes (dos dominicanos y tres guineanos) con anemia falciforme e ictus; un paciente sufrió dos episodios ictales. La edad media fue de 27 meses. Cinco episodios fueron infartos isquémicos. El ictus fue la forma de inicio de la drepanocitosis en tres ocasiones. Dos de los ictus ocurrieron en un contexto de meningitis neumocócica. En cuatro pacientes hubo fiebre previa. La clínica inicial fue hemiparesia en cuatro casos. La hemoglobina media al diagnóstico de ictus fue de 6,5 g/dL. En tres pacientes se hallaron alteraciones en la ecografía transcraneal y, en todos los pacientes, lesiones en la resonancia magnética, que en la mitad eran bilaterales. Tras el ictus se inició un protocolo de régimen hipertransfusional, y sólo un paciente presentó un nuevo ictus, que desarrolló un síndrome moya-moya y fue sometido a una revascularización indirecta, con buena evolución, sin presentar nuevos eventos isquémicos posteriores. Conclusiones. La drepanocitosis es una enfermedad emergente en nuestro medio debido a la inmigración. Debe sospecharse en ictus pediátricos asociados a anemia, sobre todo en menores de 5 años de raza negra no sometidos a cribado neonatal (AU)


Introduction. Sickle-cell anaemia is the severe homozygotic form of drepanocytosis, a genetic disorder that often occurs among black people and which is characterised by the production of haemoglobin S, chronic hemolytic anaemia and tissue ischaemia due to alterations in blood flow. A quarter of the patients presented neurological manifestations; 8-10% of children will have a stroke. Aim. To analyse the cases of stroke in children with sickle-cell anaemia in our centre. Patients and methods. We conducted a retrospective descriptive study of children with sickle-cell anaemia and stroke. Results. Five patients (two Dominicans and three Guineans) with sickle-cell anaemia and stroke; one patient suffered two episodes of stroke. The mean age was 27 months. Five of the episodes were ischaemic infarctions. Stroke was the initial form of presentation of drepanocytosis on three occasions. Two of the strokes occurred within a context of pneumococcal meningitis. Four of the patients had previously reported fever. The initial clinical picture was hemiparesis in four cases. Mean haemoglobin on diagnosing the stroke was 6.5 g/dL. Transcranial ultrasound imaging revealed alterations in three patients and, in all the patients, magnetic resonance imaging revealed lesions, which were bilateral in half the cases. Following the stroke, a hypertransfusion regimen protocol was established and only one patient presented a new stroke. This same patient went on to develop moya-moya disease and was submitted to an indirect revascularisation; the patient progressed well, without presenting any new ischaemic events. Conclusions. Drepanocytosis is a disease that is emerging in our setting as a result of immigration. It should be suspected in cases of paediatric strokes associated to anaemia, above all in black children under the age of five who were not submitted to neonatal screening (AU)


Assuntos
Humanos , Pré-Escolar , Anemia Falciforme/diagnóstico , Anemia Falciforme/etiologia , Hidroxiureia , Acidente Vascular Cerebral
12.
Rev Neurol ; 59(4): 153-7, 2014 Aug 16.
Artigo em Espanhol | MEDLINE | ID: mdl-25059265

RESUMO

INTRODUCTION: Sickle-cell anaemia is the severe homozygotic form of drepanocytosis, a genetic disorder that often occurs among black people and which is characterised by the production of haemoglobin S, chronic hemolytic anaemia and tissue ischaemia due to alterations in blood flow. A quarter of the patients presented neurological manifestations; 8-10% of children will have a stroke. AIM. To analyse the cases of stroke in children with sickle-cell anaemia in our centre. PATIENTS AND METHODS: We conducted a retrospective descriptive study of children with sickle-cell anaemia and stroke. RESULTS: Five patients (two Dominicans and three Guineans) with sickle-cell anaemia and stroke; one patient suffered two episodes of stroke. The mean age was 27 months. Five of the episodes were ischaemic infarctions. Stroke was the initial form of presentation of drepanocytosis on three occasions. Two of the strokes occurred within a context of pneumococcal meningitis. Four of the patients had previously reported fever. The initial clinical picture was hemiparesis in four cases. Mean haemoglobin on diagnosing the stroke was 6.5 g/dL. Transcranial ultrasound imaging revealed alterations in three patients and, in all the patients, magnetic resonance imaging revealed lesions, which were bilateral in half the cases. Following the stroke, a hypertransfusion regimen protocol was established and only one patient presented a new stroke. This same patient went on to develop moya-moya disease and was submitted to an indirect revascularisation; the patient progressed well, without presenting any new ischaemic events. CONCLUSIONS: Drepanocytosis is a disease that is emerging in our setting as a result of immigration. It should be suspected in cases of paediatric strokes associated to anaemia, above all in black children under the age of five who were not submitted to neonatal screening.


Assuntos
Anemia Falciforme/complicações , Isquemia Encefálica/etiologia , Anemia Falciforme/epidemiologia , Encéfalo/patologia , Hemorragia Cerebral/etiologia , Circulação Cerebrovascular , Pré-Escolar , República Dominicana/etnologia , Emigrantes e Imigrantes , Transfusão Total , Feminino , Guiné/etnologia , Humanos , Lactente , Masculino , Meningite Pneumocócica/complicações , Doença de Moyamoya/etiologia , Doença de Moyamoya/cirurgia , Neuroimagem , Paresia/etiologia , Infecções Respiratórias/complicações , Estudos Retrospectivos , Espanha/epidemiologia
15.
Rev Neurol ; 58(2): 55-62, 2014 Jan 16.
Artigo em Espanhol | MEDLINE | ID: mdl-24399621

RESUMO

INTRODUCTION: Between 23% and 25% of epileptic children are refractory to antiepileptic drugs. In recent times there has been a renewed interest in the ketogenic diet as treatment in these patients who are not candidates for other therapeutic options. AIMS. To evaluate the effectiveness and safety of treatment with the ketogenic diet in an important number of paediatric patients with refractory epilepsy in our centre and to determine whether the results obtained are consistent with others recently reported in the literature. PATIENTS AND METHODS: A retrospective review was conducted of the medical records of 41 children with refractory epilepsy treated with the ketogenic diet, mostly the Radcliffe II-type diet, between 1998 and 2011. Their median age on starting the diet was 3.92 years old. RESULTS: At six months after beginning the diet, the number of crises was reduced by at least 50% in 36.84% of the sample (10.53% of the children reached a 90% reduction and 5.26% no longer suffered crises). Around 50% of those in the youngest age group responded positively. Some tolerable, transient side effects were experienced by 58.54% of the patients, consisting mainly in high levels of cholesterol and constipation; no variations in the anthropomorphic parameters were observed. CONCLUSIONS: The ketogenic diet is a good therapeutic alternative in cases of refractory epilepsy in the paediatric age. Moreover, the younger the child is on starting on the diet, the more likely he or she is to gain benefits from it. In general it is well tolerated. Regular check-ups with supervision of these patients' nutrition are of great importance.


Assuntos
Dieta Cetogênica , Epilepsia/dietoterapia , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Resistência a Medicamentos , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Masculino , Aceitação pelo Paciente de Cuidados de Saúde , Estudos Retrospectivos , Resultado do Tratamento
16.
Rev. neurol. (Ed. impr.) ; 58(2): 55-62, 16 ene., 2014. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-118030

RESUMO

Introducción. El 23-25% de los niños epilépticos son refractarios a fármacos antiepilépticos. El interés por la dieta cetogénica como tratamiento en estos pacientes no candidatos a otras opciones terapéuticas ha resurgido últimamente. Objetivo. Valorar la eficacia y seguridad del tratamiento con dieta cetogénica en un importante número de pacientes pediátricos con epilepsia refractaria en nuestro centro y determinar si los resultados obtenidos corroboran otros de publicación reciente. Pacientes y métodos. Se revisaron retrospectivamente las historias clínicas de 41 niños con epilepsia refractaria que fueron tratados con dieta cetogénica entre 1998 y 2011, la mayoría con dieta tipo Radcliffe II. La mediana de edad al inicio de la dieta fue de 3,92 años. Resultados. A los seis meses del inicio de la dieta se redujeron las crisis en al menos un 50% en un 36,84% de la muestra (el 10,53% de los niños alcanzó más de un 90% de reducción y un 5,26% quedó sin crisis). Aproximadamente un 50% por grupo de edad en los más pequeños respondió de manera positiva. Un 58,54% de los pacientes presentó algún efecto secundario, tolerable y transitorio, principalmente elevación de los niveles de colesterol y estreñimiento, sin observarse variación en los parámetros antropométricos. Conclusiones. La dieta cetogénica supone una buena alternativa terapéutica en los casos de epilepsia refractaria en la edad pediátrica, con mayor probabilidad de beneficio cuanto menor sea la edad del niño al inicio de la dieta. En general, es bien tolerada. Son de gran importancia en estos pacientes las revisiones periódicas con control nutricional (AU)


Introduction. Between 23% and 25% of epileptic children are refractory to antiepileptic drugs. In recent times there has been a renewed interest in the ketogenic diet as treatment in these patients who are not candidates for other therapeutic options. Aims. To evaluate the effectiveness and safety of treatment with the ketogenic diet in an important number of paediatric patients with refractory epilepsy in our centre and to determine whether the results obtained are consistent with others recently reported in the literature. Patients and methods. A retrospective review was conducted of the medical records of 41 children with refractory epilepsy treated with the ketogenic diet, mostly the Radcliffe II-type diet, between 1998 and 2011. Their median age on starting the diet was 3.92 years old. Results. At six months after beginning the diet, the number of crises was reduced by at least 50% in 36.84% of the sample (10.53% of the children reached a 90% reduction and 5.26% no longer suffered crises). Around 50% of those in the youngest age group responded positively. Some tolerable, transient side effects were experienced by 58.54% of the patients, consisting mainly in high levels of cholesterol and constipation; no variations in the anthropomorphic parameters were observed. Conclusions. The ketogenic diet is a good therapeutic alternative in cases of refractory epilepsy in the paediatric age. Moreover, the younger the child is on starting on the diet, the more likely he or she is to gain benefits from it. In general it is well tolerated. Regular check-ups with supervision of these patients’ nutrition are of great importance (AU)


Assuntos
Humanos , Dieta Cetogênica , Epilepsia/dietoterapia , Apoio Nutricional/métodos , Anticonvulsivantes/uso terapêutico , Nutrição da Criança
17.
Rev. neurol. (Ed. impr.) ; 57(11): 481-488, 1 dic., 2013. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-117577

RESUMO

Introducción. El síndrome de Aicardi es un trastorno presumiblemente dominante ligado al cromosoma X, que afecta en exclusiva a mujeres, clásicamente definido por la tríada de agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles, letal en varones en la vida intrauterina. Pacientes y métodos. Estudio descriptivo retrospectivo de pacientes diagnosticadas y seguidas hasta el final de la edad pediátrica de síndrome de Aicardi en dos hospitales universitarios durante un período de 29 años. Resultados. Encontramos siete niñas, todas desarrollaron espasmos infantiles antes de los 6 meses de edad. La evolución fue a espasmos más allá de la infancia (n = 2), a epilepsia parcial farmacorresistente (n = 3) y a epilepsia parcial bien controlada (n = 1). Seis casos presentaron retraso mental grave-profundo, y uno, moderado-grave. Fallecieron dos niñas a los 2 y 6 años. En todas, los estudios de neuroimagen mostraron agenesia del cuerpo calloso, quistes intracraneales y malformaciones del desarrollo cortical cerebral, además de lesiones oftalmológicas: lagunas coriorretinianas (n = 7), anoftalmia/microftalmia (n = 4) y coloboma del nervio óptico (n = 3). Otros hallazgos fueron cardiopatía ongénita, anomalías costovertebrales, linfangioma cervical e hipertricosis focal. Conclusiones. El síndrome de Aicardi debe sospecharse en niñas con espasmos infantiles y agenesia del cuerpo calloso. Deben descartarse en estas pacientes las alteraciones oftalmológicas, las anomalías de la migración y organización neuronal y los quistes intracraneales. El pronóstico es grave por su elevada morbimortalidad y por la frecuente evolución a epilepsia refractaria y retraso mental grave (AU)


Introduction. The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males. Patients and methods. Retrospective descriptive study of patients diagnosed with Aicardi syndrome over a period of 29 years in two tertiary pediatric hospitals. Results. We found seven women that developed infantile spasms before 6 months of age, epileptic spasms persisting beyond infancy in two cases, a refractory symptomatic partial epilepsy in three patients, and well-controlled partial epilepsy in one girl. Six cases presented severe-profound mental retardation and moderate-severe in a girl. Two girls died at 2 and 6 years-old. In all patients neuroimaging studies showed agenesis of the corpus callosum, intracranial cysts and malformations of cortical development. Ophthalmological lesions were chorioretinal lacunae in seven cases, anophthalmia/microphthalmia in four girls and optic nerve coloboma in three patients. Other findings were congenital heart disease, costovertebral abnormalities, cervical lymphangioma and focal hypertrichosis. Conclusions. The Aicardi syndrome should be suspected in girls with infantile spasms and agenesis of the corpus callosum. It is necessary to rule out these ophthalmologic abnormalities, malformations of cortical development and intracranial cysts. The prognosis is poor due to its high mortality and its evolution to refractory epilepsy and profound mental retardation (AU)


Assuntos
Humanos , Feminino , Lactente , Síndrome de Aicardi/epidemiologia , Espasmos Infantis/epidemiologia , Agenesia do Corpo Caloso/epidemiologia , Estudos Retrospectivos , Coriorretinite/epidemiologia
18.
Rev Neurol ; 57(11): 481-8, 2013 Dec 01.
Artigo em Espanhol | MEDLINE | ID: mdl-24265141

RESUMO

INTRODUCTION: The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males. PATIENTS AND METHODS: Retrospective descriptive study of patients diagnosed with Aicardi syndrome over a period of 29 years in two tertiary pediatric hospitals. RESULTS: We found seven women that developed infantile spasms before 6 months of age, epileptic spasms persisting beyond infancy in two cases, a refractory symptomatic partial epilepsy in three patients, and well-controlled partial epilepsy in one girl. Six cases presented severe-profound mental retardation and moderate-severe in a girl. Two girls died at 2 and 6 years-old. In all patients neuroimaging studies showed agenesis of the corpus callosum, intracranial cysts and malformations of cortical development. Ophthalmological lesions were chorioretinal lacunae in seven cases, anophthalmia/microphthalmia in four girls and optic nerve coloboma in three patients. Other findings were congenital heart disease, costovertebral abnormalities, cervical lymphangioma and focal hypertrichosis. CONCLUSIONS: The Aicardi syndrome should be suspected in girls with infantile spasms and agenesis of the corpus callosum. It is necessary to rule out these ophthalmologic abnormalities, malformations of cortical development and intracranial cysts. The prognosis is poor due to its high mortality and its evolution to refractory epilepsy and profound mental retardation.


Assuntos
Síndrome de Aicardi/patologia , Síndrome de Aicardi/diagnóstico , Síndrome de Aicardi/epidemiologia , Encéfalo/patologia , Cromossomos Humanos X/genética , Diagnóstico Precoce , Feminino , Humanos , Neuroimagem , Fenótipo , Estudos Retrospectivos , Espanha/epidemiologia , Avaliação de Sintomas , Centros de Atenção Terciária
19.
Fetal Diagn Ther ; 31(1): 12-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22178749

RESUMO

OBJECTIVE: To analyze mid-term neurodevelopment outcome in children with isolated mild ventriculomegaly (VM) ≤12 mm diagnosed in fetal life, using the Battelle Developmental Inventory Screening Test (BDIST). METHODS: 86 cases of mild VM were identified. 68 were excluded due to: other cerebral anomalies (n = 40), extra-cerebral anomalies (n = 3), chromosomal defects (n = 4), dysmorphic syndromes (n = 4), congenital infections (n = 2), termination of pregnancy (n = 9), stillbirth (n = 2) and incomplete follow-up (n = 4). 18 cases (range 1-8 years) of isolated mild VM were included for analysis. Seven neurodevelopment domains were assessed by BDIST. RESULTS: Routine neuropediatrical evaluation detected neurological disorders in five children (28%; 3 with language impairment, one left hemiparesis and one intellectual retardation). BDIST showed some degree of neurodevelopmental delay in higher proportions: 66% in social-personal skills, 56% in gross motor skills, 39% in adaptive behavior and 28% in fine motor skills. Communicative and cognitive areas were the least affected (11 and 22% had moderate-to-severe involvement, respectively). A general trend towards worse outcomes was observed in the group of ≥4 years, although significant differences were only found for gross motor skills. CONCLUSION: Subtle neurological delays may appear during the infant period in fetuses prenatally diagnosed of isolated mild VM. In consequence, adequate measures should be established for early detection and treatment.


Assuntos
Desenvolvimento Infantil , Hidrocefalia/diagnóstico , Diagnóstico Pré-Natal , Criança , Pré-Escolar , Feminino , Humanos , Hidrocefalia/complicações , Lactente , Masculino , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Exame Neurológico , Gravidez , Estudos Retrospectivos
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