Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P = .04) and 10 had neurological impairment (P = .008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P < .001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values > 2 were correlated with psychomotor retardation (P < .001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome. / Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. AIM: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population. PATIENTS AND METHODS: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. RESULTS: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01). CONCLUSION: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.

TITLE: Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.Introducción. El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos. Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (CandA-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos. Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados. Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la CandA-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p menor de 0,01). La gravedad de los tics se relacionó con una peor calidad de vida (PedsQL, R2: ­0,707; p menor de 0,01; y CandA-GTS-QOL, R2: ­0,501; p = 0,021). Una mayor puntuación la escala de Conners revisada para el TDAH se relacionó con peor calidad de vida (PedsQL, R2: ­0,463; p = 0,03; y CandA-GTS-QOL, R2: ­0,534; p menor de 0,01). Conclusión. La prevalencia de comorbilidades psiquiátricas en el síndrome de Gilles de la Tourette en nuestro medio es alta y frecuentemente infradiagnosticada. Los tics y las comorbilidades psiquiátricas afectan a la calidad de vida. Son necesarios estudios que validen la CandA-GTS-QOL.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection. / Asociación entre neuroimagen y secuelas neurológicas en pacientes con infección congénita por citomegalovirus.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values >2 were correlated with psychomotor retardation (P<.001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Ischaemic stroke in children with cardiopathy: An epidemiological study. / Ictus isquémico en niños con cardiopatía: estudio epidemiológico.

INTRODUCTION: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. PATIENTS AND METHODS: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014. RESULTS: We included 74 children with heart disease who were eligible for inclusion. 60% were boys with a mean stroke age of 11 months. 20% of the patients died during the study period. 90% of the patients had a congenital heart disease, while cyanotic heart disease was identified in 60%. Hypoplastic left heart syndrome was the most frequent heart disease. In 70% of patients AIS was directly associated with heart surgery, catheterisation or ventricular assist devices. Most patients with AIS were in the hospital. Seizures and motor deficit were the most frequent symptoms. Most patient diagnoses were confirmed by brain CT. The AIS consisted of multiple infarcts in 33% of the cases, affected both hemispheres in 27%, and involved the anterior and posterior cerebral circulation in 10%. CONCLUSIONS: Arterial ischaemic strokes were mainly associated with complex congenital heart diseases, and heart procedures and surgery (catheterisation). AIS presented when patients were in-hospital and most of the patients were diagnosed in the first 24hours.

[Visuospatial functions and prematurity]. / Funciones visuoespaciales y prematuridad.

Visuospatial functions are very important in learning process and development of abstract thought during childhood. Several studies show that preterm and low birth weight infants obtain lower scores in test that assess cognitive functions, specially in the first year of life. These differences are attenuated over time, but a developmental delay that affects working memory and visuospatial process still persists. It is unclear what factors are involved in development of these functions, and pre- or perinatal factors may interfere with the proper conduct of the same, but have been described anatomical and physiological differences between the preterm and term brain that could explain somewhere in these alterations. The different selective vulnerability to hypoxia between immature brain in which preoligodendrocytes and subplate neurons predominate, and mature brain, determine differences in the pattern of injury from hypoxia with greater involvement of the periventricular white matter in preterm children. This lesional pattern leaves to a dysfunction in attentional and visuospatial process, due to the increased vulnerability of the regions involved in the dorsal pathway of visual processing.

TITLE: Funciones visuoespaciales y prematuridad.Durante la infancia, las funciones visuoespaciales son importantes en los procesos de aprendizaje y en el desarrollo del pensamiento abstracto. Diferentes estudios muestran que los niños prematuros o con bajo peso al nacer obtienen menores puntuaciones en los tests que valoran las funciones cognitivas, siendo estas diferencias mas pronunciadas durante el primer año de vida. Con el tiempo, estas diferencias se van atenuando, pero persiste un retraso madurativo que afecta a la memoria de trabajo y a los procesos visuoespaciales. No esta claro cuales son los factores implicados en el desarrollo de estas funciones y que factores pre o perinatales pueden interferir en su buen desarrollo, pero se han descrito diferencias anatomicas y fisiologicas entre el cerebro del niño pretermino y el termino que podrian explicar, en parte, alguna de estas alteraciones. La diferente vulnerabilidad selectiva a la hipoxia entre el cerebro inmaduro, en el que predominan las neuronas de la subplaca y los preoligodendrocitos, y el cerebro maduro del niño nacido a termino determinan diferencias en el patron de lesion por hipoxia con mayor afectacion de la sustancia blanca periventricular en el niño pretermino. Este patron lesional conlleva una disfuncion en los procesos atencionales y visuoespaciales debido a la mayor vulnerabilidad de las regiones que intervienen en la ruta dorsal del procesamiento visual.

[Early stimulation in newborns with birth weight between 1,000 and 1,500 g: is it always necessary?]. / Estimulación precoz en los recién nacidos con peso al nacer entre 1.000 y 1.500g. ¿Es siempre necesaria?

OBJECTIVE: To determine whether the currently widespread practice of sending all premature infants with birth weight between 1,000 and 1,500 g to early care centres is necessary from a neurological point of view, or if it is possible to establish selection criteria. MATERIAL AND METHODS: A retrospective study of newborns (NB) at our hospital between January 1998 and December 2004 with birth weight between 1,000 and 1,500 g, and followed up for at least two years in a paediatric neurology clinic. We analysed the prognostic significance of the different neurological variables in the neonatal period, and those of greater significance were set at a score for deciding the start of early stimulation treatment on discharge from neonatology. RESULTS: A total of 194 infants met the above criteria. The most significant neurological prognostic variables were: gestational age < 28 weeks, male sex, intraventricular haemorrhage grade > I, history of high risk pregnancy, sepsis, anaemia with haemodynamic repercussion and fundamentally abnormal neurological examination at discharge (odds ratio of 16). A prognostic score was developed with a cut-off of 4 points, with an area under the curve of 88.3%. The positive predictive value and negative predictive value were 43.75% and 96.2%, respectively, with 84.8% sensitivity and 78.9% specificity. CONCLUSIONS: The newborns with birth weight between 1,000 and 1,500 g and normal neurological examination at discharge, with a score of less than 4 points, do not require early stimulation treatment from a neurological standpoint, given its predictable good outcome.

[Arterial ischaemic stroke in children with cardiac diseases]. / Ictus arteriales isquémicos en niños con cardiopatías.

INTRODUCTION: The incidence of cerebral stroke in children has significantly increased in last years. Heart diseases are one of the best known risk factors in pediatric stroke. AIM. To describe the characteristics of the cerebral stroke in children with heart diseases, emphasizing in predisposing conditions, time to diagnosis, management and follow-up of patients. PATIENTS AND METHODS: We performed a retrospective study in children suffering from heart diseases with cerebral stroke admitted to our hospital that comprised 10 years. Type of cardiopathy, associated factors like surgery or catheterization, study of thrombophilia, clinical findings, methods and time to diagnosis, primary and secondary prophylaxis, treatment and long-term neurologic outcome were analyzed. RESULTS: Twenty patients were included in our study (age: from neonatal period to 15 years), eighteen of them were children with congenital cardiac disease. Eleven patients had antecedent of surgery and/or catheterism in the previous month. The most common clinical presentation was focal seizures. Time from clinical onset to diagnosis of stroke was longer than 24 hours in 60% of our patients. Fifty per cent of our patients did not receive any primary prophylaxis. Treatment was initiated in 70% of patients, but no one received thrombolysis. CONCLUSIONS: It is crucial to consider stroke when children with heart diseases show any neurologic symptom. Optimal diagnostic strategies must be established to low the delay of diagnosis in these patients, as well as randomised clinical trials in order to establish uniform guidelines in pediatric stroke.

[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.

[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.

[Kinesic paroxysmal familial choreoathetosis: presentation of a case]. / Coreoatetosis paroxística cinesigénica familiar: presentación de un caso.

Report of a case of kinesic paroxysmal choreoathetosis in a family (as far as we know the first case of a family on record in Spanish) which responded very well to treatment with low doses of carbamazepine. The characteristics of this infrequent clinical entity are also discussed.

[Congenital long QT-interval syndrome]. / Síndrome del intervalo QT largo congénito.

Authors report one pediatric patient with prolonged QT-interval syndrome. Importance of this syndrome is based on the possibility of syncopal episodes, due to serious arrhythmias, and sudden death. Therapeutics protocols and prophylactic treatment's indications. They are reviewed conclude that familial study is necessary in congenital type and that better therapeutical results are achieved with propranolol than with others drugs.

[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases]. / Distrofia muscular con participación del sistema nervioso central. A propósito de dos casos españoles.

Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.

[Mental evolution of 108 cases with craniosynostosis (author's transl)]. / Evolución mental de 108 casos con craneosinostosis.

A study of mental development of 108 patients with craniosynostosis is performed. A serious mental retardation was evident in the majority of patients with "clover leaf" and in those with acrocephalosyndactily types Appert and Chotzen, and also when they had trigonocephaly. Oxicephaly, Crouzon's disease, plagiocephaly and Carpenter's and Pfeiffer's diseases show usually a moderate and/or middle retardation. Scaphocephaly has a mental evolution with a normal I.Q., but probability for presenting perinatal hipoxia because the size and aspect of the head is high.

[Etiology of mental deficiency. Study based on 3735 cases (author's transl)]. / Factores etiológicos de la deficiencia mental. Estudio de 3735 casos.

A study on the etiology of MD was done on 3735 children with mental retardation. Selection of patients was verified by precise alphabetical train in order to obtain the different factors of MD with objectivity. The highest percentage of MD was constituted by pathology concerning pre- and/or peripartum problems (53.78%), being on the contrary very low the percentage of MD of unknown etiology (8.219%). Authors think that it is possible to verified correct diagnosis of cases with MD if the clinical knowledge is large the adequate para-clinical studies (biochemistry, EEG, EMG, cytogenetic and neuroradiology) are practised. The unknown etiology of MD must be low. In their opinion MD accompanying CNS malformations and dysmorphic syndromes must not be classified as MD of unknown etiology. Emphasis is done on the necessity of having in consideration real percentages of etiological factors when programs for education of subnormal children are developed.