RESUMO
INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. CONCLUSIONS: Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.
TITLE: Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).Introduccion. El sindrome de Ritscher-Schinzel (tambien conocido como displasia craneo-cerebelo-cardiaca o sindrome 3C) es un sindrome genetico raro que se caracteriza principalmente por la asociacion de anomalias cardiacas, craneofaciales y de la fosa posterior. Pacientes y metodos. Se describen 26 pacientes con sindrome de Ritscher-Schinzel pertenecientes a un hospital de Medellin en el departamento de Antioquia, Colombia. Resultados. La presente cohorte esta compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenia menos de 1 año de edad en el momento del diagnostico. Todos presentaban afectacion ocular, y la megalocornea fue la manifestacion ocular mas frecuente (69%), mientras que las orejas de implantacion baja (80,7%) y los defectos cardiacos septales (68,7%) fueron las malformaciones faciales y cardiacas mas comunes, respectivamente. Las malformaciones de la fosa posterior mas frecuentes fueron megacisterna magna (31,8%) y malformacion de Dandy-Walker (27%). El 84% tenia retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueleticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar unico, dedos sobrelapados, astragalo vertical e hipoplasia ungueal en las manos y los pies se hallo en el 96% de los casos. Conclusiones. El sindrome de Ritscher-Schinzel es heterogeneo desde el punto de vista genetico y clinico. Estos resultados sugieren que las anormalidades esqueleticas y oculares observadas pueden facilitar el diagnostico fenotipico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificacion de otros genes implicados en este sindrome.
Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Fossa Craniana Posterior/anormalidades , Anormalidades Craniofaciais/genética , Síndrome de Dandy-Walker/genética , Deficiências do Desenvolvimento/genética , Anormalidades do Olho/genética , Comunicação Interatrial/genética , Deficiência Intelectual/genética , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Colômbia , Córnea/anormalidades , Anormalidades Craniofaciais/patologia , Síndrome de Dandy-Walker/patologia , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Comunicação Interatrial/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Retrospectivos , SíndromeRESUMO
INTRODUCTION: The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. AIM: To evaluate the neurodevelopment of babies born to HIV-1 positive mothers (exposed) and compare with babies born to HIV-1 negative mothers (unexposed). SUBJECTS AND METHODS: We carried-out an observational prospective study of neurodevelopment of 23 exposed and 20 unexposed children using the infant development scale Bayley-II, and the Denver-II test, neurological examination and anthropometric measurements during the first two years of life. RESULTS: None of the exposed babies acquired the infection. At one month of age the exposed babies exhibit normal but statistically lower values in the head circumference, compared to unexposed neonates. No differences were found in the psychomotor development index between both studied groups and exposed babies exhibited a lower mental development index but only at six months of age. The exposed babies exhibited a higher number of alterations during the neurological and Denver-II tests without reaching significant differences. CONCLUSIONS: The results suggest that intrauterine exposure to HIV-1 and to antiretrovirals in uninfected children born to HIV-1 positive mothers does not induce alterations in the neurodevelopment, at least during the first two years of life.
Assuntos
Sistema Nervoso Central/crescimento & desenvolvimento , Sistema Nervoso Central/fisiologia , Desenvolvimento Infantil/fisiologia , Infecções por HIV/fisiopatologia , HIV-1 , Mães , Sistema Nervoso Central/virologia , Pré-Escolar , Feminino , Soropositividade para HIV , Humanos , Lactente , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Estudos ProspectivosRESUMO
INTRODUCTION: Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. AIM: To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with radiological findings. PATIENTS AND METHODS: Thirty-five Colombian children (17 males and 18 females) with a neuroimaging diagnosis at a mean age of 20.2 months were characterised phenotypically. RESULTS: A history of perinatal events such as neonatal asphyxia (21.6%) and meconium-stained amniotic fluid (10.8%) were detected, together with maternal histories of failure to attend prenatal check-ups (34.3%), risk of preterm labour (10.8%) and smoking (10.8%). Familial histories of neurological diseases included epilepsy (14.3%) and mental retardation (5.7%). The open-lip type was predominant (60%) and was twice a common as the closed-lip type. Unilateral cases accounted for 62.9% of the total number, with a distribution between the two hemispheres in the same proportion, and 37.1% of cases were bilateral. The frontal lobe that was the most commonly involved. The most frequent manifestations were delayed psychomotor development (80%) and infantile cerebral palsy (80%). Epilepsy was present in 37.1% of cases and the predominant type of seizure was complex focal. CONCLUSIONS: Tendencies similar to those reported in other series were observed, although with some differences, such as the higher mean age at the time of diagnosis and the lower incidence of resistant epilepsy. Limited access to prenatal check-ups, open-lip presentation, associated malformations and poor response to treatment seem to exacerbate the prognosis.
Assuntos
Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/genética , Tomografia Computadorizada por Raios X , Criança , Pré-Escolar , Colômbia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos RetrospectivosRESUMO
INTRODUCTION: Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. AIM: To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. PATIENTS AND METHODS: With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. RESULTS: The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. CONCLUSION: The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology.
Assuntos
Família , Síndrome de Tourette/genética , Adolescente , Criança , Pré-Escolar , Colômbia , Feminino , Ligação Genética , Genótipo , Humanos , Escore Lod , Masculino , Linhagem , Fenótipo , Síndrome de Tourette/fisiopatologiaRESUMO
INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioural disorder among schoolchildren. It may persist into adulthood and affect performance in the academic, social, occupational and familial spheres, and increase the use and abuse of alcohol and psychoactive substances and the risk of having an accident. Its prevalence throughout the world varies widely and further knowledge about this situation would be valuable for the development of policies in the sector of education. AIMS: The aim of this research was to determine the prevalence of ADHD and its distribution according to subtypes in schoolchildren from Sabaneta, Antioquia, Colombia, in 2001. SUBJECTS AND METHODS: The analysis involved a cross-sectional descriptive study using a representative randomised multistage sample (which was proportional to the size of the groups) of schoolchildren between 4 and 17 years old. Measurement was performed in two stages, first by application of a screening form according to DSM IV criteria, and later a structured interview, Conners' and Intelligence tests. RESULTS: Prevalence was found to be 20.4% and 15.8% if only children with an intelligence quotient of 80 or above were considered. The combined subtype was the most frequent, with 9.6%. In public schools it was 16.2%, private 15.3%, age group from 7-11 years 16.9%, 12-17 years old 14.2%, males 20.9%, females 10.1%, low 14.7%, medium 17.4% and high socioeconomic level 10.7%, with a male to female prevalence ratio of 3.88 to 1. CONCLUSIONS: Prevalence of ADHD in the school population in a municipality in the Metropolitan Area of Medellin, Colombia, is high. The most frequent subtype was the combined type, which was predominant in males, had repercussions on academic performance and low proportions of pharmacological interventions for the disorder (15%). Programmes must be developed for the detection of this problem and subsequent intervention in the school population.