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
The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.
Assuntos
Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/patologia , Polidactilia/genética , Polidactilia/patologia , Estenose da Valva Aórtica/patologia , Encéfalo/diagnóstico por imagem , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Megalencefalia/genética , Megalencefalia/patologia , Gravidez , Radiografia , Ultrassonografia Pré-NatalRESUMO
Bobble-head doll syndrome (BHDS) presents in childhood and is usually associated with lesions of the third ventricle. This disorder is characterized by stereotypical head movements of the type "yes-yes" (up and down) at a frequency of 2 to 3 Hz. Rarely, movements of the type "no-no" (side-to-side) are described. There are a few hypotheses to explain the mechanism responsible for BHDS, but its real pathophysiological characteristics are still unknown. The authors describe the case of a child born with hydrocephalus and Dandy-Walker syndrome. A ventriculoperitoneal shunt was implanted in the child because of progressive head enlargement. One year after shunt placement, she began making frequent horizontal head movements of the type "no-no". There were no other signs or symptoms. Imaging studies demonstrated small ventricles and a posterior fossa cyst with no signs of hypertension. The child's growth, development, and head circumference (within the 5th percentile) remained satisfactory. Three aspects of this case were of interest: the association of BHDS with Dandy-Walker syndrome, the rare occurrence of BHDS of the "no-no" type, and the absence of third ventricle dilation. The authors' findings support the hypothesis that cerebellar malformations themselves can
Assuntos
Síndrome de Dandy-Walker/patologia , Síndrome de Dandy-Walker/fisiopatologia , Discinesias/patologia , Movimentos da Cabeça , Derivações do Líquido Cefalorraquidiano , Síndrome de Dandy-Walker/cirurgia , Discinesias/etiologia , Feminino , Humanos , Hidrocefalia/patologia , Hidrocefalia/fisiopatologia , Hidrocefalia/cirurgia , Lactente , Imageamento por Ressonância Magnética , Terceiro Ventrículo/anormalidades , Terceiro Ventrículo/patologia , Tomografia Computadorizada por Raios XRESUMO
Infantile hydrocephalus is a common disease. In most affected children the process starts before the age of 2 when the bregmatic fontanel is still open. Brain sonography has emerged as an effective tool in diagnosing progressive ventricle dilation and may be used for continuous follow-up. It gives such important information as: (a) cortical thickness, an expression of proper shunt function and of prognostic value concerning neuropsychological development; (b) position of the tip of the catheter, which is considered by some to be a predictive factor of shunt failure; (c) other complications such as subdural collections, isolated IV ventricle, and slit ventricles. This methodology permits frequent examinations and allows better comprehension of the pathological process by the parents and medical staff.
Assuntos
Ecoencefalografia , Hidrocefalia/diagnóstico por imagem , Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/patologia , Derivações do Líquido Cefalorraquidiano , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/patologia , Síndrome de Dandy-Walker/cirurgia , Seguimentos , Humanos , Hidrocefalia/etiologia , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Lactente , Pressão Intracraniana/fisiologia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/patologiaRESUMO
Ventriculoperitoneal or cyst-peritoneal shunts are the usual treatment for children with Dandy-Walker syndrome. A combined ventricular and cyst shunt is often necessary and, in some cases, multiple revisions have to be done. Two patients with this syndrome were treated with posterior fossa exploration and cyst fenestration after several shunt revisions. The procedure was well tolerated with good results in both cases. The patients' data and preliminary results are presented here.