RESUMEN
UNLABELLED: Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development. CONCLUSION: Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients.
Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/rehabilitación , Atresia de las Coanas/diagnóstico , Atresia de las Coanas/rehabilitación , Coloboma/diagnóstico , Coloboma/rehabilitación , Discapacidades del Desarrollo/etiología , Oído/anomalías , Genitales/anomalías , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/rehabilitación , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/rehabilitación , Postura , Vestíbulo del Laberinto/anomalías , Vestíbulo del Laberinto/diagnóstico por imagen , Niño , Preescolar , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/rehabilitación , Femenino , Humanos , Masculino , Estudios Prospectivos , Sensibilidad y Especificidad , Síndrome , Tomografía Computarizada por Rayos X , Pruebas de Función VestibularRESUMEN
Iopentol (Imagopaque); 300 mg I/ml was compared with ioxaglate (Hexabrix; 320 mg I/ml in 89 patients (45 and 44 patients, mean age 8.5 and 7.9 years in the contrast groups, respectively), in paediatric intravenous CT contrast enhancement. The dose injected was 2 ml/kg b.w. with an upper limit of 100 ml. There was a total of 18 patients who reported adverse events other than sensations of heat or cold, 6 (13%) in the iopentol group and 12 (27%) in the ioxaglate group. Two patients (4%) in the iopentol group reported possible contrast-related events as described above, whereas the number was 8 (18%) in the ioxaglate group. There was no statistically significant difference between the two groups regarding adverse events, blood pressure, nor heart rate changes after injection. The overall quality of CT enhancement was excellent or sufficient in 96 and 93% of the cases in the iopentol and ioxaglate groups, respectively. Iopentol was shown to be a safe and effective contrast medium in examinations of children.
Asunto(s)
Medios de Contraste , Ácido Yoxáglico , Tomografía Computarizada por Rayos X , Ácidos Triyodobenzoicos , Adolescente , Presión Sanguínea/efectos de los fármacos , Peso Corporal , Niño , Preescolar , Frío , Medios de Contraste/administración & dosificación , Medios de Contraste/efectos adversos , Método Doble Ciego , Femenino , Frecuencia Cardíaca/efectos de los fármacos , Calor , Humanos , Inyecciones Intravenosas , Ácido Yoxáglico/administración & dosificación , Ácido Yoxáglico/efectos adversos , Masculino , Intensificación de Imagen Radiográfica , Seguridad , Sensación , Ácidos Triyodobenzoicos/administración & dosificación , Ácidos Triyodobenzoicos/efectos adversosRESUMEN
The authors study 26 children with macrocranium and pericerebral effusion as diagnosed by C.T. Three groups are described: 10 with the classical C.T. features of subdural effusion, 12 with features of external hydrocephalus and 4 with massive pericerebral effusion. C.T. performed after lumbar subarachnoid injection of contrast medium, shows that all the effusions are subdural. In only one case, opacification of the subdural space occurred. The authors conclude that plain C.T. alone is unable to demonstrate the precise localization of pericerebral effusion in children and that all these effusions are, in their experience, subdural in localization.
Asunto(s)
Hidrocefalia/diagnóstico por imagen , Meningitis/diagnóstico por imagen , Mielografía , Efusión Subdural/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Enfermedad Crónica , Femenino , Humanos , Hidrocefalia/fisiopatología , Lactante , Masculino , Cintigrafía , Efusión Subdural/fisiopatologíaRESUMEN
The neuro-radiological findings in 38 cases of precocious puberty of central origin and 9 cases of hypopituitarism (craniopharyngiomas excepted), are reported. The radiological examination consisted of plain films of the skull and pneumo-encephalography. In the 9 cases with hypopituitarism radiological examination was normal in 4 and localised but quite diverse anomalies were discovered in 5. Out of 38 patients presenting with isosexual precocious puberty, 29 were female and 9 male. Out of the 29 girls, neuro-radiological examination was normal in 20 and showed a hypothalamic anomaly in 9. Out of the 9 boys, 8 had a hypothalamic anomaly, and only one examination was normal. In precocious puberty we found 1 ectopic pinealoma and 2 gliomas of the chiasma. In these three cases the clinical context and radiological examination made the diagnosis obvious. Masses were discovered in 7 (3 spongioblastomas and 4 heterotopias). In 2 cases (spongioblastomas) neurological symptoms were present and made an operation mandatory. In 5 cases (1 spongioblastoma, 4 heterotopias) precocious puberty was an isolated finding. It was not possible to make, on a clinical or radiological bases, a distinction between spongioblastoma and heterotopia. As time has passed the role of surgery has changed. Formerly, surgery aimed at excision of the lesion, but with advances in medical treatment surgical intervention is now directed towards biopsy and the histological study of lesions which may be treated by radiotherapy.