RESUMEN
Antiepileptic drugs may alter plasma lipid status in epileptic patients. We conducted a study to assess the effect of phenobarbital, carbamazepine, and valproate on plasma levels of lipoprotein (a), total cholesterol, triglycerides, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, apolipoprotein A, and apolipoprotein B in 22 epileptic children. The children were separated as group 1, seven children, mean age 1.6+/-0.2 years, treated with phenobarbital, 5 mg/kg/day, twice daily; group 2, seven children, mean age 9.8+/-1.2 years, treated with carbamazepine, 20 mg/kg/day, twice daily; and group 3, eight children, mean age 6.8+/-0.6 years, treated with valproate, 20 mg/kg/day, twice daily. Plasma lipoprotein (a) and other lipid levels were studied before (pretreatment) and at 3 and 6 months of treatment. Friedman two-way analysis of variance and Wilcoxon's signed-rank test were used for statistical analysis, and the results were expressed as the mean and standard error of the mean. The mean age of children in group 1 was significantly low, compared with groups 2 and, 3 (P < .001). The mean pretreatment lipid levels between the groups were not significant. The increase in lipoprotein (a) at 3 and 6 months and high-density lipoprotein cholesterol at 6 months was statistically significant in group 1 (P < .025). We suggest a careful monitoring of plasma levels of lipoprotein (a) and other lipids in epileptic children treated with antiepileptic drugs.
Asunto(s)
Anticonvulsivantes , Carbamazepina , Epilepsia/tratamiento farmacológico , Lipoproteínas/efectos de los fármacos , Fenobarbital , Ácido Valproico , Adolescente , Análisis de Varianza , Anticonvulsivantes/sangre , Anticonvulsivantes/farmacología , Anticonvulsivantes/uso terapéutico , Carbamazepina/sangre , Carbamazepina/farmacología , Carbamazepina/uso terapéutico , Niño , Preescolar , HDL-Colesterol/sangre , HDL-Colesterol/efectos de los fármacos , Epilepsia/diagnóstico , Femenino , Humanos , Lactante , Lipoproteínas/sangre , Masculino , Fenobarbital/sangre , Fenobarbital/farmacología , Fenobarbital/uso terapéutico , Triglicéridos/sangre , Ácido Valproico/sangre , Ácido Valproico/farmacología , Ácido Valproico/uso terapéuticoRESUMEN
We describe Adie's pupil and radiologic changes related to Parry-Romberg syndrome in a child who presented with facial hemiatrophy with no neurologic deficit. We suggest that cerebral lesions in Parry-Romberg syndrome without neurologic symptoms must be carefully investigated.
Asunto(s)
Hemiatrofia Facial/diagnóstico , Pupila Tónica/diagnóstico , Encéfalo/patología , Calcinosis/diagnóstico , Calcinosis/etiología , Preescolar , Dominancia Cerebral/fisiología , Hemiatrofia Facial/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Examen Neurológico , Lóbulo Parietal/patología , Tomografía Computarizada por Rayos X , Pupila Tónica/etiologíaRESUMEN
Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an initial male karyotype with 4q+. The origin of the additional segment on 4q was unequivocally established by fluorescence in situ hybridization (FISH). Whole chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe were used. The karyotype was demonstrated to be 46,XY,der(4), t(4;15)(q35;?),inv(9)(p13q13). To the best of our knowledge the above cytogenetic abnormalities with these clinical findings have not been described previously. This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 4 , Hibridación Fluorescente in Situ , Translocación Genética , Humanos , Lactante , Cariotipificación , MasculinoRESUMEN
We report a patient with proteus syndrome who has epidermal nevus, right-sided asymmetric growth of extremities, pelvis, vertebrae and hemimegalencephaly. This patient also had enlargement of the liver which is not reported before in the proteus syndrome.
Asunto(s)
Hepatopatías/genética , Síndrome de Proteo/genética , Ventrículos Cerebrales/anomalías , Femenino , Dedos/anomalías , Humanos , Lactante , Imagen por Resonancia Magnética , Hueso Parietal/anomalías , Lóbulo Parietal/anomalíasRESUMEN
We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann et al.
Asunto(s)
Anomalías Múltiples , Enfermedades del Desarrollo Óseo , Corteza Cerebral/anomalías , Anomalías Múltiples/genética , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Deformidades Congénitas del Pie , Deformidades Congénitas de la Mano , Humanos , Recién Nacido , Pierna/anomalías , Imagen por Resonancia Magnética , Masculino , Linaje , Radiografía , SíndromeRESUMEN
This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down syndrome. Twenty children (71.4%) had congenital heart defects. Ultrasonography was performed on 29 and two of these (6.9%) had cholelithiasis. Tests for hypothyroidism in 24 children identified hypothyroidism in three (12.5%). Leukemia was diagnosed in three children (10%) (one with congenital, two acquired). One patient with congenital hypothyroidism underwent surgery on the third day of life because of annular pancreas and duodenal atresia.
Asunto(s)
Colelitiasis/etiología , Síndrome de Down/complicaciones , Cardiopatías Congénitas/etiología , Hipotiroidismo/etiología , Leucemia/etiología , Adolescente , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , TurquíaAsunto(s)
Diabetes Mellitus Tipo 1/diagnóstico por imagen , Íleon/anomalías , Atresia Intestinal/diagnóstico por imagen , Embarazo en Diabéticas/diagnóstico por imagen , Anomalías Múltiples/diagnóstico por imagen , Femenino , Humanos , Íleon/diagnóstico por imagen , Lactante , Recién Nacido , Masculino , Embarazo , Radiografía , Sacro/anomalías , Sacro/diagnóstico por imagen , SíndromeAsunto(s)
Anomalías Múltiples/genética , Contractura/genética , Huesos Faciales/anomalías , Hipospadias/genética , Micrognatismo/genética , Cráneo/anomalías , Consanguinidad , Contractura/diagnóstico , Diagnóstico Diferencial , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Humanos , Hipospadias/diagnóstico , Recién Nacido , Masculino , Micrognatismo/diagnóstico , SíndromeRESUMEN
We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.
Asunto(s)
Anemia Megaloblástica/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 21/genética , Deficiencia de Vitamina B 12/genética , Preescolar , Trastornos de los Cromosomas , Consanguinidad , Femenino , Humanos , Cariotipificación , Linaje , SíndromeRESUMEN
Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder but cholelithiasis in infancy has been described in only one report. We report two infants with Down syndrome associated with cholelithiasis. Except for polycythemia and indirect hyperbilirubinemia, no hemolytic process or biochemical abnormalities were evident in both patients. We believe that the cause of gallstones in our cases may have been polycythemia in the newborn period. To our knowledge this is only the second report of gallstones in infancy in Down syndrome.
Asunto(s)
Colelitiasis/complicaciones , Síndrome de Down/complicaciones , Humanos , Recién Nacido , Masculino , Policitemia/complicacionesRESUMEN
Six patients admitted to the Department of Pediatric Neurology at Hacettepe University Children's Hospital between 1992 and 1997 with a clinical diagnosis of Rasmussen encephalitis received surgical treatment for their intractable epilepsy. MRI, SPECT and WADA tests were performed in patients with an epileptic focus demonstrated on routine or long-term video EEG monitoring. Viral studies using the PCR methodology were performed in cases with histopathological evidence of Rasmussen encephalitis. The ages of these patients ranged between 7 and 16 years, and the mean age at onset of seizures was 7.1+/-2.2 years. In four patients seizures presented as epilepsia partialis continua and were refractory to anticonvulsive drug therapy. In three cases intravenous immunoglobulin therapy yielded temporary and partial improvement in seizure control. The mean presurgical follow-up duration was 2.04+1.74 years, and early surgical intervention for epilepsy was performed in one case. The surgical approach selected for the treatment of epilepsy was resective surgery with electrocorticography. The mean postoperative follow-up duration was 32.3+17.2 months. Seizures were fully controlled in one patient, in whom surgery was performed 3 months after the seizures first started. Early surgical intervention may provide histopathological evidence for diagnosis as well as effective seizure control.