RESUMO
We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.
Assuntos
Bandeamento Cromossômico , Inversão Cromossômica/genética , Duplicação Gênica , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Recém-Nascido , Cariotipagem , Gravidez , Adulto JovemRESUMO
We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79 percent). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25 percent (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6 percent), which declined to 11 of 31 (35.5 percent) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/patologia , Lobo Temporal/patologia , Atrofia , Eletroencefalografia/métodos , Imageamento por Ressonância Magnética , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento , Gravação em VídeoRESUMO
We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79%). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25% (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6%), which declined to 11 of 31 (35.5%) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes.
Assuntos
Epilepsia do Lobo Temporal/patologia , Hipocampo/patologia , Lobo Temporal/patologia , Atrofia , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento , Gravação em VídeoRESUMO
The objective of this study was to analyze some clinical and epidemiologic aspects, as well as the follow up of 180 patients with Bell's palsy. In the study population there was a predominance of female (66.7%). Two peaks of incidence in the age distribution were identified: third-fourth and sixth decades of life. In the group of 180 patients there were 198 events of facial paralysis, 17 recurrences and in one patient the paralysis was bilateral at the onset. In 15 patients (8.3%) there were recurrences of the facial paralysis, in 12 cases (70.6%) the recurrences were ipsilateral. The left side of the face was involved in 55.6% of the cases. In eight patients the paralysis occurred during pregnancy (n=5) or puerperium (n=3). As associated conditions we found: arterial hypertension (11.7%), diabetes mellitus (11.1%), pregnancy or puerperium (4.4%; 6.7% in the women), and neurocysticercosis (1.1%). In 72.8% of the cases no association with such conditions was found. In 22.8% of the patients some kind of sequelae were identified: hemifacial spasm (12.8%), partial recovery of the motor deficit (10.6%), syndrome of the crocodile tears (3.3%), sincinetic contraction (2.8%), and the Marcus Gunn inverse phenomenon (1.1%). In conclusion, this study shows that the idiopathic facial paralysis may lead to important sequelae in more than 20% of the patients.
Assuntos
Paralisia de Bell/complicações , Adolescente , Adulto , Distribuição por Idade , Idoso , Paralisia de Bell/epidemiologia , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Período Pós-Parto , Gravidez , Complicações na Gravidez , Recidiva , Distribuição por SexoRESUMO
The etiological causes of the epileptic seizures presenting by 249 patients were studied, in a neurological clinic in Recife City, Brazil. The cause of the seizure was not identified in 43.0% of the patients. As suspected causal factors we found: ischemic cerebrovascular disease (ICVD, 17.3%), cysticercosis (8.8%), head trauma (HT, 6.8%), brain tumors (6.8%), hemorrhagic cerebrovascular disease (HCVD, 4.8%), vascular malformation (3.6%), other causes (8. 4%). In the patients with age less than 15-year-old, the most frequent cause was cysticercosis (10.3%), following vascular malformation (5.1%), and ICVD (5.1%). In the group between 15 and 45 years of age the major cause of seizure was cysticercosis (11.6%), following HT (10.7%), ICVD (4.5%), and brain tumors (3.6%). On the other hand, in the patients with more than 45-year-old the main cause was ICVD (36.7%), following brain tumors (12.3%), HCVD (11.2%), and cysticercosis (5.1%). Im conclusion, cerebrovascular disease was the most prevalent cause of epileptic seizures, considering all groups of patients. Although, cysticercosis was main cause found in the patients with less than 45 years of age.