RESUMO
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; MIM 300290) is a multisystem disorder with a broad phenotype, which, if unrecognized, may result in major and possibly life-threatening complications. Initial clinical features overlap with those of Russell-Silver syndrome (RSS) and isolated growth hormone (GH) deficiency, conditions from which it must be distinguished. We report an Australian male with adrenal hypoplasia congenita (AHC) in association with IMAGe syndrome. The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal abnormalities. Signs of adrenal insufficiency occurred at aged 4.6 years. Our patient differs from those previously described by the late onset of adrenal insufficiency and the presence of GH deficiency. IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities.
Assuntos
Insuficiência Adrenal/congênito , Insuficiência Adrenal/genética , Doenças do Desenvolvimento Ósseo/genética , Retardo do Crescimento Fetal/genética , Pênis/anormalidades , Pré-Escolar , Criptorquidismo/genética , Orelha Externa/anormalidades , Hormônio do Crescimento/deficiência , Humanos , Masculino , Micrognatismo/genética , SíndromeRESUMO
This is a retrospective study of 21 surgically treated patients with temporal lobe tumors and epilepsy. Evaluation included clinical data, EEG findings, structural scans, pathological diagnosis and post-surgical follow-up. There were 9 cases of ganglioglioma, 5 pilocytic astrocytoma, 3 ganglioneuroma, 2 dysembryoplastic neuroepithelial tumor, 1 pleomorphic xantoastrocytoma, and 1 meningioangiomatosis. Mean follow-up time was 22 months and outcome was evaluated according to Engel's classification; 76.2% were classified in class I and 23.8% in II and III. All patients classes II and III had been submitted to mesial and neocortical resections. There were no differences related to clinical characteristics, pathological diagnosis or duration of follow-up in patients seizure-free or not. All patients had abnormal MRI and ten of these had normal CT; the MRI characteristics were compared to pathological diagnosis and specific histological characteristics of the tumors were not discernible by MRI. We concluded that MRI was essential for the diagnosis and precise location of TL tumors. Ganglioglioma was the most frequent tumor and lesionectomy associated to mesial resection doesn't guarantee a better prognosis.
Assuntos
Neoplasias Encefálicas/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Lobo Temporal/cirurgia , Adolescente , Adulto , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Criança , Pré-Escolar , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/etiologia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
Assuntos
Catarata/diagnóstico , Deficiência Intelectual/diagnóstico , Laminina/metabolismo , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico , Adolescente , Biópsia , Criança , Deficiências do Desenvolvimento/diagnóstico , Distrofina/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/metabolismo , Distrofias Musculares/patologia , Sarcolema/metabolismoRESUMO
The analysis of the temporal lobe seizures through video-EEG systems shows that they often consist of a sequence of clinical and EEG features which may suggest the localization and the lateralization of the epileptogenic lobe. We analyzed clinical and EEG features of 50 temporal lobe seizures which were separated in group 1 with 25 patients (related to mesial temporal sclerosis) and group 2 with 25 patients (other neocortical temporal lesions). Among the auras, the epigastric type was the most frequent and predominated in group 1. There were differences between the two groups, considering dystonic and tonic posturing and versive head and eye movements. Dystonic posturing was always contralateral to the ictal onset and was considered the most useful lateralizing clinical feature. Ictal speech, spitting and blinking automatisms, prolonged disorientation for place and a greatest percentage of postictal language preservation occurred in right temporal seizures. Postictal aphasia and global disorientation predominated in left temporal seizures. EEG was important for lateralizing the epileptogenic lobe, specially considering rhythmic ictal activity and postictal findings.
Assuntos
Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico , Lateralidade Funcional/fisiologia , Distonia/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/fisiopatologia , Lobo Temporal/fisiopatologiaRESUMO
Fifty children, 24 female and 26 male, with ages varying from 6 to 72 months (mean = 23.7 m.) that experienced at least one febrile seizure (FS) entered a prospective study of intermittent therapy with clobazam. Cases with severe neurological abnormalities, progressive neurological disease, afebrile seizures, symptomatic seizures of other nature, or seizures during a central nervous system infection were excluded. Seizures were of the simple type in 25 patients, complex in 20 and unclassified in 5. The mean follow-up period was 7.9 months (range = 1 to 23 m.), and the age at the first seizure varied from 5 to 42 months (mean = 16.8 m.). Clobazam was administered orally during the febrile episode according to the child's weight: up to 5 kg, 5 mg/day; from 5 to 10 kg, 10 mg/day; from 11 to 15 kg, 15 mg/day, and over 15 kg, 20 mg/day. There were 219 febrile episodes, with temperature above 37.8 degrees C, in 40 children during the study period. Twelve children never received clobazam and 28 received the drug at least once. Drug efficacy was measured by comparing FS recurrence in the febrile episodes that were treated with clobazam with those in which only antipyretic measures were taken. Ten children (20%) experienced a FS during the study period. Of the 171 febrile episodes treated with clobazam there were only 3 recurrences (1.7%), while of the 48 episodes treated only with antipyretic measures there were 11 recurrences (22.9%), a difference highly significant (p < 0.0001). Adverse effects occurred in 10/28 patients (35.7%), consisting mainly in vomiting, somnolence and hyperactivity. Only one patient had recurrent vomiting which lead to drug interruption. These effects did not necessarily occurred in every instance the drug was administered, being present in one febrile episode and not in the others. We conclude that clonazepam is safe and efficacious in preventing FS recurrence. It may be an alternative to diazepam in the intermittent treatment of FS recurrence.