RESUMO
Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears to be an additional lethal case. This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus contractures of the hands and feet, small palpebral fissures, hypertelorism, a small penis, cryptorchidism, camptodactyly and a sandal gap deformity. These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and facial dysmorphism, which we propose to call the Winter-Tsukahara syndrome.
Assuntos
Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Contratura/congênito , Face/anormalidades , Articulações/anormalidades , Adulto , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Tomografia Computadorizada por Raios XRESUMO
The association of optic glioma with von Recklinghausen neurofibromatosis (NF) is well established. However, the incidence of these tumors in a large population of NF patients, prospectively evaluated with modern radiologic techniques, has not been established. We investigated the ophthalmic and intracranial features of NF in 217 patients aged 4 weeks to 69 years, in whom the diagnosis was based on stringent criteria. Tumors at various locations along the anterior visual pathway occurred in 15% of patients and were occasionally bilateral. The mean age of patients with chiasmal tumors was approximately 15 years less than patients with tumors of the optic nerve only. Two-thirds (67%) of all tumors were neither suspected historically nor detected by ophthalmologic examination. Neither the ophthalmoscopic absence of optic atrophy nor the normal results of roentgenograms of the optic foramina were reliable predictors of tumors detected by CT scan. The presence of optic glioma is not correlated to other ocular, skeletal, neurologic, or anamnestic risk factors.
Assuntos
Neoplasias dos Nervos Cranianos/etiologia , Glioma/etiologia , Neurofibromatose 1/complicações , Doenças do Nervo Óptico/etiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Neoplasias Oculares/genética , Feminino , Glioma/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/genética , Quiasma Óptico , Estudos Prospectivos , Vias VisuaisRESUMO
A female term infant was born with multiple bony and facial abnormalities involving the mandible, palate, tongue, nasopharynx, vertebrae, ribs and brain. Death occurred at 1 week and a rare combination of forebrain anomalies, were found in a big head, with complete agenesis of the corpus callosum with duplication of the infundibulum, pituitary, anterior third ventricle and aqueduct. The CAT scan was diagnostic of agenesis of corpus callosum. Incomplete twinning or incompetent neural induction with genetic and epigenetic factors have been suggested as possible mechanisms responsible for this rare malformation.
Assuntos
Anormalidades Múltiplas/patologia , Encéfalo/anormalidades , Face/anormalidades , Hidrocefalia/patologia , Hipófise/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Autopsia , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Crânio/anormalidades , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
The nature of acetabular deficiency in both congenital and paralytic hip instability was investigated by computed tomography (CT). Sixty-six hips in 35 children with paralytic or congenital hip instability underwent transpelvic CT. Two angles were defined: angle 1 is a function of anterior and angle 2 a function of posterior coverage. The sum of the two angles represented acetabular depth. Results showed anterior deficiency in cerebral palsy and congenital hip instability. An absolute acetabular deficiency as opposed to a torsional disorder was present.
Assuntos
Acetábulo/diagnóstico por imagem , Paralisia Cerebral/complicações , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação do Quadril/diagnóstico por imagem , Espinha Bífida Oculta/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Tomografia Computadorizada por Raios XRESUMO
A 26 year old woman presented with a subacute onset of headache, hypertension, and neurologic impairment. Angiography revealed severe extracranial carotid and vertebral artery disease. Long segmental stenoses, lumen irregularities, and aneurysmal dilatations were noted. She improved with medical management and was followed for one year. Because recurrent neurologic symptoms developed, angiography was repeated and disclosed normal vasculature. "Spontaneous dissections" with recovery are the most probable explanation for this phenomenon.
Assuntos
Doenças das Artérias Carótidas/diagnóstico por imagem , Insuficiência Vertebrobasilar/diagnóstico por imagem , Adulto , Arterite/diagnóstico , Doenças das Artérias Carótidas/complicações , Constrição Patológica/diagnóstico , Diagnóstico Diferencial , Feminino , Displasia Fibromuscular/diagnóstico , Seguimentos , Humanos , Radiografia , Insuficiência Vertebrobasilar/complicaçõesRESUMO
A case of spindle coma following head injury is reported in which a primary hemorrhagic rostral midbrain lesion was demonstrated by computerized tomography.
Assuntos
Coma/fisiopatologia , Eletroencefalografia/métodos , Mesencéfalo/lesões , Adolescente , Edema Encefálico/fisiopatologia , Lesões Encefálicas/fisiopatologia , Córtex Cerebral/fisiopatologia , Hemorragia Cerebral/fisiopatologia , Potenciais Evocados , Humanos , Masculino , Tomografia Computadorizada por Raios XRESUMO
Small stainless steel coils have been developed for transcatheter vascular occlusion procedures. The coils can be passed through a 5-French polyethylene catheter, extending the clinical applications of coil occlusion procedures for small and/or tortuous vessels. Two cases describing the use of these coils are reported.
Assuntos
Cateterismo , Embolização Terapêutica/instrumentação , Aço Inoxidável , Adulto , Fístula Arteriovenosa/terapia , Criança , Embolização Terapêutica/métodos , Feminino , Humanos , Masculino , Artéria Renal , Veias Renais , Neoplasias da Coluna Vertebral/irrigação sanguínea , Neoplasias da Coluna Vertebral/terapiaAssuntos
Pediatria , Tomografia Computadorizada por Raios X , Encéfalo/diagnóstico por imagem , Abscesso Encefálico/diagnóstico por imagem , Encefalopatias/líquido cefalorraquidiano , Encefalopatias/diagnóstico por imagem , Neoplasias Encefálicas/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Criança , Meios de Contraste , Olho/diagnóstico por imagem , Hematoma/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Lactente , Recém-Nascido , Masculino , Órbita/diagnóstico por imagem , Doses de Radiação , Intensificação de Imagem Radiográfica , Radiografia Abdominal , Radiografia Torácica , Coluna Vertebral/diagnóstico por imagem , Supuração/diagnóstico por imagemRESUMO
Intrarenal arteriovenous fistulas are either congenital (cirsoid), acquired or idiopathic. Transcatheter occlusion of these fistulas was accomplished using the Gianturco stainless steel coil. The anatomical configuration of the feeding and draining vessels dictated the technical approach. There was considerable conservation of renal tissue as the result of this non-surgical therapeutic alternative.