RESUMO
Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity. Eight patients presented prenatally with short femora, whereas later in childhood their short-spine phenotype emerged. We observed the same pattern of changing skeletal proportion in other patients. The radiological findings included platyspondyly, irregular end plates of the elongated vertebral bodies, narrow disc spaces and short over-faced pedicles. In the limbs, there was mild shortening of femoral necks and tibiae in some patients, whereas others had minor epiphyseal or metaphyseal changes. In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients. Bi-parental inheritance was established where possible. Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across continents and may be under-recognized in infancy. This condition should be considered in the differential diagnosis of short femora presenting in the second trimester.
Assuntos
Nanismo/genética , Complexos Multienzimáticos/genética , Anormalidades Musculoesqueléticas/genética , Osteocondrodisplasias/genética , Sulfato Adenililtransferase/genética , Adolescente , Adulto , Criança , Pré-Escolar , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Feminino , Genes Recessivos/genética , Predisposição Genética para Doença , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/fisiopatologia , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Linhagem , Radiografia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Sequenciamento do Exoma , Adulto JovemRESUMO
BACKGROUND: The main complications after endovascular therapy of intracranial aneurysms are aneurysm rupture and thromboembolic events. Yet, the widespread use of magnetic resonance imaging (MRI) in follow-up of these patients also demonstrates other, rarely known complications such as aseptic meningitis and foreign body reaction. CASE PRESENTATION: A small aneurysm in the right posterior communicating artery was treated with endovascular therapy in a 65 year old woman. Two weeks after successful interventional treatment, the patient developed a headache. On MRI performed five months after intervention, vasogenic edema was seen in the vascular territory of the right internal carotid artery. The edema and the symptoms diminished without specific treatment within a year. INTERPRETATION: The clinical and radiological presentation of this case are suggestive of a foreign body reaction, a treatable condition that radiologists and clinicians should be aware of.
RESUMO
INTRODUCTION: Our purpose was to evaluate the safety and efficacy of endovascular treatment (EVT) of stroke caused by large vessel occlusions (LVO) performed by general interventional radiologists in cooperation with stroke neurologists and neuroradiologists at a center with a limited annual number of procedures. We aimed to compare our results with those previously reported from larger stroke centers. PATIENTS AND METHODS: A total of 108 patients with acute stroke due to LVO treated with EVT were included. Outcome was measured using the modified Rankin scale (mRS) at 90 days. Efficacy was classified according to the modified thrombolysis in cerebral infarction (mTICI) scoring system. Safety was evaluated according to the incidence of procedural complications and symptomatic intracranial hemorrhage (sICH). RESULTS: Mean age of the patients was 67.5 years. The median National Institutes of Health Stroke Scale (NIHSS) on hospital admission was 17. Successful revascularization was achieved in 76%. 39.4% experienced a good clinical outcome (mRS<3). Intraprocedural complications were seen in 7.4%. 7.4% suffered a sICH. 21.3% died within 3 months after EVT. DISCUSSION: The use of general interventional radiologists in EVT of LVO may be a possible approach for improving EVT coverage where availability of specialized neurointerventionalists is challenging. EVT for LVO stroke performed by general interventional radiologists in close cooperation with diagnostic neuroradiologists and stroke neurologists can be safe and efficacious despite the low number of annual procedures.
