A doença de Kennedy (DK) é forma rara de doença do neurônio motor caracterizada por mutação na região codificadora do gene do receptor androgênico localizado no braço longo do cromossoma X (Xq 11-12). Há expansão das sequências de trinucleotídeos CAG que nos pacientes deve atingir número maior do que 347 repetições de pares de bases. Apresentamos quatro gerações de uma família com dez indivíduos acometidos. Avaliamos três pacientes do sexo masculino com idade variando entre 50 e 60 anos que desenvolveram sintomatologia por volta de 30 anos de idade caracterizada por fraqueza muscular progressiva associada a disfagia e disartria. O exame demonstrou ginecomastia, atrofia testicular, amiotrofia, fasciculações, paresia, abolição de reflexos e tremor postural. A análise do DNA pela técnica do PCR demonstrou número de repetições CAG aumentado no locus Xq 11-12 nos três pacientes e em uma mulher assintomática da família. Demonstramos a primeira família brasileira com diagnóstico de DK através de genética molecular. A DK deve fazer parte do diagnóstico diferencial das doenças do neurônio motor e a identificação destes pacientes é importante para o prognóstico e para o aconselhamento genético.

Purpose Cerebral venous sinus thrombosis (CVST) is an unusual and potentially life-threatening condition with variable and nonspecific clinical symptoms and high morbimortality rates. Standard therapy consists of systemic anticoagulation; although there is no clear evidence about the best choice for treatment, intravenous heparin is used as the first-line treatment modality. Intravenous sinus thrombolysis can be an effective and relatively safe treatment for acutely deteriorating patients who have not responded to conventional therapy. This case report presents the possibility of endovascular treatment in multiple steps with mechanical thrombolysis with balloon, local pharmacological thrombolysis and stenting, in a patient with a severe form of CVST. Case summary A 67-year-old woman presented severe headache, agitation and confusion with diagnosis of venous sinus dural thrombosis in both lateral sinus and torcula. After 24 h there was neurological worsening evolving with seizures and numbness even after starting heparin, without sinus recanalization; CT scan showed left temporal intracerebral hemorrhage. We decided to take an endovascular approach in multiple steps. The first step was mechanical static thrombolysis with balloon; the second step was dynamic mechanical thrombolysis with a balloon partially deflated and “pulled”; the third step was local thrombolysis with Actilyse™; finally, the fourth step was angioplasty and reconstruction of the sinuses using multiple carotid stents and complete angiographic recanalization of both sinuses and torcula. After 24 h of endovascular treatment there was full clinical recovery and no tomographic complications. Conclusion This result shows that mechanical clot disruption, intrasinus thrombolysis and reconstruction of wall sinuses with stenting can be an endovascular option in the severe form of CVST with intracerebral hemorrhage and rapid worsening of neurological symptoms. Although this type of treatment can re-channel the occluded sinuses, further comparative and randomized studies are needed to clarify its efficacy versus other therapeutic modalities.

The endovascular treatment of spontaneous dural cavernous sinus fistula (DAVF) can be accomplished by arterial approach, just with symptoms relief, or by numerous venous approaches through the inferior petrosal sinus, ophthalmic vein, anterior or posterior intercavernous sinus and facial vein. Our case suggests the approach to the cavernous sinus via the foramen ovale and emissary veins puncture as an alternative when there is no possibility of venous approach conventionally described. A 76-year-old woman presented with right conjunctival hyperemia, exophthalmos, intraocular pressure increasing and visual deficits in a period of six months. Angiographic diagnosis of spontaneous DAVF isolated from the cavernous sinus, Barrow Type C, with exclusive venous drainage through the superior ophthalmic vein. Endovascular treatment was performed under general anesthesia. Attempts to approach the cavernous sinus through the inferior petrosal sinus ipsilateral and contralateral intercavernous, facial vein and pterygoid plexus, as well as by dissection and direct puncture of the superior ophthalmic vein were not possible. An approach to the cavernous sinus was performed by puncturing the foramen ovale, catheterization of the emissary vein of the foramen ovale with occlusion of the fistula with microcoils. There was a symptomatic regression with gradual normalization of intraocular pressure, exophthalmos and conjunctival hyperemia in three months. The approach to the cavernous sinus through the foramen ovale and catheterization of the emissary cranial skull base vein is an exception and should be considered in cases of spontaneous and isolated DAVF not accessible by a conventional approach.

Intracranial circumferential fusiform aneurysms of the posterior circulation involving arterial branches or perforating vessels are difficult to treat. This article shows an endovascular reconstruction technique not yet described, using a telescoping self-expandable stent (LEO+) and flow-diverter device (SILK) at different surgical times. Two patients with circumferential fusiform aneurysm, one being an aneurysm of the segments P2 and P3 of the posterior cerebral artery, diagnosed after a headache, and the other a partially thrombosed aneurysm of the lower basilar artery, diagnosed following ischemia of the brain stem. Endovascular treatment was performed by means of a vascular reconstruction technique that used at different surgical times: overlapping; a telescoped self-expandable stent, LEO+; and a flow-diverter device, SILK. Angiographic control was carried out at 6 and 12 months, to evaluate arterial patency, flow maintenance in the arterial branches and perforating vessels, and thrombosis of the aneurysm. The combined use at different surgical times of the self-expandable stent and flow-diverter device was technically successful in both patients. There were no complications during the procedure, nor in the long-term follow-up with full arterial vascular reconstruction, maintenance of cerebral perfusion and complete aneurysm occlusion at the 6- and 12-month angiographic follow-up. There was no aneurysm recanalization nor intra-stent stenosis. Circumferential fusiform aneurysm of the posterior circulation involving arterial branches or perforating vessels to the brain stem may be treated with this arterial reconstruction technique at different surgical times, using the self-expandable stent called LEO+ and the flow-diverter device SILK, minimizing the risk of complications and failure of the endovascular technique, with the potential for arterial reconstruction with thrombosis of the aneurysmatic sac, as well as flow maintenance in the eloquent arteries, in this type of cerebral aneurysm.

The patient was a 19-year-old woman with chronic headache, hand tremor, and school difficulties. The examination revealed large subcutaneous nodules, epidermal nevus, gigantism of the feet, hypertrophy of the hemibody, and mild postural hand tremor. The magnetic resonance imaging (MRI) showed distortion in the morphology of cerebellar folia, increased size of the cerebellum, and foci hypersignal on T2 (Figure). Based on diagnostic criteria published, this person has Proteus syndrome 1 . Proteus syndrome is characterized by exaggerated and asymmetric growth of tissues, and etiology remains not understood, which is probably related to genetic mosaicism. The neurological manifestations include cortical dysplasia, mental retardation, epilepsy, brain tumors, and malformations in the posterior fossa [2][3][4] .