Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a lncRNA locus on human chromosome 2 causes a severe congenital limb malformation. We identified homozygous 27-63-kilobase deletions located 300 kilobases upstream of the engrailed-1 gene (EN1) in patients with a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails (dorsal dimelia). Re-engineering of the human deletions in mice resulted in a complete loss of En1 expression in the limb and a double dorsal-limb phenotype that recapitulates the human disease phenotype. Genome-wide transcriptome analysis in the developing mouse limb revealed a four-exon-long non-coding transcript within the deleted region, which we named Maenli. Functional dissection of the Maenli locus showed that its transcriptional activity is required for limb-specific En1 activation in cis, thereby fine-tuning the gene-regulatory networks controlling dorso-ventral polarity in the developing limb bud. Its loss results in the En1-related dorsal ventral limb phenotype, a subset of the full En1-associated phenotype. Our findings demonstrate that mutations involving lncRNA loci can result in human Mendelian disease.

Middle ear barotrauma after hyperbaric oxygen therapy - the role of insuflation maneuvers.

OBJECTIVE: To analyze the association of insuflation maneuvers status before hyperbaric oxygen therapy with middle ear barotrauma. MATERIALS AND METHODS: Fouty-one patients (82 ears) admitted to the Department of Hyperbaric Medicine from May 2011 to July 2012. Assessments occurred: before and after the first session, after sessions with symptoms. During the evaluations were performed: otoscopy with Valsalva and Toynbee maneuvers, video otoscopy and specific questionnaire. Middle ear barotrauma was graduated by the modified Edmond's scale. Tubal insuflation was classified in Good, Median and Bad according to combined results of Valsalva and Toynbee maneuvers. INCLUSION CRITERIA: patients evaluated by an otolaryngologist before and after the first session, with no history of ear disease, who agreed to participate in the research (convenience sample). RESULTS: Of the 82 ears included in the study, 32 (39%) had barotrauma after the first session. The rate of middle ear barotrauma according to tubal insuflation was: 17.9% (Good insuflation) 44.4% (Median insuflation) and 55.6% (Bad insuflation) (P = 0.013). CONCLUSION: Positive Valsalva and Toynbee maneuvers before the first session, alone or associated were protective factors for middle ear barotrauma by ear after the first session.

Hirayama Disease: Case Report.

A 26-year-old previously healthy patient who, at the age of 18 years, began progressive loss of distal strength, rest tremor, and muscle atrophy in the left upper limb. Upon examination, the patient presented moderate distal atrophy, degree 4 in muscular strength, and minipolymioclonus. Electromyoneurography revealed (EMNG) chronic preganglionic bilateral involvement of bilateral C7/C8/T1, worse on the left, with signs of active C8/T1 denervation. A cervical spine magnetic resonance imaging (MRI) scan showed spondylodiscal degenerative changes with central protrusions in C4-C5, C6-C7, and right central in C5-C6, which touched the dural sac. The anteroposterior diameter of the medulla in neutral position, in the C5-C6 plane, was of 5.1 mm. There was a reduction of the spinal cord caliber to 4.0 mm after the dynamic maneuver of forced flexion of the spine, as well as signal increase in the anterior horns. The clinical findings and those of the complementary tests were compatible with Hirayama disease (HD), a rare benign motor neuron disease that affects cervical spinal segments and is most prevalent in men, with onset in the early 20s. Unilateral and slowly progressive weakness is typical, but self-limited. Sensory disturbances, and autonomic and upper motor neuron signals are rare. Management is usually conservative, with the use of a soft cervical collar. Although rare, HD should be considered in young patients with focal asymmetric atrophy in the upper limbs. The early diagnosis of HD depends on the degree of suspicion, as well as on the cooperation and communication among the various specialties involved in the investigation.

Evaluation of intravascular contrast media transit times in coronary computed tomography angiography.

Objective: To measure the transit times (TTs) of contrast agents among the injection site (antecubital vein), superior vena cava, pulmonary trunk, and ascending aorta, in coronary computed tomography angiography (CTA) examinations of outpatients with no history of cardiovascular or lung disease, thus defining reference values for those TTs. Materials and Methods: The contrast TTs from the injection site (antecubital vein) to the superior vena cava, from the superior vena cava to the pulmonary trunk, and from the pulmonary trunk to the ascending aorta were measured by monitoring contrast enhancement in real time (bolus tracking). Cardiac output was measured by the geometric method during the CTA examination and was correlated with the contrast TT. Results: Forty-three individuals were analyzed. The mean contrast TT was 13.1 s overall (from the antecubital vein to the ascending aorta), 3.0 s from the superior vena cava to the pulmonary trunk, and 7.2 s from the pulmonary trunk to the ascending aorta. There was a tendency toward a correlation between contrast TT and cardiac output (p = 0.055). Conclusion: The reference values established here for contrast TTs among the superior vena cava, pulmonary trunk, and ascending aorta will serve as a basis for clinical evaluation.

Objetivo: Mensurar os tempos de trânsito de contraste (TTCs) entre o sítio de injeção em veia antecubital e a veia cava superior, tronco arterial pulmonar e aorta ascendente em exames de tomografia computadorizada de artérias coronárias de pacientes sem história de doenças cardiovasculares ou pulmonares, definindo padrões de normalidade para esses tempos de circulação. Materiais e Métodos: Os TTCs entre o sítio de injeção e a veia cava superior, tronco arterial pulmonar e aorta ascendente foram medidos com base nas imagens de monitoração (bolus tracking). O débito cardíaco foi calculado com base nas imagens de angiotomografia computadorizada pelo método geométrico e correlacionado com os TTCs. Resultados: Foram analisados 43 pacientes. O TTC médio entre o tronco arterial pulmonar e a aorta ascendente foi de 7,2 s, entre a veia cava superior e o tronco arterial pulmonar foi de 3 s e entre a veia antecubital e a aorta ascendente foi de 13 s. Houve tendência a correlação entre o TTC e o débito cardíaco, com valor de p de 0,055. Conclusão: Os valores de normalidade do TTC entre a veia cava superior, tronco arterial pulmonar e aorta ascendente foram estabelecidos, servindo de base para avaliação clínica.

Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

OBJECTIVE: Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT). This study reports the relation of MRS findings to age, disease severity, and genotype. METHODS: Forty RTT girls (1-14 years old) and 12 age-matched control subjects were examined. Single-voxel proton MRS of left frontal white matter was performed. RESULTS: NAA/Cr ratios decreased and myoinositol/Cr ratios increased with age in RTT patients (both p < 0.03), whereas these ratios were stable in control. The mean glutamate and glutamine/Cr ratio was 36% greater in RTT patients than in control (p = 0.043). The mean NAA/Cr ratio was 12.6% lower in RTT patients with seizures compared with those without seizures (p = 0.017). NAA/Cr ratios decreased with increasing clinical severity score (p = 0.031). Compared with patients with T158X, R255X, and R294X mutations, and C-terminal deletions, patients with the R168X mutation tended to have the greatest severity score (0.01 < or = p < or = 0.11) and the lowest NAA/Cr ratio (0.029 < or = p < 0.14). INTERPRETATION: Decreasing NAA/Cr and increasing myoinositol/Cr with age are suggestive of progressive axonal damage and astrocytosis in RTT, respectively, whereas increased glutamate and glutamine/Cr ratio may be secondary to increasing glutamate/glutamine cycling at the synaptic level. The relations between NAA/Cr, presence or absence of seizures, and disease severity suggest that MRS provides a noninvasive measure of cerebral involvement in RTT.

Pregnancy-induced growth of a spinal hemangioblastoma: presumed mechanisms and their implications for therapeutic approaches.

Hemangioblastomas are benign tumors of the central nervous system (CNS) that may occur either sporadically or as part of von Hippel-Lindau (VHL) disease, in which they coexist with a series of other tumors outside the CNS. Because of their low mitosis rate, hemangioblastomas usually have slow-growing and late manifestations, but may cause sudden neurological symptoms if tumor hemorrhage occurs. Few studies have evaluated the impact of pregnancy on the evolution of hemangioblastomas. Some authors have reported tumor growth in women with VHL disease, but no such association was observed by others. The influence of pregnancy on sporadic hemangioblastomas remains largely unexplored. We report here the case of a pregnant woman whose first manifestation of sporadic spinal hemangioblastoma was life-threatening, rapidly progressive dysautonomia. In addition, we discuss the role of pregnancy in the triggering of symptoms, as well as the possibility of medically indicated delivery for the management of these tumors.

Contrast-Enhanced Mammography (CEM) for Detecting Residual Disease after Neoadjuvant Chemotherapy: A Comparison with Breast Magnetic Resonance Imaging (MRI).

OBJECTIVE: To evaluate the performance of contrast-enhanced mammography (CEM) compared to magnetic resonance imaging (MRI) for estimating residual tumor size after neoadjuvant chemotherapy (NAC) in women with newly diagnosed breast cancer. METHODS: The institutional review board approved this study. This prospective study included women with newly diagnosed breast cancer who underwent breast CEM and MRI at the end of the last cycle of NAC and before definitive surgery. Size of residual malignancy on post-NAC CEM and MRI was compared with surgical pathology. Agreements and correlations of CEM and MRI measurements with histological size were assessed. RESULTS: Thirty-three patients were included with a mean age of 45 years (range 22-76). The sensitivity, specificity, and positive and negative predictive value for detection of residual disease of CEM were 76%, 87.5%, 95%, and 86.4%, and those of MRI were 92%, 75%, 92%, and 75%. Comparing CEM to MRI, the mean difference was -0.8 cm, concordance coefficient was 0.7, and Pearson correlation was 0.7 (p = 0.0003). The concordance coefficient between measurements of each imaging modality and pathologic tumor size was 0.7 for CEM and 0.4 for MRI. Pearson correlation was 0.8 for CEM and 0.5 for MRI. Mean differences between CEM, MRI, and residual histopathological tumor size were 0.8 cm and 1.8 cm, respectively. CONCLUSIONS: CEM has good correlation and agreement with histopathology for measuring residual disease after NAC. CEM was comparable to MRI, showing high positive predictive value and specificity for detecting residual disease.

Laparoscopic treatment of anterior sacral meningocele.

BACKGROUND: Anterior sacral meningocele is a rare congenital malformation, whose open surgical treatment is well accepted. We present a laparoscopic approach as an adjunctive approach. METHODS: Five women who underwent laparoscopic transperitoneal surgery were clinically, radiologically, and surgically evaluated. RESULT: All 5 patients underwent laparoscopic transperitoneal surgery and showed satisfactory results. They had no major complications. Three patients had headaches as minor complications, but it was gone in at most 3 days. Decrease in operative time, blood loss, and length of hospitalization were the advantages of the procedure. CONCLUSIONS: The laparoscopic approach to treating anterior sacral meningocele was feasible and safe, with only minor complications.

Idiopathic inflammatory pseudotumor of the carotid sheath.

We present a biopsy proven case of 47 years-old man with a carotid pseudotumor, clinically presented as carotidynia. CT showed a mass encasing and narrowing the common carotid artery and MRI showed hypointense signal in T2 and intense enhancement after contrast media administration. The patient was suspected to have an inflammatory process and steroids were prescribed. Eight days after the steroid treatment significant radiological and clinical improvement was observed. The patient remains free of symptoms.

Hirayama Disease: Case Report / Doença de Hirayama: Relato de caso

Abstract A 26-year-old previously healthy patient who, at the age of 18 years, began progressive loss of distal strength, rest tremor, and muscle atrophy in the left upper limb. Upon examination, the patient presented moderate distal atrophy, degree 4 in muscular strength, and minipolymioclonus. Electromyoneurography revealed (EMNG) chronic preganglionic bilateral involvement of bilateral C7/C8/T1, worse on the left, with signs of active C8/T1 denervation. A cervical spine magnetic resonance imaging (MRI) scan showed spondylodiscal degenerative changes with central protrusions in C4-C5, C6-C7, and right central in C5-C6, which touched the dural sac. The anteroposterior diameter of the medulla in neutral position, in the C5-C6 plane, was of 5.1 mm. There was a reduction of the spinal cord caliber to 4.0 mm after the dynamic maneuver of forced flexion of the spine, as well as signal increase in the anterior horns. The clinical findings and those of the complementary tests were compatible with Hirayama disease (HD), a rare benign motor neuron disease that affects cervical spinal segments and is most prevalent in men, with onset in the early 20s. Unilateral and slowly progressive weakness is typical, but self-limited. Sensory disturbances, and autonomic and upper motor neuron signals are rare. Management is usually conservative, with the use of a soft cervical collar. Although rare, HD should be considered in young patients with focal asymmetric atrophy in the upper limbs. The early diagnosis of HD depends on the degree of suspicion, as well as on the cooperation and communication among the various specialties involved in the investigation.

Resumo Paciente de 26 anos, previamente hígido, que, aos 18 anos, iniciou perda progressiva de força distal, tremor de repouso, e atrofia muscular no membro superior esquerdo. Ao exame, apresentou atrofia moderada, distal, força muscular de grau 4, e minipolimioclonus. A eletroneuromiografia (ENMG) revelou comprometimento pré-ganglionar crônico de C7/C8/T1 bilateral pior à esquerda, com sinais de desnervação ativa em C8/T1. A ressonância magnética (RM) de coluna cervical mostrou alterações degenerativas espondilodiscais com protrusões centrais em C4-C5, C6-C7, e central direita em C5-C6, que tocavam o saco dural. O diâmetro anteroposterior da medula na posição neutra, no plano de C5-C6, era de 5,1 mm. Houve redução do calibre da medula para 4,0 mm após a manobra dinâmica de flexão forçada da coluna, e aumento de sinal nos cornos anteriores. Os achados clínicos e os dos exames complementares eram compatíveis com doença de Hirayama (DH), uma doença benigna rara dos neurônios motores, que afeta os segmentos espinhais cervicais e é mais prevalente em homens e de início próximo aos 20 anos. É típica a fraqueza unilateral e lentamente progressiva, porém autolimitada. Perturbações sensoriais, sinais autonômicos e do neurônio motor superior são raras. O manejo geralmente é conservador, com uso de colar cervical macio. Apesar de rara, a DH deve ser considerada em pacientes jovens que apresentam atrofias assimétricas focais de membros superiores. O diagnóstico precoce de DH depende do grau de suspeição, e da cooperação e comunicação entre as diversas especialidades envolvidas na investigação.

Accuracy of contrast-enhanced spectral mammography for estimating residual tumor size after neoadjuvant chemotherapy in patients with breast cancer: a feasibility study.

OBJECTIVE: To assess the feasibility of contrast-enhanced spectral mammography (CESM) of the breast for assessing the size of residual tumors after neoadjuvant chemotherapy (NAC). MATERIALS AND METHODS: In breast cancer patients who underwent NAC between 2011 and 2013, we evaluated residual tumor measurements obtained with CESM and full-field digital mammography (FFDM). We determined the concordance between the methods, as well as their level of agreement with the pathology. Three radiologists analyzed eight CESM and FFDM measurements separately, considering the size of the residual tumor at its largest diameter and correlating it with that determined in the pathological analysis. Interobserver agreement was also evaluated. RESULTS: The sensitivity, specificity, positive predictive value, and negative predictive value were higher for CESM than for FFDM (83.33%, 100%, 100%, and 66% vs. 50%, 50%, 50%, and 25%, respectively). The CESM measurements showed a strong, consistent correlation with the pathological findings (correlation coefficient = 0.76-0.92; intraclass correlation coefficient = 0.692-0.886). The correlation between the FFDM measurements and the pathological findings was not statistically significant, with questionable consistency (intraclass correlation coefficient = 0.488-0.598). Agreement with the pathological findings was narrower for CESM measurements than for FFDM measurements. Interobserver agreement was higher for CESM than for FFDM (0.94 vs. 0.88). CONCLUSION: CESM is a feasible means of evaluating residual tumor size after NAC, showing a good correlation and good agreement with pathological findings. For CESM measurements, the interobserver agreement was excellent.

OBJETIVO: Avaliar a viabilidade da utilização da mamografia espectral com meio de contraste (CESM) na avaliação do tumor residual em mulheres com câncer de mama submetidas a quimioterapia neoadjuvante. MATERIAIS E MÉTODOS: Foi avaliada a concordância entre a mensuração do tumor residual na CESM e na mamografia digital (FFDM) com os dados histopatológicos de mulheres submetidas a quimioterapia neoadjuvante entre 2011 e 2013. Após as exclusões, três radiologistas analisaram oito CESMs e FFDMs separadamente. A maior dimensão do tumor residual foi considerada para comparação com os resultados histopatológicos. Concordância e correlação da CESM e FFDM com resultados histopatológicos e a concordância interobservador foram avaliadas. RESULTADOS: A CESM teve sensibilidade, especificidade e valores preditivos positivos e negativos maiores que a FFDM - 83,33%, 100%, 100% e 66% versus 50%, 50%, 50% e 25%, respectivamente. A CESM teve correlação boa e consistente com os achados histopatológicos (coeficiente de correlação = 0,76-0,92; coeficiente de correlação intraclasse = 0,692-0,886). A correlação entre FFDM e os achados histopatológicos não foi estatisticamente significante, com consistência questionável (coeficiente de correlação intraclasse = 0,488-0,598). A concordância entre as dimensões do estudo histopatológico foi mais estreita com a CESM do que com a FFDM. A concordância interobservador foi maior na CESM (0,94) do que na FFDM (0,88). CONCLUSÃO: A CESM é viável e pode ser utilizada para avaliação de tumor residual após quimioterapia neoadjuvante. A CESM tem boa correlação e concordância com o estudo histopatológico e excelente concordância interobservador.

Avaliação de diferentes tempos de trânsito do meio de contraste intravascular em exames de tomografia computadorizada coronariana / Evaluation of intravascular contrast media transit times in coronary computed tomography angiography

Resumo Objetivo: Mensurar os tempos de trânsito de contraste (TTCs) entre o sítio de injeção em veia antecubital e a veia cava superior, tronco arterial pulmonar e aorta ascendente em exames de tomografia computadorizada de artérias coronárias de pacientes sem história de doenças cardiovasculares ou pulmonares, definindo padrões de normalidade para esses tempos de circulação. Materiais e Métodos: Os TTCs entre o sítio de injeção e a veia cava superior, tronco arterial pulmonar e aorta ascendente foram medidos com base nas imagens de monitoração (bolus tracking). O débito cardíaco foi calculado com base nas imagens de angiotomografia computadorizada pelo método geométrico e correlacionado com os TTCs. Resultados: Foram analisados 43 pacientes. O TTC médio entre o tronco arterial pulmonar e a aorta ascendente foi de 7,2 s, entre a veia cava superior e o tronco arterial pulmonar foi de 3 s e entre a veia antecubital e a aorta ascendente foi de 13 s. Houve tendência a correlação entre o TTC e o débito cardíaco, com valor de p de 0,055. Conclusão: Os valores de normalidade do TTC entre a veia cava superior, tronco arterial pulmonar e aorta ascendente foram estabelecidos, servindo de base para avaliação clínica.

Abstract Objective: To measure the transit times (TTs) of contrast agents among the injection site (antecubital vein), superior vena cava, pulmonary trunk, and ascending aorta, in coronary computed tomography angiography (CTA) examinations of outpatients with no history of cardiovascular or lung disease, thus defining reference values for those TTs. Materials and Methods: The contrast TTs from the injection site (antecubital vein) to the superior vena cava, from the superior vena cava to the pulmonary trunk, and from the pulmonary trunk to the ascending aorta were measured by monitoring contrast enhancement in real time (bolus tracking). Cardiac output was measured by the geometric method during the CTA examination and was correlated with the contrast TT. Results: Forty-three individuals were analyzed. The mean contrast TT was 13.1 s overall (from the antecubital vein to the ascending aorta), 3.0 s from the superior vena cava to the pulmonary trunk, and 7.2 s from the pulmonary trunk to the ascending aorta. There was a tendency toward a correlation between contrast TT and cardiac output (p = 0.055). Conclusion: The reference values established here for contrast TTs among the superior vena cava, pulmonary trunk, and ascending aorta will serve as a basis for clinical evaluation.

Correlation of clinical findings and brain volume data in multiple sclerosis.

Brain volume measurements are becoming an important tool for assessing success in controlling multiple sclerosis (MS) activity. MSmetrix (icometrix) is an easy-to-use platform, specific for MS magnetic resonance imaging (MRI) of the brain. It provides data on total brain volume, grey matter volume and lesion load volume. The objective of the present study was to assess whether disability and the number of relapses during the previous year correlated with brain volume measurements from MSmetrix. Data on 185 icometrix reports from patients with MS were used to evaluate the potential correlation between brain volume measurements and clinical parameters. There was a significant correlation between higher disability and decreased brain volume (total and grey matter). Increased lesion load in the brain and higher number of relapses in the previous year were also independently correlated with decreased brain tissue volume and with increased disability. This is the first study with real-world data to show that icometrix is a relevant tool for the study of brain volume loss in MS.

[Ultrasonic findings of intracranial hemorrhage in preterm neonates]. / Achados ultra-sonográficos da hemorragia intracraniana em recém-nascidos prematuros.

Intracranial hemorrhage ICH is one of the most common neurological events in pre-term newborn ICH is associated with low birth weight (< 1500 g) and gestational age (GA) at delivery (< 32 weeks). The most common site affected is the germinal matrix. Papile et al. classifies it at four grades. We analyzed, prospectively, 50 newborns (27 boys) with ultrasound diagnostic of ICH; all of them were pre-term (GA < 37 weeks). They were classified according to sex, gestational age, birth weight and degree of ICH. The children were divided into two groups: A--GA < or = 33 weeks and B--34-37 weeks. In group A there were 34 children (25 boys) with mean GA of 31 weeks and birth weights average of 1308 g. In group B there were 16 children (2 boys), mean GA 34 weeks and birth weight average of 1951 g. The grades of ICH were: Group A--I-14, II-14, III-4 and IV-2; Group B--I-12, II-3 and III-1. The complications were more common in group A with 12 than group B with 4 children. The lesions happen in greatest number and most severity in children with low birth weight and younger (low gestational age). Ultrasound has shown to be effective for diagnostic and follow up of those children.

[Ophthalmoplegic migraine: MRI findings. Case report]. / Enxaqueca oftalmoplégica: achados à ressonância magnética. Relato de caso.

Ophthalmoplegic migraine is a rare syndrome in which headache is associated with ophthalmoplegia and third, fourth or sixth cranial nerves palsy. It occurs most frequently in childhood and teenagers. At magnetic resonance imaging (MRI) with gadolinium (GD-DTPA) it may be observed a transitory enhancement of the affected nerve. We present the case of a male teenager, 16 years old, with typical medical history and enhanced signal at left oculomotor nerve in cisternal portion at MRI weighted in T1 with GD-DTPA. On the control exam, eighteen months later, there was no remarkable lesion. The enhancement of oculomotor nerve at MRI is always pathological and among the differential diagnosis we must include: neoplasia (lymphoma and leukemia), infections (AIDS, syphilis), inflammatory process (sarcoidose and Tolosa-Hunt syndrome) and vascular (posterior communicating artery aneurysm).

An 81-year-old male with iliopsoas abscess by Streptococcus sanguis.

Iliopsoas muscle abscess is an uncommon condition, which has been growing in incidence. We describe a primary iliopsoas abscess by Streptococcus sanguis affecting an 81-year-old man cured by antibiotic therapy and aspiration procedure. The objective is to enhance the suspicion index about the iliopsoas abscess that may be mistaken for other causes of acute abdomen. The important diagnostic role of abdominal imaging studies is also emphasised.

Heidenhain variant of Creutzfeldt-Jakob disease in Brazil: a case report / Variante Heidenhain da Doença de Creutzfeldt-Jakob no Brasil: um relato de caso

Creutzfeldt-Jakob disease (CJD) is a rare spongiform encephalopathy characterized by a rapid neurodegenerative progress, caused by a misfolded variant of the cellular prion protein (PrP) known as PrPSc. The clinical presentation of sCJD includes a wide range of neurological signs of cortical, subcortical, or cerebellar origin, either isolated or in various combinations. Due to this protean clinical presentation form, sCJD must be distinguished from other dementias. In this case report, we discuss the Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), a rare variant characterized by early visual symptoms and typical findings in imaging scans. Our patient presented rapidly progressive dementia and a history of visual hallucinations. As for other prion diseases, only symptomatic treatment is available for HvCJD. Thirty years of clinical investigation of patients with prion disease have resulted in little progress in either defining or evaluating potential treatments.

A doença de Creutzfeldt-Jakob (DCJ) é uma encefalopatia rara caracterizada por rápida progressão neurodegenerativa, causada pelo enovelamento incorreto da proteína priônica celular (PrP), conhecido como PrPSc. O quadro clínico da DCJ esporádica inclui um amplo espectro de sinais neurológicos de origens cortical, subcortical ou cerebelar, seja de forma isolada, seja combinada. Por causa da sua apresentação clínica variável, a DCJ esporádica deve ser distinguida de outras demências. Neste relato de caso, discutimos a variante Heidenhain da DCJ (vHDCJ), uma variante rara caracterizada por sintomas visuais precoces e características específicas no exame de imagem. Nossa paciente apresentou demência rapidamente progressiva e histórico de alucinações visuais. Assim como para as demais doenças priônicas, apenas o tratamento sintomático está disponível para a vHDCJ. Trinta anos de investigação clínica de pacientes com doença priônica têm resultado em pouco progresso, seja definindo os potenciais tratamentos, seja avaliando-os.

[Anterior instrumentation of spine in tuberculous spondylitis: Pott's disease: case report]. / Instrumentação anterior da coluna em espondilite tuberculosa: Mal de Pott: Relato de caso.

We report a case of a surgical treatment with anterior instrumentation in tuberculous spondylitis (Pott's disease), in a 71 years old woman, that was in treatment for pulmonary tuberculosis, with lumbar pain, progressive disability to walk, kyphotic deformity and vesical dysfunction. Magnetic resonance image presents a lesion in the bodies of T12 and L1, with paravertebral abscess. The patient was treated surgically by transthoracic-abdominal approach. The vertebral bodies were cut off and the spine were instrumented anteriorly with a mesh cage and a Z plate. This procedure permits a good arthrodesis and a immediately stabilization of the spine, without any complication of the infection. The patient was seen a year after the surgery and is free of infection, without motor deficit, pain or reminiscent kyphosis.

[Hallervorden Spatz syndrome: magnetic resonance findings. Case report]. / Síndrome de Hallervorden Spatz: achados na resonância magnética. Relato de caso.

Hallervorden-Spatz syndrome is a neurodegenerative disease, autosomic recessive with two clinical features: early and late onset. Psychiatric, pyramidal and extrapyramidal signs are present in the late subtype. We report the case of a 41-old woman with extrapyramidal signs. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. This is due to a gliosis (increased signal) and accumulation of surrounding iron (decreased signal intensity) in long TR sequences. There is a strong relationship between MRI findings and the gene mutation responsable for this disease. It makes the MRI sensible for diagnosing this syndrome.