Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance

Resumen: Las miopatías secundarias a mutaciones en el colágeno VI (M-COLVI) son las más frecuentes en el hemisferio norte, afectando población adulta y pediátrica. No existen datos de su prevalencia en Latinoamérica. Se caracterizan por presentar una gran variabilidad clínica, desde fenotipos severos, como la distrofia muscular congénita de Ullrich (DMCU), a intermedios y leves como la Miopatía de Bethlem (MB). Su inicio también es variable y se extiende desde el período de recién nacido hasta la vida adulta. Dada la presencia de hiperlaxitud articular, el diagnóstico diferencial se debe realizar con diversas enfermedades del tejido conectivo. El algoritmo diagnóstico clásico en muchos pacientes ha sido insuficiente para orientar el estudio genético de forma adecuada, y a partir de esto la resonancia magnética muscular ha emergido como una herramienta de gran utilidad para una mejor aproxima ción diagnóstica de ésta y otras patologías musculares. Esta revisión tiene como objetivo examinar las formas de presentación, características clínicas, estudio diagnóstico específico, diagnóstico dife rencial y manejo de una de las patologías musculares herediatarias más frecuentes, con énfasis en el aporte de la resonancia magnética muscular.

Abstract: Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Extratemporal abnormalities in phosphorus magnetic resonance spectroscopy of patients with mesial temporal sclerosis / Anormalidades extratemporais na espectroscopia de fósforo por ressonância magnética em pacientes com esclerose mesial temporal

ABSTRACT Objective We evaluated extratemporal metabolic changes with phosphorus magnetic resonance spectroscopy (31P-MRS) in patients with unilateral mesial temporal sclerosis (MTS). Method 31P-MRS of 33 patients with unilateral MTS was compared with 31 controls. The voxels were selected in the anterior, posterior insula-basal ganglia (AIBG, PIBG) and frontal lobes (FL). Relative values of phosphodiesters- PDE, phosphomonoesters-PME, inorganic phosphate - Pi, phosphocreatine- PCr, total adenosine triphosphate [ATPt = γ- + a- + b-ATP] and the ratios PCr/ATPt, PCr/γ-ATP, PCr/Pi and PME/PDE were obtained. Results We found energetic abnormalities in the MTS patients compared to the controls with Pi reduction bilaterally in the AIBG and ipsilaterally in the PIBG and the contralateral FL; there was also decreased PCr/γ-ATP in the ipsilateral AIBG and PIBG. Increased ATPT in the contralateral AIBG and increased γ-ATP in the ipsilateral PIBG were detected. Conclusion Widespread energy dysfunction was detected in patients with unilateral MTS.

RESUMO Objetivo Nós avaliamos as alterações metabóblicas através da espectroscopia de fósforo por ressonância magnética (31P-MRS) em pacientes com esclerose mesial temporal (EMT) unilateral. Método 31P-MRS de 33 pacientes com EMT unilateral foram comparadas aos de 31 controles. Foram selecionados os voxels nas regiões insulonuclear anterior e posterior (RINA e RINP) e frontal (RF). Os valores relativos de fosfodiésteres – PDE, fosfomonoésteres- PME, fosfato inorgânico- Pi, fosfocreatina –PCr, adenosina trifosfato total [ATPt = γ- + a- + b-ATP] e as razões PCr/ATPt, PCr/γ-ATP, PCr/Pi e PME/PDE foram obtidas. Resultados Nós encontramos anormalidades em pacientes com EMT em comparação aos controles. Redução de Pi nas RINA bilateralmente, RINP ipsilateral e RF contralateral, redução de PCr/γ-ATP nas RINA e RINP ipsilaterais foram detectadas. Aumentos de ATPT na RINA contralateral e aumento de γ-ATP na RINP ipsilateral também foram encontradas. Conclusão Disfunção energética difusa foi encontrada em pacientes com EMT unilateral.

Immunoglobulin G4-Related Sclerosing Disease Manifesting as Bilateral Tonsillar Hypertrophy on MR Images: A Case Report

Immunoglobulin G4-related sclerosing disease (IgG4-SD) is currently recognized as a distinct systemic disease involving various organs. We reported the imaging findings of a case of pathologically confirmed IgG4-SD involving bilateral palatine tonsils. CT and MRI showed diffuse enlargement of both palatine tonsils with homogeneous contrast enhancement. Focal contour bulging was noted in the right palatine tonsil. Lesions appeared as isointense on T1-weighted and slightly hyperintense on T2-weighted MRI images, as compared with muscle. The T2-weighted MRI image showed a striated pattern in both tonsils. Despite its rare occurrence, IgG4-SD should be included in the differential diagnoses of patients with symptomatic bilateral tonsillar hypertrophy that is non-responsive to medication.

Hepatoportal Sclerosis in Childhood: Descriptive Analysis of 12 Patients

Hepatoportal sclerosis (HPS) is defined as sclerosis of portal areas in the absence of cirrhosis. There is little information about HPS in children in the literature. The aim of this study was to describe the clinical presentation, associated disorders, laboratory characteristics and outcome of children who were diagnosed as HPS. This study included 12 children diagnosed as HPS by the Pathology Department between 2005 and 2011. Data were collected from the gastroenterology clinic charts retrospectively, including demographics, presentation characteristics, laboratory data and recent status of patients. Twelve patients were enrolled (6 girls, 6 boys). The median age of patients was 13.5 yr. Median age at the time of biopsy was 11 yr. Four patients had splenomegaly, 3 had esophageal varices, one had hepatopulmonary syndrome and had been transplanted. Smooth muscle antibody was found positive in 4 patients, without autoimmune hepatitis findings in liver biopsy. One patient had celiac disease and another patient had positive celiac disease serology but pathology findings. Another patient had Turner's syndrome. Mean follow-up time was 39 months (3.3 yr) after biopsy. Hepatoportal sclerosis does not necessarily present with portal hypertension in children.

An Immunoglobulin G4-Related Sclerosing Disease of the Small Bowel: CT and Small Bowel Series Findings

Immunoglobulin G4 (IgG4)-related sclerosing disease is rare and is known to involve various organs. We present a case of histologically proven IgG4-related sclerosing disease of the small bowel with imaging findings on computed tomography (CT) and small bowel series. CT showed irregular wall thickening, loss of mural stratification and aneurysmal dilatation of the distal ileum. Small bowel series showed aneurysmal dilatations, interloop adhesion with traction and abrupt angulation.

Timoma esclerosante: relato de caso / Sclerosing thymoma: case report

We present a rare case of thymoma in a 36-year old woman, who was initially diagnosed with severe myasthenia gravis and subsequently undergone surgical resection. During surgery tumor was found at the anterior mediastinum, tightly attached to the phrenic nerve, pleura and pericardium. Histological assessment showed large areas of sclerosis and fibrous collagenous tissue as well as islands of epithelial and lymphoid cells. Sclerosing thymoma, which is a rare subtype of thymoma (< 1%), was diagnosed, thus confirming the first report in Brazil. The patient showed partial improvement of symptoms associated with myasthenia gravis.

Relatamos um caso raro de timoma em uma mulher de 36 anos de idade, com clínica e diagnóstico de miastenia gravis de difícil controle clínico, submetida à ressecção cirúrgica. No intraoperatório, observou-se tumor no mediastino anterior, firmemente aderido ao nervo frênico, à pleura e ao pericárdio. Ao exame histológico, foram evidenciadas extensas áreas de tecido fibrocolagenoso e esclerose, assim como ilhas de células epiteliais e células linfoides. Diagnosticado timoma esclerosante, subtipo raro de timoma (< 1%), sendo este o primeiro caso relatado no Brasil. A paciente apresentou melhora parcial dos sintomas associados à miastenia gravis.

Multifocal idiopathic fibrosclerosis mimicking tuberculosis of the abdomen.

We present a 13 year old girl from Assam who had been treated as abdominal tuberculosis for 2 years due to the presence of refractory lymphocyte-predominant ascites and multiple small bowel strictures associated with significant anorexia and weight loss. On evaluation she was found to have retroperitoneal fibrosis with hydroureteronephrosis, mediastinal fibrosis and a retro-orbital pseudotumour. Based on these findings the diagnosis of Multifocal Idiopathic Fibrosclerosis (MIFS) was made. Ascites and multiple bowel strictures have been only rarely been described in association with MIFS. The other unique features in this patient were the early age of presentation, the presence of mediastinal fibrosis in association with retroperitoneal fibrosis, extensive soft tissue fibrosis of the neck, axillae and the presence of trismus. In a country like ours where Tuberculosis is commonplace, one would not think twice about treating such a case with antituberculous therapy. However, with a constellation of findings suggestive of a diffuse fibrotic process, MIFS should be an important consideration.©

Mediastinite esclerosante no diagnóstico diferencial de tumores mediastinais / Sclerosing mediastinitis in the differential diagnosis of mediastinal tumors

A mediastinite esclerosante é uma doença rara, caracterizada por tecido fibrótico mediastinal extenso, que mimetiza uma neoplasia devido à compressão ou invasão das estruturas mediastinais. Apresentamos três casos de síndrome de veia cava superior em que se comprovou a mediastinite esclerosante. A fisiopatologia relaciona-se a adenomegalias mediastinais, proliferação de fibroblastos e deposição de colágeno. As principais causas são histoplasmose e tuberculose, doenças prevalentes em nosso meio. O diagnóstico histopatológico geralmente é difícil por métodos pouco invasivos. Necessita-se de exploração cirúrgica para o diagnóstico definitivo e resolução da obstrução das vias aerodigestiva e vascular, uma vez que não há tratamento clínico efetivo para esta afecção.

Esclerosis hepato-portal: 10 anos de experiencia el el Instituto Nacional de Pediatria / Hepatoportal sclerosis. 10 years of experience in the National Institute of Pediatrics

Objetive: To assess the frecuency and clinical picture of Hepatoportal Sclerosis in a population of Mexican children of the Instituto Nacional de Pediatría, México City. Background: Hepatoportal Sclerosis is a disease of unknown etiology. It's diagnosis is difficut. The main clinical presentation is splenomegaly with or without hematemesis (portal hypertension). Splenoportography and liver histology study are the best procedures for diagnosis and must be performed by experts. Methods: We studied 7/106 children with portal hypertension during a period of 10 years, who were seen at the Instituto Nacional de Pediatría, México city. Inclusion criteria were specifical findings of splenoportography and histologic changes in liver biopsy. Results: We found 7/106 children. The main clinical manifestation were splenomegaly and hematemesis. We did not find any previous history of contact with arsenisc, vinyl chloride or copper sulfate. In 6/7 children a porto-systemic shunt was performed. Only one received propranolol and sclerotheraphy. At the time of this report all children have shown a good clinical course.

Esclerosis de várices esofágicas en niños con hipertensión portal / Esophageal sclerotherapy in children with portal hypertension

102 pacientes con diagnóstico de Hipertensión Portal(HTP) fueron evaluados en el hospital desde 1987 hasta 1995. A 57 se les realizó 2 o más sesiones de escleroterapia, 38 (66,6 por ciento) fueron del sexo masculino. La edad promedio al momento del diagnóstico fue 3.96 años (rango 2 meses-15 años). 33/57 (57,9 por ciento presentaban antecedentes neonatales (característico de la vena umbilical 31, sepsis 2). La hemorragia digestiva superior fue la forma de presentación más frecuente 63.2 por ciento seguida por esplenomegalía 35 por ciento y anemia 1.75 por ciento. El número de episodios de sangramientos fue 208, media de 3.6 y rango de 0-22. Se hicieron 279 sesiones de escleroterapia, media de 4.9 y rango de 2-18. Al comparar sangramiento y riesgo sangramiento paciente/mes, en el período post-tratamiento con pre y durante tratamiento se observó una diferencia altamente significativa. Se logró la obliteración de las várices esofágicas en 25 pacientes (44 por ciento) y una disminución significativa del calibre en 24 (42 por ciento) permaneciendo 8 sin variación

Carcinoma papilífero da tireóide: a propósito da variante esclerosante difusa / Thyroid carcinoma: a propos of the diffuse sclerosing variant

O autor descreve os quadros anatomopatológico e clínico-epidemiológico da variante esclerosante difusa do carcinoma papilífero da tireóide, seguidos de proposta diagnóstica quanto aos achados citopatológicos, ao mesmo tempo que demonstra o perfil histoquímico das mucinas neutras e ácidas contidas na substância acinar. Através da imunohistoquímica define a fenotipagem da variante passando a admitir que o infiltrado linfocitário resulta de resposta do hospedeiro aos antígenos tumorais. A análise pela citofotometria evidencia que a variante esclerosante difusa tem em comparaçäo com o carcinoma papilífero comum uma média de maior área nuclear e proporcional aumento de massa relativa de ADN, o que permite considerá-la, ao lado de informaçöes clínicas, como de mau prognóstico. A história natural deste subtipo de carcinoma papilífero sugere terapêutica cirúrgica inicial täo radical quanto possível.