The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.

INTRODUCTION: Smooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. Based on arteriographic findings, a distinct cerebrovascular disease has been proposed for ACTA2 heterozygous patients carrying the R179H mutation. RESULTS: We present the first integrated analysis of a severely compromised patient with the R179H mutation and define the arterial pathology of ACTA2-related cerebrovascular disease. Histologically, striking morphological abnormalities were present in cerebral arteries of all sizes. Massive intimal smooth muscle cell proliferation, fragmentation of the elastic laminae and medial fibromuscular proliferation characterized large arteries whereas prominent vessel wall thickening, fibrosis and smooth muscle cell proliferation were unique changes in small arteries. The medial fibrosis and smooth muscle cell proliferation explain the characteristic radiologic appearance of "straight arteries" and suggest impaired function of mutant smooth muscle cells. Actin three-dimensional molecular modeling revealed critical positioning of R179 at the interface between the two strands of filamentous actin and destabilization of inter-strand bundling by the R179H mutation, explaining the severe associated phenotype. CONCLUSIONS: In conclusion, these characteristic clinical and pathologic findings confirm ACTA2-related cerebrovascular disease as a new cerebrovascular disorder for which new therapeutic strategies need to be designed.

Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings.

Pilomyxoid astrocytoma, an entity described as a histological variant of pilocytic astrocytoma, is a rare primary tumor of the central nervous system. It is usually located in the hypothalamic-chiasmatic area, affecting children with a mean age of 10 months. It has a high rate of recurrence and cerebrospinal fluid dissemination, which may be present throughout the neuroaxis. Due to its topography, it may present developmental delay in childhood and diencephalic syndrome, characterized by extreme weight loss, lack of fat accumulation, hyperactivity, euphoria and alertness. Magnetic resonance imaging has an important role in its diagnosis, staging and follow-up of pilomyxoid astrocytoma. However, for a definitive diagnosis, anatomopathology is particularly important to differentiate it from pilocytic astrocytoma. Some cases, as in this present one, have simultaneous histological features of pilocytic and pilomyxoid astrocytomas, constituting a group called intermediate pilomyxoid astrocytoma. Surgery is the best treatment option and it usually requires adjuvant therapy.

Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings / Astrocitoma pilomixoide intermediário e síndrome diencefálica: aspectos de imagem

Pilomyxoid astrocytoma, an entity described as a histological variant of pilocytic astrocytoma, is a rare primary tumor of the central nervous system. It is usually located in the hypothalamic-chiasmatic area, affecting children with a mean age of 10 months. It has a high rate of recurrence and cerebrospinal fluid dissemination, which may be present throughout the neuroaxis. Due to its topography, it may present developmental delay in childhood and diencephalic syndrome, characterized by extreme weight loss, lack of fat accumulation, hyperactivity, euphoria and alertness. Magnetic resonance imaging has an important role in its diagnosis, staging and follow-up of pilomyxoid astrocytoma. However, for a definitive diagnosis, anatomopathology is particularly important to differentiate it from pilocytic astrocytoma. Some cases, as in this present one, have simultaneous histological features of pilocytic and pilomyxoid astrocytomas, constituting a group called intermediate pilomyxoid astrocytoma. Surgery is the best treatment option and it usually requires adjuvant therapy.

O astrocitoma pilomixoide, entidade descrita como variante histológica do astrocitoma pilocítico, é um raro tumor primário do sistema nervoso central. Geralmente, localiza-se em topografia hipotálamoquiasmática, acomentendo crianças com idade média de 10 meses. Apresenta alta taxa de recorrência e disseminação liquórica, podendo se apresentar ao longo de todo o neuroeixo. Dada sua topografia, pode se apresentar com atraso do desenvolvimento na infância e síndrome diencefálica, caracterizada por emagrecimento extremo, ausência de acúmulo de tecido adiposo, hiperatividade motora, euforia e estado de alerta. A ressonância magnética possui um papel importante para o diagnóstico, estadiamento e seguimento do astrocitoma pilomixoide. No entanto, para o diagnóstico definitivo, o estudo anatomopatológico é fundamental, principalmente na diferenciação com o astrocitoma pilocítico. Além disso, em alguns casos, como o aqui apresentado, evidencia-se a apresentação simultânea de características histológicas do astrocitoma pilomixoide e pilocítico, constituindo um grupo denominado astrocitoma pilomixoide intermediário. A cirurgia é a melhor opção de tratamento e geralmente há necessidade de tratamento adjuvante.

Perforated diverticulitis of the appendix: ultrasonographic diagnosis / Diverticulite perfurada do apêndice cecal: diagnóstico ultrassonográfico

Appendiceal diverticulitis is an uncommon condition, mimicking appendicitis, but with greater risk of perforation and complications. Preoperative diagnosis is rare, but can be achieved by ultrasonography as identification of the diverticulum and classical signs of appendicitis. We report a case of ultrasonographic diagnosis of a perforated appendiceal diverticulitis in an adult male and discuss this condition.

A diverticulite do apêndice é uma patologia incomum, eventualmente confundida com a apendicite cecal, tendo, porém, maior risco de perfuração e de outras complicações. Seu diagnóstico pré-cirúrgico é raramente realizado, mas pode ser obtido pela ultrassonografia com a demonstração de um divertículo associado a sinais clássicos de apendicite. Relatamos o caso de um homem adulto em que foi possível o diagnóstico ultrassonográfico de diverticulite do apêndice cecal e revisamos os principais aspectos relacionados a essa condição.

Perforated diverticulitis of the appendix: ultrasonographic diagnosis.

Appendiceal diverticulitis is an uncommon condition, mimicking appendicitis, but with greater risk of perforation and complications. Preoperative diagnosis is rare, but can be achieved by ultrasonography as identification of the diverticulum and classical signs of appendicitis. We report a case of ultrasonographic diagnosis of a perforated appendiceal diverticulitis in an adult male and discuss this condition.

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis / Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.

Em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1) Deslocamento anterior das fibras pontinas transversas; (2) Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3) Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis.

In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.

Laringocele: aspecto ultra-sonográfico - relato de caso / External laryngocele: sonographic appearance - a case report

Laringoceles são lesões relativamente raras definidas como dilatações anômalas dos sáculos dos ventrículos laríngeos. A classificação usual divide a laringocele em interna, externa e combinada ou mista. Laringoceles internas são as que se localizam medialmente à cartilagem tireóidea e geralmente causam compressão nas bandas ventriculares levando a rouquidão e sintomas compressivos na via aérea. As externas se estendem através da membrana tireóidea, apresentando-se como massas cervicais, e as mistas são as que ocupam as duas regiões, podendo causar ambos os sintomas. O diagnóstico é geralmente feito por tomografia computadorizada e/ou laringoscopia. Apresentamos um caso de laringocele mista em que o diagnóstico foi sugerido no exame de ultra-sonografia, num paciente encaminhado com história de massa cervical.

Laryngoceles are fairly unusual diseases defined as anomalous saccular dilatation of the laryngeal ventricles. The usual classification divides laryngoceles into internal, external and mixed types. Internal laryngoceles are those located medially to the thyrohyoid membrane and usually compress the false vocal cords causing hoarseness or airway obstructive symptoms. External laryngoceles extend through the thyrohyoid membrane, presenting as cervical masses; and mixed laryngoceles present both the internal and external components with their respective symptoms. Diagnosis is usually defined by computed tomography and/or laryngoscopy. This is a report of a case of mixed laryngocele diagnosed by ultrasonography in a patient referred for investigation with a history of palpable cervical mass.