Paraparesia espástica complicada como fenótipo neurológico em OPA1 / Complex spastic paraplegia as a neurological phenotype in an opa1 patient

RESUMO: A atrofia óptica autossômica dominante (ADOA) é uma das formas mais comuns de atrofias ópticas hereditárias, e causada por mutações no gene OPA1. Os pacientes afetados por essa doença geralmente apresentam perda visual na primeira década de vida, podendo apresentar manifestações extraoftalmológicas no decorrer dos anos, configurando uma síndrome chamada OPA1 plus ou ADOA-plus. Objetivos: Relatar caso de paciente portadora da síndrome ADOA-plus, estabelecendo correlações com casos descritos na literatura. Relato de caso: Paciente feminino, 30 anos, foi encaminhada para avaliação de quadro de atrofia óptica progressiva associada a sintomas de neuropatia periférica. Aos dois anos, foi diagnosticada com perda visual parcial em consulta de puericultura. Não relatou outros sintomas associados durante a infância e a adolescência. Aos 20 anos, apresentou dificuldades de deambular, fraqueza em membros inferiores e falta de equilíbrio. Aos 25 anos, após extensa investigação, foi identificada, através de sequenciamento de exoma, mutação patológica no gene OPA1 confirmando o diagnóstico ADOA-plus e iniciado tratamento com Coenzima Q10. Atualmente a paciente relata ataxia sensitiva, diminuição da acuidade visual progressiva, fasciculações e câimbras em MMII, disfagia e dispneia. Discussão: Muitos pacientes com ADOA-plus apresentam surdez neurossensorial como sintoma extraoftalmológico mais comum, além de quadros de parkinsonismo e demência, ataxia e ptose. Paciente relatada constitui um caso de atrofia óptica associado à neuropatia periférica, ataxia e miopatia. Devido à ampla variabilidade clínica dessa doença, deve-se investigar mutações no OPA1 em casos de paraparesia espástica progressiva associada à atrofia óptica, visto que possibilidade de tratamento com Coenzima Q10. (AU)

ABSTRACT: Introduction: Autosomal dominant optic atrophy (ADOA) is one of the most common forms of inherited optic atrophies and is caused by mutations in the OPA1 gene. Patients affected by this disease usually present visual loss in the first decade of life, and may present extra-ophthalmologic manifestations over the years, configuring a syndrome called OPA1 plus or ADOA-plus. Objectives: to report the case of a patient with ADOA-plus syndrome, establishing correlations with cases described in the literature, Case report: a 30-year-old female patient was referred for evaluation of progressive optic atrophy associated with symptoms of peripheral neuropathy. At two years of age, she was diagnosed with partial visual loss during a childcare visit. She reported no other associated symptoms during childhood and adolescence. At the age of 20, she presented with difficulty walking, lower limb weakness, and poor balance. At 25, after extensive investigation, a pathological mutation in the OPA1 gene was identified through exome sequencing, confirming the diagnosis of ADOA-plus, and treatment with Coenzyme Q10 was initiated. Currently the patient reports sensory ataxia, progressive decrease in visual acuity, fasciculations and cramps in the lower limbs, dysphagia and dyspnea. Discussion: Many patients with ADOA-plus present sensorineural deafness as the most common extra-ophthalmologic symptom, in addition to parkinsonism and dementia, ataxia and ptosis. The patient reported is a case of optic atrophy associated with peripheral neuropathy, ataxia and myopathy. Due to the wide clinical variability of this disease, OPA1 mutations should be investigated in cases of progressive spastic paraparesis associated with optic atrophy, since the possibility of treatment with Coenzyme Q10. (AU)

Monitoring optic chiasmatic-hypothalamic glioma volumetric changes by MRI in children under clinical surveillance or chemotherapy.

PURPOSE: Optic pathway gliomas represent 5% of pediatric brain tumors and are typically low-grade lesions. Because of their unpredictable clinical course, adequate treatment approaches have been controversial, involving surveillance, surgery, chemotherapy, and radiotherapy. In this study, we use volumetric imaging to compare evolution of optic chiasmatic-hypothalamic gliomas (OCHG) treated with and without chemotherapy, analyzing tumor volume variation during the overall period. METHODS: A total of 45 brain MRI were retrospectively analyzed for 14 patients with OCHG. Volumetric assessment of the lesions was performed by a neuroradiologist, using software DISPLAY. OCHG patients were allocated into two groups: group 1 (n = 8) who underwent chemotherapy and group 2 (n = 6) who did not receive chemotherapy. Outcome analysis was performed comparing tumor volume evolution of these two groups. RESULTS: The results showed a reduction of 4.4% of the volume of the lesions for group 1 after the end of chemotherapy, with an increase of 5.3% in volume in the late follow-up examination. For group 2, we found a slight reduction (5%) of the overall volume of the lesions, both with no statistical significance (p > 0.05). CONCLUSIONS: From the limited series analyzed in this study, no significant differences were observed in relation to the volume change of lesions treated or not treated with chemotherapy. Larger prospective clinical trials are needed to better evaluate the effect of chemotherapy and radiological response of OCHG.

Assessment of the cervical spine denticulate ligament using MRI volumetric sequence: Comparison between 1.5 Tesla and 3.0 Tesla.

BACKGROUND: Denticulate ligaments (DLs) are pial extensions on each side of the spinal cord, comprising about 20 to 21 pairs of fibrous structures connecting the dura mater to the spinal cord. These ligaments are significant anatomical landmarks in the surgical approach to intradural structures. To our knowledge, there is no previous study on the detection of DLs using MRI. METHODS: After IRB approval, we retrospectively evaluated 116 consecutive MRI scans of the cervical spine, using the volumetric sequence 3D COSMIC, 65 and 51 studies with 1.5T and 3.0T respectively. We did not include trauma and tumor cases. Two independent radiologists assessed the detection of cervical spine DLs independently and blinded for each cervical vertebral level. We compared the frequency of detection of these ligaments in 1.5 Tesla and 3.0 Tesla MRI using Fisher exact test considering P<0.05 as significant. We evaluated interobserver agreement with Kappa coefficient. RESULTS: We observed high detection frequency of the cervical spine DLs using both 1.5T (70 to 91%) and 3.0T (68 to 98%). We found no statistically significant difference in the detection frequency of ligaments between the 1.5T and 3.0T MRI in all vertebral levels. Using 3.0T, radiologists identified ligaments better in higher vertebral levels than for lower cervical levels (P=0.0003). Interobserver agreement on the identification of DL was poor both for 1.5T (k=0.3744; CI 95% 0.28-0.46) and 3.0T (k=0.3044; CI 95% 0.18-0.42) MRI. CONCLUSIONS: Radiologists identified most of the cervical DLs using volumetric MRI acquisition. Our results suggest 1.5T and 3.0T MRI performed similarly in the detection of DLs.

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

UNLABELLED: X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers / Adrenoleucodistrofia ligada ao X em pacientes femininas heterozigotas: mulheres não são meras portadoras

X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

A adrenoleucodistrofia ligada ao X (ADL-X) é uma doença recessiva ligada ao X, associada à grande variabilidade clínica. Mulheres heterozigotas portadoras do gene causador da doença são consideradas, tradicionalmente, como clinicamente normais ou com fenótipo clínico muito discreto. No entanto, a apresentação clínica deste grupo necessita ser melhor caracterizada e sistematizada. OBJETIVOS: Revisar e sistematizar as principais características clínicas de mulheres heterozigotas para ADL-X, seguidas em serviço de neurogenética. MÉTODOS: Foram revisados os principais achados clínicos, bioquímicos e neurorradiológicos das mulheres seguidas no serviço com o diagnóstico bioquímico de ADL-X. RESULTADOS: Nove mulheres foram identificadas e classificadas em três grupos: com doença grave e incapacitante; com evolução mais insidiosa e sintomas de paraparesia espástica; e com sintomas discretos apresentando diminuição da sensibilidade vibratória, reflexos vivos, mas sem queixas clínicas. A maioria dessas mulheres não possuía história familiar positiva para ALD-X. CONCLUSÕES: Mulheres heterozigotas para ALD-X apresentam um amplo espectro de manifestações clínicas, variando desde um fenótipo leve, subclínico até apresentações graves e incapacitantes.

Extradural arachnoid cysts in children.

BACKGROUND: Extradural arachnoid cysts in the spine are uncommon causes of spinal cord compression in the pediatric population that are thought to arise from congenital defects in the dura mater. Most reports describe such cysts as communicating with the intrathecal subarachnoid space through a small defect in the dura. Excision of the cyst with obliteration of the communicating dural defect is the mainstay of treatment in symptomatic patients. Solitary extradural arachnoid cysts have been reported in several studies, but multiple extradural arachnoid cysts are very rarely reported in children. MATERIALS AND METHODS: The authors report a case of multiple extradural spinal arachnoid cysts in a 14-year-old boy who presented progressive lower extremity weakness, myelopathy, and severe gait ataxia. Magnetic resonance (MR) of the spine demonstrated four extradural arachnoid cysts extending from T-1 to T-9. The patient underwent a thoracic laminoplasty for en bloc resection of the spinal extradural arachnoid cysts. Postoperatively, the patient's motor strength and ambulation improved immediately. CONCLUSIONS: Multiple spinal extradural arachnoid cysts are rarely reported in the literature. Excision of the cysts at the spinal cord level leads to a favorable outcome.

Disseminated cysticercosis with pulmonary involvement.

Cysticercosis is an important public health problem in developing countries. The central nervous system is the major site of involvement, although striated muscles and subcutaneous tissue are frequently involved in the disseminated form of disease. We describe a recent case in which pulmonary nodules due to cysticercosis were detected on CT and MRI.

Tomografia computadorizada e ressonância magnética nos oligodendrogliomas: correlação clínica e patológica / Computed tomography and magnetic resonance imaging findings in patients with oligodendrogliomas: clinical and pathological correlation

Oligodendrogliomas são neoplasias do tecido neuroepitelial glial originárias de oligodendrócitos. São tumores infreqüentes, responsáveis por cerca de 4 por cento a 7 por cento das neoplasias primárias do cérebro, predominantemente supratentoriais. O presente trabalho consistiu na avaliação dos achados de imagem pré-operatória em tomografia computadorizada e ressonância magnética e correlação clínica e patológica, levando-se em consideração a presença de tumores puros ou mistos, com componente astrocitário e o seu grau de anaplasia. O aspecto mais freqüente foi o de lesão hipodensa na tomografia computadorizada ou com hipossinal em T1 e hipersinal em T2 na ressonância magnética, podendo ter componente cístico, com pouco edema ao redor, apresentando calcificações, quase sempre grosseiras, em dois terços dos casos. Reforço após contraste ocorre em 80 por cento dos casos, na maioria discreto

Oligodendrogliomas are neuroepithelial neoplasms that originate from oligodendrocytes. These tumors account for 4% to 7% of all primary brain tumors and are most supratentorial. The purpose of this study was to evaluate the findings of computed tomography and magnetic resonance imaging examinations of patients with oligodendrogliomas and correlate these findings with clinical and pathological data. Oligodendrogliomas may be pure or mixed, present astrocytic elements and vary from well differentiated to anaplastic. The most common finding observed was a lesion that appeared hypodense on CT or had low-intensity signal on T1-weighted and high-intensity signal on T2-weighted magnetic resonance images. Cystic elements, mild surrounding edema and calcifications (usually coarse) in 2/3 of the cases were also observed. Tumor enhancement was generally mild and was observed in 80% of the cases.

Achados radiológicos da displasia broncopulmonar / Radiographic findings in bronchopulmonary dysplasia

Foi realizado estudo retrospectivo de 105 casos de recém-nascidos prematuros submetidos a assistência respiratória e que desenvolveram displasia broncopulmonar. Destes, 88,7 por cento apresentaram algum grau de membrana hialina logo após o nascimento. Do quarto ao décimo dia, 78 por cento apresentavam velamento flocoso, 50 por cento tinham velamento intersticial e 38 por cento, algum grau de hiperinsuflação. Com a evolução houve aumento na incidência do velamento intersticial (95,9 por cento), traves radiodensas (47,5 por cento) e áreas radiolúcidas (39,5 por cento), todos com pico de incidência entre um e três meses. Tendência oposta ocorreu com o velamento alveolar, que diminuiu de incidência gradativamente. Após um ano de idade, houve evidente predomínio de velamento intersticial e hiperinsuflação.

Alteraçöes radiológicas pulmonares na mucoviscidose: revisäo de 32 casos / Radiologic pulmonary findingss in cystic fibrosis: review of 32 cases

Radiografias torácicas de 32 pacientes com mucoviscidose, confirmadas clínica e laboratorialmente, foram analisadas para identificaçäo das principais alteraçöes pulmonares e sua evoluçäo. Hiperinsuflaçäo foi observada em 84 por cento dos pacientes, velamentos em 81 por cento e bronquiectasias em 56 por cento; atelectasias, lesöes pleurais, hipertensäo pulmonar e penumotórax foram vistos em menores proporçöes. Achados iniciais foram hiperinsuflaçäo, espessamento de paredes brônquicas e velamentos periféricos lineares. O curso da doença mostrou envolvimento progressivo dos pulmöes, com aumento da hiperinsuflaçäo, do espessamento de paredes brônquicas, aparecimento de bronquiectasias e hipertensäo pulmonar