Paulo R. Benites Filho

Septo-optic dysplasia plus: case report

Septo-optic dysplasia (SOD) is a syndrome composed by optic nerve and septum pellucidum dysgenesis. It has been classified into two subsets according to the embryogenesis and the neuropathological findings. Basically, the difference between these two groups is the presence or not of schizencephaly. The term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia. We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development. Neurological examination demonstrated spastic left hemiparesis and ophtalmological evaluation revealed bilateral optic disc hypoplasia. The head computed tomography (CT) scan showed absence of the septum pellucidum, ventricular asymmetry and schizencephaly. The magnetic resonance imaging (MRI) showed complete absence of the septum pellucidum associated to optic nerves and chiasma atrophy, schizencephaly and cortical dysplasia. The patient underwent an evoked potential examination with flash stimulation, which revealed bilateral absence of cortical evoked potential. She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans.

Granular cell tumor of the neurohypophysis: report of a case with unusual age presentation

Granular cell tumor (GCT) usually occurs as a solitary, small, nodular tumor and rarely grows to a sufficient size to present symptoms. The tumor is more prevalent in female adults. The authors report a case of an 8-year-old boy with GCT of the neurohypophysis presenting with central precocious puberty. Few cases of symptomatic GCT have been reported in the literature, none of them in a patient in the first decade of life. Clinical picture, histopathological features, and histogenesis of GCT of neurohypophysis are discussed.

Ressonância magnética funcional na determinação da lateralização da área cerebral da linguagem

Functional magnetic resonance imaging (fMRI) is a technique for detecting minimal changes in brain perfusion and oxygenation secondary to neuronal activation. Its application in the pre-surgical evaluation of epileptic patients with temporal mesial sclerosis is currently being under investigation in several centers. This study aims to describe an activation paradigm for the evaluation of language and memory functions, as an alternative to the worldwide used Wada test, which is an invasive procedure. In order to propose a paradigm adapted to the Portuguese language, we report our experience in determining the dominant cerebral area for language through fMRI with a verbal fluency task. The results of the fMRI from 19 patients studied in Curitiba in a period of approximately two years were studied. Sixteen of them presented with left hemispheric cerebral language dominance. In five patients, results from fMRI and Wada test could be compared and agreed in localization. Our results reinforce the view that fMRI may become an essential tool for medical practice, perhaps for the determination of eloquent areas in the evaluation of candidates for epilepsy surgery.

Central nervous system hemorrhage in thrombocytopenic patients: computed tomographic findings in 21 cases

OBJECTIVE To describe the CT scan findings of 21 thrombocytopenic patients with central nervous system (CNS) hemorrhage. METHOD Retrospective study of the computed tomography (CT) of 21 platelet-depleted patients with CNS hemorrhage. One patient presented two episodes of hemorrhagic episode with different intervals. The clinical data were obtained by the review of the medical records. Two radiologists analyzed the films and reached the decisions by consensus. The following findings were studied: type of bleeding, number of lesions, topography, laterality, size and associated findings. RESULTS Intraparenchymal hemorrhage (IPH) was the most common findings, found in 20 cases, being six of them associated with subarachnoid and intraventricular hemorrhages. The size of the lesions varied between 1.8 and 10.5 cm. The parietal lobes were more commonly affected (n=11, 50%), followed by the temporal (n=7, 31.8%), frontal (n=7, 31.8%) and occipital (n=2, 9.09%) lobes. In 15 cases (68.2%) there was a single area of hemorrhage and in the remaining cases there were multiple hemorrhages. Associated findings were found in 20 cases. The most prevalent were edema (n=17, 77.3%), hydrocephalus (10, 45.4%) and midline shift (n=9, 41%). CONCLUSION The most frequent CT scan findings in thrombocytopenic patients with CNS hemorrhage are single IPH, located mostly in the parietal, temporal and frontal lobes, with varied sizes and associated with edema, hydrocephalus and midline shift.

Early presentation of squamous cell carcinoma after bone marrow transplantation in a boy with Fanconi anemia

Os autores relatam o caso de um menino de 11 anos de idade com anemia de Fanconi que foi submetido a transplante de medula ossea. Com 763 dias de evolucao, foi detectada uma lesao ulcerada na lingua, compativel com carcinoma de celulas escamosas. Poucos casos semelhantes foram reportados na literatura, geralmente envolvendo as membranas mucosas em pacientes adultos. Os fatores relacionados ao desenvolvimento de neoplasias secundarias em transplante de medula ossea sao discutidos e a idade precoce de apresentacao do paciente enfatiza a necessidade de um alto indice de suspeicao, mesmo em pacientes muito jovens, para que se faca o diagnostico da lesao em fase inicial.

Comparative study of abnormalities of central nervous system in children and adults autopsied after bone marrow transplantation

INTRODUCAO: Foram comparadas as anormalidades encontradas no sistema nervoso central de adultos e criancas submetidos a autopsia apos transplante de medula ossea (TMO) no Departamento de Patologia Medica da Universidade Federal do Parana (UFPR). METODOS: Relatorios das autopsias de 180 pacientes foram revistos. Foram considerados criancas os pacientes abaixo de 15 anos; adultos, aqueles com 15 ou mais. A idade, o sexo, o diagnostico clinico na epoca do TMO, o tempo de sobrevivencia, as anormalidades neuropatologicas e a causa da morte foram analisados. RESULTADOS: Nas criancas (26,6% do total) e nos adultos (73,4% do total) o principal diagnostico clinico previo ao TMO foi, respectivamente, anemia aplasica severa (31,2%) e leucemia mieloide cronica (36,3%). O tempo medio de sobrevivencia pos-TMO para criancas foi de 102,6 dias; para os adultos, 185,9. Lesoes cerebrais foram consideradas causa de morte em 20,8% dos casos pediatricos e 11,3% do grupo adulto. As anormalidades neuropatologicas foram morfologicamente similares nas criancas e nos adultos e apresentaram, respectivamente, as seguintes prevalencias: doencas cerebrovasculares em 58,3% e 56% (p = 0,8655), neurotoxoplasmose em 6,2% e 3% (p = 0,3856) e infeccoes em 27 e em 25,7% (p = 0,8489). CONCLUSOES: As criancas tiveram sobrevida menor, maior numero de casos de neurotoxoplasmose e duas vezes mais lesoes graves do sistema nervoso central que o grupo adulto.

Lipossarcoma mixóide de mediastino: relato de caso e revisão da literatura

As neoplasias mediastinais de origem mesenquimal sao raras, representando menos de 6% dos casos. A maioria sao lipossarcomas, apesar da aparencia cistica ser incomum. Os autores apresentam um caso de paciente feminina com 58 anos de idade, com queixa de dispneia, com piora progressiva desde os 52 anos. Estridor laringeo era auscultado durante o exame fisico, e a tomografia computadorizada de torax demonstrou uma lesao cistica no mediastino posterior. O tumor foi ressecado e o estudo histologico definiu o diagnostico de lipossarcoma mixoide.