Nuestra experiencia en el manejo de los cavernomas de tronco, de tálamo y de ganglios basales / Our experience in the management of trunk, thalamus and basal ganglia cavernomas

OBJETIVO: Presentar nuestra experiencia en el manejo de los cavernomas de tronco cerebral, de tálamo y de ganglios basales. MATERIAL Y MÉTODO: Analizamos una serie de 16 pacientes asistidos en nuestra Institución, entre enero de 1990 y diciembre del año 2013. De ellos, 9 fueron varones y 7 mujeres. El rango de edad osciló entre 3 y 61 años. RESULTADOS: Siete debutaron con hemorragia cerebral, de ellos 4 se localizaban en protuberancia y 3 en el bulbo raquídeo. Siete pacientes tuvieron cavernomas múltiples, de ellos 3 tenían familiares con la misma enfermedad. El procedimiento diagnóstico de elección fue la resonancia nuclear magnética de cerebro en todos, y en los pacientes con cavernomas múltiples se completó el estudio con resonancia nuclear magnética de médula espinal. El tratamiento fue conservador en 9 enfermos, quirúrgico en 6 y radiocirugía estereotáctica en 1 enfermo; a éste paciente hubo necesidad de operarlo 6 meses después del tratamiento radiante por un resangrado voluminoso en la protuberancia. DISCUSIÓN: La cirugía es exitosa cuando el cavernoma se ubica a 2 mm de la piamadre, o del epéndimo. La radiocirugía puede ser causante de resangrado y de mayor volumen que las hemorragias previas. Por último, el tratamiento conservador sigue teniendo vigencia en los pacientes que se recuperaron neurológicamente y cuando se ubican en la profundidad del tronco cerebral, tálamo óptico o ganglios basales. CONCLUSIÓN: Cada paciente debe evaluarse individualmente para decidir el tipo de tratamiento, teniendo en cuenta la edad, la recuperación de los signos neurológicos, el volumen y la localización precisa del cavernoma

Objective: To present our experience in the management of brainstem, thalamus and basal ganglia cavernous malformations. Material and Method: We analyzed a series of 16 patients admitted to our Institution between January 1990 and December 2013. Nine of them were male and 7 female. Age ranged between 3 and 61. Results: Seven patients presented brainstem hemorrhage, 4 being pontine and the remaining 3 were medullary. Seven patients had multiple cavernomas, and 3 of them had a family background with the disease. The chosen diagnostic procedure was brain MRI in all patients; in patients with multiple cavernomas spine MRI was also requested. Nine patients received conservative treatment, 6 patients underwent surgery and one was treated with stereotactic radiosurgery but had to be operated on six months after radiation treatment due to voluminous re-bleeding at protuberance. Discussion: Surgery is successful when the cavernous malformation is placed 2 mm away from pia mater or ependyma. Radiosurgery can cause re-bleeding and of a greater volume than previous hemorrhages. Finally, conservative treatment is useful in patients who get neurologically recovered and when malformations are placed deep in brainstem, optic thalamus or basal ganglia. Conclusion: Each patient has to be individually assessed to individually assessed to make a decision regarding the type of treatment, taking into account age, recovery of neurological signs, volume, and precise location of cavernous malformation

Validation of a rabbit model of neuropathy induced by immunization with gangliosides.

The induction of neurological signs by immunization of rabbits with gangliosides has been a controversial topic for many years. Recently, Yuki et al. [N. Yuki, M. Yamada, M. Koga, M. Odaka, K. Susuki, Y. Tagawa, et al. Animal model of axonal Guillain-Barré syndrome induced by sensitization with GM1 ganglioside. Ann Neurol 2001;49:712-720.] described an immunization protocol, including keyhole lympet hemocyanin in addition to ganglioside that induced a neurological disease resembling human Guillain-Barré syndrome. We employed this protocol in our laboratory and succeeded in reproducing the disease. Five different experiments were performed during a period of two years by different operators, using different batches of drugs, in a total of 26 rabbits. Despite minor variations in onset time and severity of the induced disease, the model proved to be reproducible. Both gangliosides and keyhole limpet hemocyanin are required for induction of disease.

Gliomas cerebrales de bajo grado en el adulto / Low grade gliomas un adults

Objetivo. Bajo esta denominación se incluyen a los astrocitomas fibrilares y protoplasmáticos, a los oligodendrogliomas, y a los oligoastrocitomas o tumores mixtos, que corresponden a los grados II de la nueva clasificación de la OMS . Los astrocitomas de bajo grado representan el 15% de los gliomas hemisféricos cerebrales en el adulto. Los oligodendrogliomas tienen una incidencia del 4% (2,4). Presentamos la experiencia de nuestro grupo de trabajo con este tipo de tumores entre enero de 1972 y diciembre de 2006.Material y método. Se analizaron las historias clínicas de 25 pacientes adultos que presentaron esta variedad de tumor, de los cuales 15 eran mujeres y 10 varones, que representan el 15,6% de los gliomas cerebrales en este grupo etario. Resultados: Quince eran astrocitomas fibrilares, ocho oligodendrogliomas y dos oligoastrocitomas. El principal estudio de imagen fue la resonancia nuclear magnética con espectroscopia. El tratamiento dependió de la ubicación y del volumen tumoral, siendo la cirugía y la radioterapia las modalidades terapéuticas mas empleadas. El tumor recidivó en 16 enfermos, con una media de 37 ± 21 meses después del diagnóstico, cuyas histopatologías mostraron ser: astrocitomas anaplásicos en 7 y glioblastomas multiformes en 9. Han fallecido 16 enfermos, 14 por el tumor cerebral, uno por cáncer de lengua y otro por embolia pulmonar producida a los 10 días de la cirugía, con una mediana de sobrevida de 44 meses (10 días a 120 meses). De los 9 pacientes que viven, 7 tienen oligodendrogliomas, 2 astrocitomas, y uno tiene un oligoastrocitoma; 7 requieren medicación antiepilética, ninguno tiene secuelas neurológicas, con una mediana de sobrevida de 36 meses (6 a 120 meses); dos han tenido recidiva, correspondientes a un oligodendroglioma y a un oligoastrocitoma, a los 22 y 60 meses respectivamente del diagnóstico, en los dos casos el tumor pasó de ser un grado II a grado III...

Objective. Gliomas reviewed in this article are grade II tumors according to the World Health Organization (WHO), that include: fibrillary and protoplasmic astrocytomas, oligodendrogliomas and oligoastrocytomas or mix tumors (1,2,3).Low grade astrocytomas constitute 15% of brain tumors in adults, while low grade oligodendrogliomas represent 4% (2,4). We present our experience with this type of tumor operated on between January 1972 and December 2006.Material and Method. The clinical reports of 25 patients with this type of tumor were analyzed, 15 women and 10 men, which represent 15,6% of hemispheric brain gliomas in adults in our series.Results. Fifteen were fibrillary astrocytomas, 8 oligodendrogliomasand 2 oligoastrocytomas. Treatment depended on tumor localization and size. Surgery and radiotherapy were thetherapeutic modalities most frequently used. Tumor recurrence was observed in 16 patients, with a media of 37+/- 21 months after diagnosis: 7 anaplastic astrocytomas and 9 glioblastomasmultiforme. In this series, 16 patients died with a median of 44 months (10 days to 120 months) after diagnosis. Cause of death were: tumor itself, in 14 cases, tongue cancer in 1, and pulmonaryembolism after surgery in another. From the 9 surviving patients, 6 have oligodendrogliomas, 2 astrocytomas and 1 an oligoastrocytoma. Seven patients need antiepileptic drug and none of them presents neurological sequels. The survival mediana was 36 months (6 to 120 months). Two of them had tworecurrences between 22 and 60 months after diagnosis, one oligodendroglioma and the other an oligoastrocytoma; in both cases tumors grade II became tumors grade III. Conclusion. The relative incidence of 15,6% in adult gliomas of our series is similar to the international experience. Age, younger as 40 years, seizures, as clinical presentation, extension of surgical resection, low Ki 67 index in astrocytomas, and...

Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years thereafter. In addition, the patient had severely delayed gross motor milestones, marked muscle weakness, and dilated cardiomyopathy that progressed to congestive heart failure. He also had persistently elevated urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids and low blood levels of cholesterol. Detailed histopathologic evaluation of the skeletal muscle biopsy showed high activity of succinate dehydrogenase, a generalized decrease of COX activity, and abundant ragged-red fibers. Electron microscopic studies revealed multiple mitochondrial abnormalities in lymphocytes and monocytes, in the striated muscle, and in the postmortem samples (muscle, heart, liver, and brain). Biochemical analysis showed a pronounced and constant lactic acidosis, and abnormal urinary organic acid excretion (unchanged in the fasting and postprandial states). In addition, in CSF there was a marked increase of lactate and beta-hydroxybutyrate (beta-HOB) and also a high systemic ratio beta-HOB/acetoacetate. Enzymatic assay of the respiratory chain in biopsied muscle showed 10% of complex I activity and 24% of complex IV activity compared with controls. Molecular studies of the mitochondrial genome revealed an A to G mutation at nucleotide pair 3243 in mitochondrial DNA, a well-known pathogenetic mutation (MELAS mutation) in all the patient's tissues and also in the blood specimens of the probands mother and sibs (4 of 5). The diagnosis of MELAS mutation was reinforced by the absence of an identifiable mutation in the X-linked G4.5 gene of the propositus. The present observation gives additional evidence of the variable clinical expression of mtDNA mutations in humans and demonstrates that all clinical variants deserve adequate investigation to establish a primary defect. It also suggests adding Barth-like syndrome to the list of phenotypes with the MELAS mutation.

[Posterior cortical atrophy: anatomo-clinical variant of Alzheimer's disease]. / L'atrophie corticale postérieure: variante anatomo-clinique de la maladie d'Alzheimer.

The authors report the case of a 66-year-old woman who developed progressive occipital dysfunction and lately a dementing illness. Brain CT revealed posterior cerebral atrophy. Post-mortem examination showed the characteristic features of Alzheimer's disease, mainly in the posterior areas, relatively sparing the amygdala and Ammon's horn. The occurrence of focal signs and lesions in Alzheimer's disease is emphasized.