Quistes aracnoideos de la cisura coroidea y epilepsia parcial compleja / Arachnoid cysts of the choroidien fissure and parcial complex epilepsy

El propósito del presente trabajo es mostrar la asociación de epilepsia parcial compleja con quistes aracnoideos de la fisura coroidea. Examinamos los informes de 71 pacientes portadores de quistes aracnoideos, estudiados por IRM o TAC, 10 fueron quistes de la fisura coroidea. De los 10 pacientes portadores de quistes aracnoideos de la cisura coroidea 5 presentaron antecedentes de epilepsia parcial compleja

Quistes aracnoideos de la cisura coroidea y epilepsia parcial compleja / Arachnoid cysts of the choroidien fissure and parcial complex epilepsy

El propósito del presente trabajo es mostrar la asociación de epilepsia parcial compleja con quistes aracnoideos de la fisura coroidea. Examinamos los informes de 71 pacientes portadores de quistes aracnoideos, estudiados por IRM o TAC, 10 fueron quistes de la fisura coroidea. De los 10 pacientes portadores de quistes aracnoideos de la cisura coroidea 5 presentaron antecedentes de epilepsia parcial compleja (AU)

Malformaciones craneoencefálicas: diagnóstico por resonancia magnética / Central nervous system malformations: MR diagnosis

Entre abril de 1989 y julio de 1992, se estudiaron por RNM 60 pacientes con trastornos de la organogénesis; con un aparato Toshiba MRT 50 de 0,5 T, utilizando secuencias SE T1, T2 y FE T1 con cortes axiales coronales y sagitales. En la mayor parte de los casos se empleó sedación con nitrato de cloral. De los 60 pacientes con trastornos de la organogénesis, se observaron alteraciones de la oclusión 41, de la diverticulación 3, de la migración 13, de la talla 10, destructivas 6, y quistes aracnoides y neuroepiteliales 19 casos. Existieron malformaciones complejas donde se asociaron más de un tipo de anomalías en el 41,67% de los casos. La patología de mayor frecuencia fue la agenesia del cuerpo calloso en 21 pacientes (35%), la cual se asoció con malformación de Chiari en 15 pacientes (20%). La imagen por RNM valora anomalías morfológicas mediante el estudio en los tres planos del espacio y ofrece una mejor diferenciación de contraste entre sustancia blanca, en particular en secuencias FE T1 y densidad protónica. Son sus limitaciones la valoración de las calcificaciones y alteraciones óseas asociadas, patrimonio de la TC

Malformaciones craneoencefálicas: diagnóstico por resonancia magnética / Central nervous system malformations: MR diagnosis

Entre abril de 1989 y julio de 1992, se estudiaron por RNM 60 pacientes con trastornos de la organogénesis; con un aparato Toshiba MRT 50 de 0,5 T, utilizando secuencias SE T1, T2 y FE T1 con cortes axiales coronales y sagitales. En la mayor parte de los casos se empleó sedación con nitrato de cloral. De los 60 pacientes con trastornos de la organogénesis, se observaron alteraciones de la oclusión 41, de la diverticulación 3, de la migración 13, de la talla 10, destructivas 6, y quistes aracnoides y neuroepiteliales 19 casos. Existieron malformaciones complejas donde se asociaron más de un tipo de anomalías en el 41,67% de los casos. La patología de mayor frecuencia fue la agenesia del cuerpo calloso en 21 pacientes (35%), la cual se asoció con malformación de Chiari en 15 pacientes (20%). La imagen por RNM valora anomalías morfológicas mediante el estudio en los tres planos del espacio y ofrece una mejor diferenciación de contraste entre sustancia blanca, en particular en secuencias FE T1 y densidad protónica. Son sus limitaciones la valoración de las calcificaciones y alteraciones óseas asociadas, patrimonio de la TC

[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]. / Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurológico.

This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack of urinary ketone bodies, normal levels of plasma aminoacids and normal urinary excretion of p-hydroxyphenolic acids, led us to look for a ketogenic defect. An abnormal profile of urinary organic acids detected by thin layer chromatography and later characterized and quantified by gas chromatography-mass spectrometry (Figs. 1, 2; Table 1), showed a marked increase in the acidic metabolites typical of the 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. The activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase was absent in white cell pellets and between 2-5% of the control values in skin fibroblasts (Table 2). Treatment of the disorder, mainly restricted leucine or low-protein diet and addition of L-carnitine had no significant effect on the severe neurological injuries present since the first illness. MRI of the brain, at the age of 1 year and 8 months, showed images in T1 suggestive of marked cerebral atrophy and in T2 hyperintensive images predominating in the right frontal and posterior parietal areas and of the punctiform lesions in the basal ganglia, particularly in the heads of both caudate nuclei.(ABSTRACT TRUNCATED AT 250 WORDS)

Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurologico / 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage

Se trata de la primera descripción en Argentina de una 3-hidroxi-3-metilglutárica aciduria (HMG-Aciduria), defecto genético de la cetogénesis hepática y en el último paso catabólico de la leucina. A la edad de 4 meses, el paciente debutó con un grave cuadro clínico evocador de un Síndrome de Reye; la ausencia de cambios en los aminoácidos séricos y urinários, como asimismo el no incremento en la excreción de los ácidos p-hidroxifenólicos y la presencia de acidosis metabólica sin cetosis, orientaron hacia defecto cetogénico. Un perfil anormal de ácidos orgánicos urinarios, detectado por cromatografía en capa delgada y luego caracterizado y cuantificado por cromatografía de gas-espectrometría de masa, demostró un muy marcado incremento de los metabolitos típicos de la HMG-Aciduria: 3-hidroxi-3-metilglutárico, 3 metilglutacónico, 3-metilglutárico y el 3-hidroxisovalérico. La actividad de la 3-hidroxi-3-metilglutaril-CoA Liasa en leucocitos y fibroblastos cultivados de una biopsia de piel del paciente, señaló una ausencia total en los primero y entre un 2-5% de los valores controles en los segundos. La terapia aplicada en base a una dieta restrictiva en leucina o hipoproteica, hipograsa y la administración continua de L-carnitina no logró mayores efecto sobre el cuadro neurológico ya evidenciado a partir de la primera crisis. La resonancia magnética del cerebro, realizada al año y 8 meses de edad, mostró en T1 imágenes sugestivas de una marcada atrofia cerebral y en T2 imágenes hiperintensas predominantes en la región frontal derecha y parietales posteriores y de tipo puntiforme en los ganglios basales, en particular en la cabeza de ambos núcleos caudados. Estos hallazgos eran compatibles con gliosis y/o desmielinización de la sustancia blanca y necrosis neuronal de la sustancia gris, objetivaciones en probable correlato al profundo retardo sicomotor convulsiones, microcefalia e hipotonía generalizada del niño e interpretado más bien como de tipo secuelar que como otra variante fenotípica de la enfermedad. De allí el acento en señalar la importancia de la alta presunción clínica y de la precocidad del tratamiento inicial sindrómico en la emergencia metabólica

Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurológico. / [3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]

This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack of urinary ketone bodies, normal levels of plasma aminoacids and normal urinary excretion of p-hydroxyphenolic acids, led us to look for a ketogenic defect. An abnormal profile of urinary organic acids detected by thin layer chromatography and later characterized and quantified by gas chromatography-mass spectrometry (Figs. 1, 2; Table 1), showed a marked increase in the acidic metabolites typical of the 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. The activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase was absent in white cell pellets and between 2-5

of the control values in skin fibroblasts (Table 2). Treatment of the disorder, mainly restricted leucine or low-protein diet and addition of L-carnitine had no significant effect on the severe neurological injuries present since the first illness. MRI of the brain, at the age of 1 year and 8 months, showed images in T1 suggestive of marked cerebral atrophy and in T2 hyperintensive images predominating in the right frontal and posterior parietal areas and of the punctiform lesions in the basal ganglia, particularly in the heads of both caudate nuclei.(ABSTRACT TRUNCATED AT 250 WORDS)

Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurológico. / [3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]

This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack of urinary ketone bodies, normal levels of plasma aminoacids and normal urinary excretion of p-hydroxyphenolic acids, led us to look for a ketogenic defect. An abnormal profile of urinary organic acids detected by thin layer chromatography and later characterized and quantified by gas chromatography-mass spectrometry (Figs. 1, 2; Table 1), showed a marked increase in the acidic metabolites typical of the 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. The activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase was absent in white cell pellets and between 2-5

of the control values in skin fibroblasts (Table 2). Treatment of the disorder, mainly restricted leucine or low-protein diet and addition of L-carnitine had no significant effect on the severe neurological injuries present since the first illness. MRI of the brain, at the age of 1 year and 8 months, showed images in T1 suggestive of marked cerebral atrophy and in T2 hyperintensive images predominating in the right frontal and posterior parietal areas and of the punctiform lesions in the basal ganglia, particularly in the heads of both caudate nuclei.(ABSTRACT TRUNCATED AT 250 WORDS)

Deficiencia de la 3-hidroxi-3-metilglutaril coenzima-A liasa como causa de severo daño neurologico / 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage

Se trata de la primera descripción en Argentina de una 3-hidroxi-3-metilglutárica aciduria (HMG-Aciduria), defecto genético de la cetogénesis hepática y en el último paso catabólico de la leucina. A la edad de 4 meses, el paciente debutó con un grave cuadro clínico evocador de un Síndrome de Reye; la ausencia de cambios en los aminoácidos séricos y urinários, como asimismo el no incremento en la excreción de los ácidos p-hidroxifenólicos y la presencia de acidosis metabólica sin cetosis, orientaron hacia defecto cetogénico. Un perfil anormal de ácidos orgánicos urinarios, detectado por cromatografía en capa delgada y luego caracterizado y cuantificado por cromatografía de gas-espectrometría de masa, demostró un muy marcado incremento de los metabolitos típicos de la HMG-Aciduria: 3-hidroxi-3-metilglutárico, 3 metilglutacónico, 3-metilglutárico y el 3-hidroxisovalérico. La actividad de la 3-hidroxi-3-metilglutaril-CoA Liasa en leucocitos y fibroblastos cultivados de una biopsia de piel del paciente, señaló una ausencia total en los primero y entre un 2-5% de los valores controles en los segundos. La terapia aplicada en base a una dieta restrictiva en leucina o hipoproteica, hipograsa y la administración continua de L-carnitina no logró mayores efecto sobre el cuadro neurológico ya evidenciado a partir de la primera crisis. La resonancia magnética del cerebro, realizada al año y 8 meses de edad, mostró en T1 imágenes sugestivas de una marcada atrofia cerebral y en T2 imágenes hiperintensas predominantes en la región frontal derecha y parietales posteriores y de tipo puntiforme en los ganglios basales, en particular en la cabeza de ambos núcleos caudados. Estos hallazgos eran compatibles con gliosis y/o desmielinización de la sustancia blanca y necrosis neuronal de la sustancia gris, objetivaciones en probable correlato al profundo retardo sicomotor convulsiones, microcefalia e hipotonía generalizada del niño e interpretado más bien como de tipo secuelar que como otra variante fenotípica de la enfermedad. De allí el acento en señalar la importancia de la alta presunción clínica y de la precocidad del tratamiento inicial sindrómico en la emergencia metabólica (AU)

A quantitative method for evaluating the effects of drugs on bone marrow cellularity using the same experimental animal. Quantification of the effects of a single dose of busulphan.

A method for quantifying the cellularity of rats bone marrow per unit of weight is described. Absolute numbers of each cell type per mg of bone marrow in the left and right femurs of the same experimental animal were determined at different times. In normal rats in which both femurs were studied simultaneously it was found that the absolute counts of each cell type per mg of bone marrow in the left and right femurs did not differ, nor were differences found in absolute numbers of marrow cells when the quantitative analyses from the left femurs were compared with those of the right femurs of the same animal, 10 and 20 days later. In order to test the validity of the present method for evaluating the effects of drugs on hematopoiesis, a single oral dose of busulphan (20 mg/kg), was administered to normal rats immediately after the marrow quantitative studies of the left femurs were performed. A marked and significant reduction in total nucleated cell was seen in marrows from the right femurs, 10 days later. Cellular effects were particularly pronounced on the myeloid line. Results presented here indicate that the quantitative study employed is a simple and useful method to evaluate the effects of drugs on hematopoiesis. The novelty of this method lies in: 1) its expression of cellularity on a per mg marrow basis, thereby avoiding possible misinterpretations of data which occur when results are expressed as percentages and 2) the analysis of contralateral femoral marrow specimens obtained from the same animal before and after drugs treatment. Therefore, each animal acts as its own control avoiding possible errors in the determination of drug-induced hematopoietic changes due to inter-animal variability.

A quantitative method for evaluating the effects of drugs on bone marrow cellularity using the same experimental animal. Quantification of the effects of a single dose of busulphan.

A method for quantifying the cellularity of rats bone marrow per unit of weight is described. Absolute numbers of each cell type per mg of bone marrow in the left and right femurs of the same experimental animal were determined at different times. In normal rats in which both femurs were studied simultaneously it was found that the absolute counts of each cell type per mg of bone marrow in the left and right femurs did not differ, nor were differences found in absolute numbers of marrow cells when the quantitative analyses from the left femurs were compared with those of the right femurs of the same animal, 10 and 20 days later. In order to test the validity of the present method for evaluating the effects of drugs on hematopoiesis, a single oral dose of busulphan (20 mg/kg), was administered to normal rats immediately after the marrow quantitative studies of the left femurs were performed. A marked and significant reduction in total nucleated cell was seen in marrows from the right femurs, 10 days later. Cellular effects were particularly pronounced on the myeloid line. Results presented here indicate that the quantitative study employed is a simple and useful method to evaluate the effects of drugs on hematopoiesis. The novelty of this method lies in: 1) its expression of cellularity on a per mg marrow basis, thereby avoiding possible misinterpretations of data which occur when results are expressed as percentages and 2) the analysis of contralateral femoral marrow specimens obtained from the same animal before and after drugs treatment. Therefore, each animal acts as its own control avoiding possible errors in the determination of drug-induced hematopoietic changes due to inter-animal variability.

Erythropoietic action of dexamethasone on the anemia associated with an experimental chronic renal failure.

Partially nephrectomized anemic uremic rats were injected with dexamethasone phosphate (10, 50 and 500 micrograms/kg/day), i.p., and erythropoietin (5 U/day), s.c., for 10 days. A marked and usually significant stimulatory effect on erythropoiesis was seen in all uremic animals treated. Administration of erythropoietin and dexamethasone produced a pronounced increment in hemoglobin, hematocrit and circulating reticulocytes. The increase in red blood cell production was also evident through the generally increased absolute numbers of nucleated erythroid cell precursors per milligram of bone marrow. The highest increases were seen in the erythropoietin treated uremic rats. A dose effect correlation was apparent in uremic rats receiving 3 different doses of dexamethasone. Dexamethasone may stimulate erythropoiesis in our anemic uremic rats through a previous augmentation of erythropoietin production in the residual renal mass. A synergistic permissive effect of dexamethasone increasing the sensitivity of the erythropoietin-responsive cells to erythropoietin in bone marrow is also quite possible.

Erythropoietic action of dexamethasone on the anemia associated with an experimental chronic renal failure.

Partially nephrectomized anemic uremic rats were injected with dexamethasone phosphate (10, 50 and 500 micrograms/kg/day), i.p., and erythropoietin (5 U/day), s.c., for 10 days. A marked and usually significant stimulatory effect on erythropoiesis was seen in all uremic animals treated. Administration of erythropoietin and dexamethasone produced a pronounced increment in hemoglobin, hematocrit and circulating reticulocytes. The increase in red blood cell production was also evident through the generally increased absolute numbers of nucleated erythroid cell precursors per milligram of bone marrow. The highest increases were seen in the erythropoietin treated uremic rats. A dose effect correlation was apparent in uremic rats receiving 3 different doses of dexamethasone. Dexamethasone may stimulate erythropoiesis in our anemic uremic rats through a previous augmentation of erythropoietin production in the residual renal mass. A synergistic permissive effect of dexamethasone increasing the sensitivity of the erythropoietin-responsive cells to erythropoietin in bone marrow is also quite possible.

Erythropoietic effects of triiodothyronine on the anemia of renal failure in rats: comparative studies with testosterone and erythropoietin.

A pronounced and significant stimulatory effect on erythropoiesis was observed in anemic uremic rats receiving either T3 (50 micrograms/kg/day) or Ep (7.5 and 15 U[units]/day) for ten days. A lack of erythropoietic response was seen after the administration of testosterone (5 mg/kg/day) for the same period of time. Renal failure and anemia were studied in partially nephrectomized rats that had received nephrotoxic doses of kanamycin (500 mg/kg/day). The marked increase in red blood cell production produced by T3 and Ep in anemic uremic rats was evident, not only from increased hemoglobin and hematocrit values in peripheral blood, but also from an elevated number of circulating reticulocytes and generally increased absolute counts of nucleated erythroid cells per milligram of bone marrow. The effects of T3 on erythropoiesis in anemic rats with renal insufficiency are in accordance with our previous report demonstrating the direct effect of thyroid hormones on marrow erythroid precursors. This effect can occur only when high levels of the free active forms of T3 are present in plasma, as can happen in the uremic rats receiving daily doses of T3. Since the possibility of producing large amounts of Ep for the treatment of the anemia associated with chronic renal failure is unlikely in the near future, utilization of T3, mainly compounds without calorigenic effects, may be a potential therapeutic alternative.

Porencephalic congenital cysts with hydrocephalus.

UNLABELLED: The therapeutic criteria according to tomographic findings are reviewed. 10 children, 6 male and 4 female, with porencephalic congenital cysts were studied. Early symptoms began within the first 6 months of life in 9 cases, and at the age of 5 years in 1. The most frequent symptoms were: seizures in 3; motor deficit in 5; retarded psychomotor development in 7; endocranial hypertension syndrome in 7; symmetric macrocrania in 7; paresis of the motor ocular nerves in 4. Preoperative studies: X-ray films-1 each patient-showed diastasis of sutures in 6 and cranial asymmetry in 2. Electroencephalograms-6 patients-were abnormal and diffuse in 3, hipsarrhythmic in 2, and focal in 1. CT-1 each patient-showed porencephalic cysts in all the patients; ventricular dilatation in 9; a single ventricle in 1, and a shift of the midline in 5. Postoperative studies: EEG, 1 each patient; CT, 1 each patient. SURGICAL TREATMENT: 8 patients underwent peritoneal shunts and 2 atrial shunts. Plastic surgery of the dysraphy was also performed. Postsurgical treatment: Rehabilitation and anti-convulsive treatment-4 patients. There were no deaths among the patients. The morbidity improved.