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[Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]
Abstract
Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others.
We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred.
From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features.
Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.
... 18,22,25,26,50 La RMN es de gran valor en el diagnóstico de las alteraciones en la forma y el tamaño de la glándula hipófisis, en la adenohipófisis y en la neurohipófisis. 12 Se han verificado en estos enfermos además de la agenesia del septum pellucidum, otros hallazgos como: cavum del septum pellucidum 39 o una hipoplasia del septum, 8 ausencia o hipoplasia del cuerpo calloso, aplasia del fornix 12,35,39,51,52 silla turca vacía con ectopia de la hipófisis o sin ésta, 39,47,51 hipoplasia del cerebelo, agenesia del vermis, fusión de los núcleos dentados y los hemisferios cerebelosos, 18,39,53 hidrocefalia y poroencefalia 18,31 y trastornos de la migración neuronal. 49 Todas estas alteraciones estructurales son la expresión de la afectación de la línea media cerebral que ocurre en la DSO, e incluso los estudios anatomopatológicos 53 no han sido suficientes para demostrar que no existe una anomalía estructural en aquellos pacientes en los cuales se ha hallado un TAC normal 25 con RMN normal, en la que sólo no se puede observar la glándula hipófisis. ...
... 18,22,25,26,50 La RMN es de gran valor en el diagnóstico de las alteraciones en la forma y el tamaño de la glándula hipófisis, en la adenohipófisis y en la neurohipófisis. 12 Se han verificado en estos enfermos además de la agenesia del septum pellucidum, otros hallazgos como: cavum del septum pellucidum 39 o una hipoplasia del septum, 8 ausencia o hipoplasia del cuerpo calloso, aplasia del fornix 12,35,39,51,52 silla turca vacía con ectopia de la hipófisis o sin ésta, 39,47,51 hipoplasia del cerebelo, agenesia del vermis, fusión de los núcleos dentados y los hemisferios cerebelosos, 18,39,53 hidrocefalia y poroencefalia 18,31 y trastornos de la migración neuronal. 49 Todas estas alteraciones estructurales son la expresión de la afectación de la línea media cerebral que ocurre en la DSO, e incluso los estudios anatomopatológicos 53 no han sido suficientes para demostrar que no existe una anomalía estructural en aquellos pacientes en los cuales se ha hallado un TAC normal 25 con RMN normal, en la que sólo no se puede observar la glándula hipófisis. ...
RESUMEN La displasia septo-óptica (DSO) o síndrome DeMorsier es un cuadro congénito de presentación poco frecuente, constituido por hipoplasia de 1 o más frecuentemente, de ambos nervios ópticos, ausencia de septum pellucidum y deficiencias hormonales. Se presenta una lactante de 6 meses de edad que es atendida porque la niña no mostraba interés visual y no sostenía la cabeza. Durante el embarazo su mamá tenía bajo peso corporal y padeció de infección urinaria en el último trimestre del embarazo. Durante los 2 primeros meses de vida presentó fiebre de hasta 38 °C sin que se pudiera identificar un proceso infeccioso como causante. En su examen neurológico se halló hipotonia generalizada de predominio axial con reflejos osteotendinosos presentes, nistagmus horizontal, estrabismo convergente, ausencia de reflejo visuopalpebral y en el fondo de ojo bilateralmente papilas muy pequeñas con imagen de doble contorno. El ultrasonido cerebral y la tomografía axial computadorizada (TAC) mostraron ausencia del septum pellucidum. La edad ósea se correspondió con 4 meses y se encontró deficiencia de la hormona del crecimiento con valores de 4 ng/L. Las manifestaciones clínicas de esta paciente se corresponden con la triada clásica del síndrome DeMorsier; hipoplasia del nervio óptico, agenesia del septum pellucidum y deficiencias hormonales, en este caso de hormona del crecimiento. Se presenta una actualización de esta enfermedad poco frecuente. Descriptores DeCS: ENFERMEDADES DEL NERVIO OPTICO; SEPTUM PELLUCIDUM; LACTANTE; NISTAGMO; ESOTROPIA; SOMATROPINA/ deficiencia.
... 18,22,25,26,50 La RMN es de gran valor en el diagnóstico de las alteraciones en la forma y el tamaño de la glándula hipófisis, en la adenohipófisis y en la neurohipófisis. 12 Se han verificado en estos enfermos además de la agenesia del septum pellucidum, otros hallazgos como: cavum del septum pellucidum 39 o una hipoplasia del septum, 8 ausencia o hipoplasia del cuerpo calloso, aplasia del fornix 12,35,39,51,52 silla turca vacía con ectopia de la hipófisis o sin ésta, 39,47,51 hipoplasia del cerebelo, agenesia del vermis, fusión de los núcleos dentados y los hemisferios cerebelosos, 18,39,53 hidrocefalia y poroencefalia 18,31 y trastornos de la migración neuronal. 49 Todas estas alteraciones estructurales son la expresión de la afectación de la línea media cerebral que ocurre en la DSO, e incluso los estudios anatomopatológicos 53 no han sido suficientes para demostrar que no existe una anomalía estructural en aquellos pacientes en los cuales se ha hallado un TAC normal 25 con RMN normal, en la que sólo no se puede observar la glándula hipófisis. ...
... 18,22,25,26,50 La RMN es de gran valor en el diagnóstico de las alteraciones en la forma y el tamaño de la glándula hipófisis, en la adenohipófisis y en la neurohipófisis. 12 Se han verificado en estos enfermos además de la agenesia del septum pellucidum, otros hallazgos como: cavum del septum pellucidum 39 o una hipoplasia del septum, 8 ausencia o hipoplasia del cuerpo calloso, aplasia del fornix 12,35,39,51,52 silla turca vacía con ectopia de la hipófisis o sin ésta, 39,47,51 hipoplasia del cerebelo, agenesia del vermis, fusión de los núcleos dentados y los hemisferios cerebelosos, 18,39,53 hidrocefalia y poroencefalia 18,31 y trastornos de la migración neuronal. 49 Todas estas alteraciones estructurales son la expresión de la afectación de la línea media cerebral que ocurre en la DSO, e incluso los estudios anatomopatológicos 53 no han sido suficientes para demostrar que no existe una anomalía estructural en aquellos pacientes en los cuales se ha hallado un TAC normal 25 con RMN normal, en la que sólo no se puede observar la glándula hipófisis. ...
The septo-optic dysplasia or DeMorsier's syndrome is a rare congenital disease consisting in hypoplasia of one or more frequently of both optic nerves, absence of septum pellucidum and hormone deficiencies. Clinical case: A female infant of 6 months of age receives attention because the girl had no visual interest and was not able to hold up her head. Her mother had low body weight and suffered from urinary infection in the last trimester of pregnancy. During the first 2 months of life she had fever of up to 38°C and it was not possible to identify any infectious process as its cause. Generalized hypotonia of axial predominance with osteotendinous reflexes, horizontal nystagmus, convergent strabismus, absence of visuopalpebral reflex and, bilaterally, in the fundus of the eye small papillae with double contour image. The cerebral ultrasound and the computerized axial tomography (CAT) showed absence of the septum pellucidum. The osteal age corresponded with 4 months and it was found a deficiency of the growth hormone with values of 4 ng/L. The clinical manifestations of this patient matched with the classic triad of DeMorsier's syndrome, hypoplasia of the optic nerve, agenesia of the septum pellucidum and hormone deficiencies, in this case of the growth hormone.An updating of this rare disease is presented.
Septo-optic dysplasia (SOD) consists of congenital hypoplasia of the optic nerves and alterations of mid-line brain structures, specifically the absence of septum pellucidum in 50% of patients, and hypothalamic-pituitary dysfunctions in 30-80%. Usually endocrinological deficiencies are detected in the first few years of life, and the most frequently found abnormalities are growth hormone deficiency, hypothyroidism, hypogonadism and diabetes insipidus, and less frequently adrenal insufficiency and precocious puberty. We report a man with SOD who was diagnosed with hypothyroidism and cortisol deficiency at 15 years and who had recurrent fever without evident infectious origin associated with adrenal crises during the course of this disease. We review the literature and discuss thermoregulatory disturbances as factors involved in the origin of fever. The need for urgent treatment of episodes of fever to avoid fatal outcomes is also discussed.
Introduction: Septo-optic dysplasia is a congenital disease characterized by hypoplasia of one or both optic nerves accompanied by cerebral malformations of the midline and hypothalamic-pituitary dysfunction. Objective: to present an illustrative case of a patient with anophthalmia and delayed psychomotor development, with emphasis on the differential diagnosis. Case: A female 18 month old infant with bilateral anophthalmia associated with absence of the development of the optic nerves and hypoplasia of the septum pellucidum, confirmed by CT, and with a normal kariotype. Conclusion: An extreme sporadic De Morsier syndrome case with septo-optic dysplasia without neurological or endocrine manifestations.
Septo-optic dysplasia (SOD) consists of congenital hypoplasia of the optic nerves and alterations of mid-line brain structures, specifically the absence of septum pellucidum in 50% of patients, and hypothalamic-pituitary dysfunctions in 30-80%. Usually endocrinological deficiencies are detected in the first few years of life, and the most frequently found abnormalities are growth hormone deficiency, hypothyroidism, hypogonadism and diabetes insipidus, and less frequently adrenal insufficiency and precocious puberty. We report a man with SOD who was diagnosed with hypothyroidism and cortisol deficiency at 15 years and who had recurrent fever without evident infectious origin associated with adrenal crises during the course of this disease. We review the literature and discuss thermoregulatory disturbances as factors involved in the origin of fever. The need for urgent treatment of episodes of fever to avoid fatal outcomes is also discussed.
We have suggested that ‘idiopathic” hypopitutiaty dwarfism (IHP) is a heterogenous disorder of disparate pathogenesis [New Engl. J. Med. 278: 54, 1968]. Among a group of 36 children with sporadic IHP (16 isolated GH and 20 multiple pituitaru deficiencies) in whom mass lesions were excluded, 6 patients (3F, 3M) had a distinctive clinical entity of dwarfism, opticnerve dysplasia, and midline abnormalities of the prosencephalon. The findings included: congential diabetes insipidus in 2; bilateral hypoplasia of optic nerves with small optic discs in 6; pendular, dysjunctive nystagmus in 5; bilateral amblyopia in 3; inconstant, irregular field defects in 5; and documented growth hormone deficiency in 6 with multiple tropic hormone deficencies in 4/6. In 3 of 4 pateints, in whom a PEG was performed, absence of septum pellucidum, thin optic nerves and chiasm, abnormal fornices, irregular lamina terminalis, and an a abnormally shaped 3rd ventricle with small inferior pointing diverticulum from the optic recess were demonstrable. The sella turcica and suprasellar cistern were noted in 2 of 4 patients tested; I. Q. was normal or mildly subnormal in 6. No evidenve of ocular abnormalities of dwarfism was noted in the parents of sibs of the 6 patients. Hence, sporadic hypopituitary dwarfism is not uncommonly associated with a characteristic congenital malformation of the prosencephalon. The hypopitutiarism is ascribable to a diencephalic defect which results in deficiency of hypothalaminc hypophysiotropic factors and in some cases vasopressin.