Resultado a largo plazo de una serie de fetos con agenesia aislada del septum pellucidum / Long-term postnatal outcome of fetuses with isolated agenesis of the septum pellucidum

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.

Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.

Diagnóstico neonatal temprano y asintomático de una trombosis cerebral de senos venosos en contexto de displasia septo-óptica / Early diagnosis of asymptomatic cerebral sinovenous thrombosis associated with a septo-optic dysplasia in a newborn

RESUMEN La displasia septo-óptica (DSO) es una entidad que incluye hipoplasia de nervios ópticos, disgenesia de la línea media cerebral y disfunción hipotálamo-hipofisaria. Entre las teorías sobre su patogenia es de resaltar una posible disrupción vascular que altera el desarrollo de las estructuras involucradas. Dado que la (DSO) es una patología infrecuente, se presenta el caso de un recién nacido que desde sus controles prenatales presentó alteraciones anatómicas cerebrales en línea media. Posteriormente al nacimiento se confirmaron las siguientes: ausencia de septum pellucidum, dilatación ventricular supratentorial con sospecha de estenosis acueductal y disgenesia del cuerpo calloso, además de una trombosis de seno venoso. Se resalta la importancia de mostrar la relación de estas dos patologías puesto que solamente encontramos otro caso reportado en la literatura. Igualmente, se destacan herramientas del manejo de trombosis cerebral neonatal. Por último, se resalta la utilidad de los controles prenatales como guía del enfoque rápido para el diagnóstico en este paciente.

SUMMARY The septo-optic dysplasia (SOD) is characterized by a classic triad: optic nerve hypoplasia, dysgenesis of the cerebral midline and hypothalamus-pituitary axis dysfunction, in association, sometimes, with abnormalities in the cerebral cortex. In this article, we report a case of SOD diagnosed in the first days after birth of a patient, in which we incidentally documented a cerebral sinovenous thrombosis in the prenatal check-up exams. In here we try to highlight that the combination of both pathologies is less prevalent, finding in the literature just one case reported. In the other hand, to show the importance of adequate prenatal controls to guide the diagnosis and the management of Neonatal cerebral sinovenous thrombosis.

Importancia de la neuroimagen en la anoftalmia/microftalmia congénita neonatal: a propósito de un caso / Importance of neuroimaging in neonatal congenital anophthalmia/microphthalmia: a case report

Introducción: La Anoftalmia/Microftalmia es una malformación ocular congénita que se caracteriza por la reducción variable del volumen del globo ocular, la misma requiere de estudios imagenológicos para un diagnóstico más preciso. Objetivo: Demostrar la importancia de la neuroimagen en el diagnóstico y orientación de la microftalmia/anoftalmia neonatal congénita bilateral. Presentación del caso: Se hace referencia a un recién nacido con diagnóstico clínico de anoftalmia/microftalmia de manera inicial que después de realizar estudios de neuroimagen se constataron otras malformaciones del sistema nervioso central que permitieron orientar el diagnóstico hacia un síndrome genético definido. Durante el examen físico inicial se constató hipertelorismo, orejas de implantación baja, fisura palatina, ano anterior y ausencia de los globos oculares en ambos lados. La Resonancia magnética nuclear mostró esbozos de cristalinos rudimentarios, ubicados en zona atípica y esbozo de nervio óptico incompleto del lado derecho. No se observaron globos oculares. Observándose además múltiples imágenes de aspecto quístico bilaterales en las áreas orbitarias que desplazan los cristalinos rudimentarios por conflicto de espacio. Este paciente requirió estudios de neuroimagen para determinar si se trataba de una anoftalmia/microftalmia y para orientar el diagnóstico de displasia septo-óptica que organizó el pensamiento clínico hacia un posible Síndrome de Morsier. En este caso se realizó diagnóstico diferencial con otras causas asociadas a estas malformaciones oculares. Conclusiones: Los estudios imagenológicos del cerebro de los pacientes con anoftalmia / microftalmia en la etapa neonatal permiten orientar un diagnóstico preciso y precoz que favorece una intervención multidisciplinaria temprana(AU)

Introduction: Anophthalmia/microphthalmia is a congenital eye malformation that is characterized by the variable reduction of the volume of the ocular globe, which requires imaging studies for a more precise diagnosis. Objective: To demonstrate the importance of neuroimaging in the diagnosis and management of neonatal congenital bilateral anophthalmia/microphthalmia. Case Presentation: We describe the case of a newborn with an initial clinical diagnosis of anophthalmia/microphthalmia in which, after carrying out neuroimaging studies, other malformations of the central nervous system were confirmed, allowing to guide the diagnosis towards a defined genetic syndrome. During the initial physical exam, hypertelorism, low set ears, palatine fissure, anterior anus, and absence of the ocular globes in both sides were verified. The magnetic resonance imaging showed signals of rudimentary crystalline located in an atypical area, and signals of incomplete optic nerve of the right side. Ocular globes were not observed. Multiple cyst-like bilateral images were also observed in orbital areas, displacing the rudimentary crystalline lens due to space limitations. Discussion: This patient required neuroimaging studies to determine if she had an anophthalmia/microphthalmia and present a guide for the diagnosis of septo-optic dysplasia that organized the clinical thinking towards a possible Morsier Syndrome. In this case, a differential diagnosis with other causes associated to these ocular malformations was made. Conclusions: The imaging studies of the brain of the patients with anophthalmia/microphthalmia in the neonatal period allows to guide a precise and early diagnosis that favors an early multidisciplinary intervention(AU)

Knowledge and Practical Attitudes of Surgeons-Dentists of Bamako District Facing the Septum Syndrome

Objective: To determine the knowledge and attitude of dental surgeons in Bamako regarding the management of septal syndromes. Material and Methods: It was a crosssectional and descriptive study conducted in the Bamako District, Mali. The following variables were collected: sociodemographic, training, knowledge of septal syndrome, therapeutic decisions and treatment. The data was collected from a survey sheet and processed by Epi-info Software version 3.5.3 and by the language R. Results: A total of 67 professionals participated in this study, of which 88.1% were men. Seventy-six point one percent of the Dental Surgeons have recognized septum syndrome as an emergency. The management of the emergency, followed by the completion of the comprehensive care later represents the attitude of 71.6% of the dentists. Sixty-four point two percent of dentists remove irritating elements under gingival, 80.6% prescribe an antiinflammatory, 38.8% prescribe chlorhexidine gel and 26.9% reconstruct the point of contact. Conclusion: This study demonstrates that Dental Surgeons in general have adequate average knowledge and attitude for their management of septal syndrome.

Prenatal ultrasonic research of fetal optic chiasma / 中华超声影像学杂志

Objective To research fetal optic nerve,optic chiasma and optic tract size using high resolution prenatal ultrasound,establish a scan method and the reference range of optic nerve,optic chiasma and optic tract in normal fetus.Methods Based on the section of circulus arteriosus cerebri,the probe were rotated to get the chiasma section for measuring the diameter of bilateral optic nerve,optic tract and area of optic chiasma in 453 normal fetus respectively.Used gestation age and corresponding biological parameters as independent variables,the regression equation was established analyse the gender differences.Results 26-33 weeks was the preferable gestational age to visualize the chiasma section.It had good repeatability except chiasma area.The bilateral optic nerve and optic tract diameter,optic chiasma diameter and area had an increased along with the gestational age reposefully.There was no significant difference between the two sides of optic nerve and the gender.Conclusions Prenatal ultrasound can assess the size and shape of fetal optic nerve,optic chiasma and optic tract.The normal reference range,established by ultrasound,is helpful to diagnose the abnormality of optic chiasma.

Embarazo gemelar bicorial, uno con mola completa y el otro con feto vivo con displasia septo-óptica / Bichorial twin pregnancy with one mole complete and the other with alive fetus with septo-optic dysplasia

La gestación gemelar bicorial uno con transformación molar completa y el otro con feto vivo, es un caso extremadamente raro. Se presenta el caso de una paciente de sexo femenino de 24 años de edad, derivada de consulta particular con Diagnostico de Mola Parcial con feto vivo de 16 semanas. Los nuevos estudios determinan que se trata de embarazo gemelar bicorial uno con mola completa y el otro con feto vivo Displasia Septo-óptica. Se realizó cariotipo por amniocentesis a las 16 semanas cuyo resultado informa: feto Masculino 46 XY. Se determinó realizar control estricto del embarazo. A las 32 semanas de gestación, la paciente presenta rotura prematura de membranas; se concluye el embarazo tras la maduración pulmonar, obteniéndose recién nacido peso 1350 grs, APGAR 8 -9. La paciente tuvo evolución favorable y alta médica con controles y seguimiento por consulta externa, sin datos clínicos o bioquímicos de persistencia o recurrencia. El estudio de imágenes posnatal del neonato confirma el diagnóstico prenatal. El niño cursa actualmente con 23 meses de vida, fenotípicamente normal, no demostrándose alteraciones psicomotrices hasta el momento.

Bichorial twin pregnancy with one molar transformation and the other with alive fetus is an extremely rare case. The case of a female patient of 24 years, derived from private practice with a diagnosis of Partial Mola with alive fetus 16 weeks. A new study finds that pregnancy is bichorial twin pregnancy with complete mole and alive fetus with Septo-optict dysplasia. The genetic diagnosis was made by amniocentesis informing: karyotype 46, XY male fetus. It was decided to carry out strict control of pregnancy. At 32 weeks gestation, the patient has spontaneous rupture of the fetal membranes. Pregnancy is concluded after administration of corticosteroids to induce pulmonary maduration; obtaining newborn with 1350 grs at birth, the APGAR score was 8 - 9. The patient had a favorable evolution, without clinical or biochemical evidence of recurrence or persistence. Postnatal study confirms prenatal diagnosis The infant has at the moment 23 months of life, not demonstrating psychomotor disturbances.

Measurement of fetal optic tract diameters with three-dimensional ultrasound / 中国医师杂志

Objectives To construct reference range of fetal optic tract mean diameter and to report the measured optic tract mean diameter in fetuses with agenesis of the septum pellucidum (SP).Methods Three-dimensional volumes of the optic chiasm were acquired in 254 normal fetuses during routine sonographic examination at 21 ～ 40 weeks' gestation and the diameters of posterior left and right optic tracts were measured offline.A polynomial regression approach was used to calculate reference charts for the fetal optic tract mean diameter.In addition,16 three-dimensional volumes were acquired in fetuses with SP agenesis for offline measurement of optic tract diameter.The complete follow-up data were obtained in 7 of these 16 cases.Results In normal fetuses,the optic tract diameter increased linearly throughout gestation.Normal charts and equations were constructed.Among 7 fetuses with SP agenesis and complete follow-up,one had postnatal normal vision,two had hypoplastic optic tract,and four underwent termination of pregnancy.Three cases of normal childbirth were tested after the baby was born as a bundle of apparent dysplasia,including 1 case of neonatal characterized by lack of vision at the one year old and 2 cases of impaired vision.Four cases of termination of pregnancy included 1 case with tracking pathological confirmation of optic nerve hypoplasia,and the other 3 cases without tracking the pathological results.Conclusions We present new reference charts for fetal optic tract mean diameter.In fetuses with agenesis of the SP,sonography of the optic tract might be a useful tool to assess its development and may help prenatal counseling.

A Case of Septo-Optic Dysplasia Resulting in Central Diabetes Insipidus and Nonobstructive Bilateral Hydronephrosis / 대한내과학회지

A 27-year-old male with nonobstructive hydronephrosis was referred from the urology department for polyuria evaluation and management. The patient was hospitalized for urinary tract infection and cystostomy was performed due to neurogenic bladder of unknown origin. The patient was of short stature and had visual impairment. From the interview, we discovered he had been suffering from polyuria and polydipsia for more than 20 years. Urine output was 13 L/day and urine osmolarity was 85 mOsm/kg. The results of a water deprivation test were consistent with central diabetes insipidus. Septo-optic dysplasia (SOD) was observed on brain magnetic resonance imaging (MRI). SOD is a very rare condition characterized by agenesis of the septum pellucidum or corpus callosum, which may cause optic nerve aplasia or hypoplasia, midbrain abnormalities and/or hypopituitarism. After desmopressin treatment, polyuria and hydronephrosis were improved. We report a case of a 27-year-old male diagnosed with SOD including diabetes insipidus, resulting in nonobstructive hydronephrosis.

Displasia septo-optica. Evaluación clínica, endocrinológica y neuro-radiológica. Seguimiento de 46 pacientes pediátricos / Septo-optic dysplasia. Clinical, endocrinological, and neuroradiological evaluation. Follow-up of 46 pediatric patients

La displasia septo-óptica (DSO) es una condición rara y altamente heterogénea, definida por la combinación de hipoplasia del nervio óptico (HNO), malformaciones cerebrales de la línea media, tales como aplasia/hipoplasia de septum pellucidum y cuerpo calloso, e insuficiencia hipotálamo-hipofisaria de grado variable. Se realizó un trabajo que tuvo como objetivo caracterizar la población de pacientes con diagnóstico de DSO seguidos en nuestro Hospital durante 7 años. Se incluyeron 46 pacientes (18 mujeres) que fueron divididos en 2 grupos, según tuviesen o no insuficiencia hipotálamo-hipofisaria (IHH). El 58.7% (n=27) presentó IHH de algún tipo, mientras que el 41.3% (n=19) no la presentó. En aquellos 19 pacientes con IHH se diagnosticaron deficiencia de GH y TSH (85.1%) y de ACTH (48.1%). La longitud corporal (mediana) del grupo con IHH fue más baja (p = 0,01) que la del grupo sin IHH, a pesar de que la edad fue menor a 2 años en todos los casos. Los pacientes fueron seguidos 1,3-8,3 años. Se observaron incidencias similares de agenesia del cuerpo calloso, del septum pellucidum, y ventriculomegalia, pero las alteraciones del desarrollo cortical se observaron con mayor frecuencia en los pacientes sin IHH. La ictericia neonatal, convulsiones y/o hipoglucemia, y micropene en neonatos y lactantes con DSO se presentaron en el subgrupo con IHH. El 58,7% de los pacientes con DSO presentaron algún grado de insuficiencia hipotálamo-hipofisaria. En la mayoría de los casos el diagnóstico de IHH no se realizó en el momento de aparición de los síntomas, sino más tardíamente en su seguimiento. En el 45% de los pacientes se evaluaron alteraciones radiológicas del SNC, específicamente en la región hipofisaria. Una fracción importante de las deficiencias de TSH/T4 (36,4%), GH (50%) y ACTH (23%) aparecieron mas tardíamente en el curso de la evolución. En 10 niños con déficit de hormona de crecimiento (2 tests farmacológicos sin respuesta) se realizó el tratamiento sustitutivo con rhGH (durante un periodo de 4±3 años), observándose una mejoría promedio de + 1,5 SDS en la talla de estos pacientes. En conclusión, la hipoplasia neonatal de nervios ópticos, asociada o no a ictericia e hipoglucemia, debe ser un signo de alarma para el diagnóstico de DSO, con riesgo de insuficiencia suprarrenal, shock y muerte, y puede requerir, por lo tanto, urgente tratamiento. Las deficiencias pueden aparecer en el curso de la evolución, a pesar del carácter congénito de la anomalía. Finalmente, se deben sustituir las deficiencias hormonales y tener presente que el tratamiento con rhGH puede mejorar la talla final en estos pacientes (AU)

Septo-optic dysplasia (SOD) is a rare and highly heterogeneous condition consisting of a combination of optic nerve hypoplasia (ONH), midline brain abnormalities, such as aplasia/hypoplasia of the septum pellucidum (ASP) and corpus callosum; and variable degree of hypoyalamo-pituitary insufficiency. The aim of this study was to characterize a population of SOD patients diagnosed and followed at the Garrahan Pediatric Hospital, from 1989 to 2006. We included 46 patients (18 females), that were divided into two groups according to the presence or absence of hypothalamic-pituitary insufficiency (IHH). Fifty nine% of SOD patients presented with IHH. GH and TSH deficiencies were diagnosed in 85.1% of IHH patients, while ACTH deficiency was found in 48.1%. Height (median) for the IHH group was shorter (p = 0,01) than for the group without IHH. Patients were followed for 1.3-8.3 years. Similar incidence of corpus callosum and/or septum pellucidum agenesis and ventriculomegaly were found in the two groups, but we observed more association with cortical developmental disorders in patients without IHH. In newborns, the association of ophthalmologic disorders and jaundice, seizures and/or hypoglycemia and micropene should frequently lead to the diagnosis of SOD and IHH. While 58,7% of DSO patients presented with hypothalamic-pituitary deficiency, only 45% of them showed sellar radiological abnormalities. Although SOD is a congenital disease, hormonal deficiencies may appear during follow-up. In 10 children with SOD and GH deficiency, rhGh treatment (for 4±3 years) improved height in 1.5 SDSs. In conclusion: in newborns with nerve optic hypoplasia, associated or not with jaundice, seizures and hypoglycaemia, the diagnosis of SOD and IHH should be considered. Treatment could be an emergency need because of risk of adrenal insufficiency and hypoglycemia (AU)

Septo-optic dysplasia / Displasia septo-óptica

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.

A displasia septo-óptica (DSO, síndrome de Morsier) é uma condição congênita rara definida por dois critérios da tríade: defeitos de linha média, hipoplasia de nervo óptico e insuficiência hipotálamo-hipofisária. Descrevemos 5 casos de DSO, encaminhados por baixa estatura, com hipoplasia dos nervos ópticos, nistagmo e atraso global do desenvolvimento. Destes, 4 possuem alteração na ressonância magnética de sela túrcica e insuficiência hipotálamo-hipofisária, tendo sido observada adeno-hipófise hipoplásica (3/5), neuro-hipófise ectópica (4/5), haste afilada/ausente (3/5) e sela vazia (1/5), além de déficit dos eixos somatotrófico (3/5), adrenocorticotrófico (3/5), tireotrófico (2/5) e do hormônio antidiurético (1/5). Apenas um paciente não apresenta alteração anatômica ou funcional do eixo hipotálamo-hipofisário. Embora rara, a DSO é causa importante de hipopituitarismo congênito, devendo ser considerada em crianças com hipoplasia de nervo óptico ou defeito de linha média para seu diagnóstico e tratamento precoces, evitando seqüelas graves.

Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency / Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária

OBJECTIVE: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. SUBJECTS AND METHODS: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. RESULTS: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. CONCLUSION: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.

OBJETIVO: O presente estudo teve como objetivo avaliar os genes PROP1 e HESX1 em um grupo de pacientes com displasia septo-óptica (DSO) e deficiência hormonal hipofisária (combinada - DHHC; ou deficiência isolada de GH - DGH). Onze pacientes com apresentação clínica e bioquímica consistente com DHHC, DGH ou DSO foram avaliados. SUBJECTS AND METHODS: Em todos os pacientes, o gene HESX1 foi analisado pelo sequenciamento direto e, nos casos de DHHC, o gene PROP1 foi também sequenciado. RESULTADOS: Um polimorfismo no gene HESX1 (1772 A > G; N125S) foi identificado em um paciente com DSO. Foram encontrados três pacientes portadores da variação alélica 27 T > C; A9A e 59 A > G; N20S no éxon 1 do gene PROP1. Mutações no gene PROP1 e HESX1 não foram identificadas nesses pacientes com DGH, DHHC e DSO esporádicos. CONCLUSÃO: Alterações genéticas em um ou diversos outros genes ou mecanismos não genéticos devem estar implicados nesse processo patogênico.

A Neonatal Case of Septo-Optic Dysplasia with Schizencephaly

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT: Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones. Epileptic generalized seizures began at 12 months and were controlled with phenobarbital. EEG was normal. MRI revealed agenesis of the pituitary stalk, hypoplasia of the optic chiasm and periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia. CONCLUSION: The relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until 2006.

INTRODUÇÃO: Displasia septo-óptica (síndrome de De Morsier) é definida como a associação entre hipoplasia do nervo óptico, malformações de linha média do sistema nervoso central e disfunção pituitária. RELATO DE CASO: Terceiro filho, pais não consangüíneos, sexo feminino, pré-natal adequado, parto cesário a termo por apresentação pélvica, Apgar 3 no primeiro minuto e 8 no quinto minuto, hipoglicemia sintomática com 18 horas de vida. Durante o acompanhamento neurológico identificou-se atraso na aquisição dos marcos de desenvolvimento motor e linguagem. Crises epilépticas generalizadas iniciaram com 12 meses de vida sendo controladas com fenobarbital. EEG era normal. Ressonância magnética revelou agenesia de haste pituitária, hipoplasia de quiasma óptico e heterotopia nodular periventricular. Avaliação oftalmológica demonstrou hipoplasia bilateral de disco óptico. Investigação da função endócrina revelou hipotireoidismo primário e hiperprolactinemia. CONCLUSÃO: A relevância deste relato reside em seu ineditismo, já que heterotopia periventricular não havia sido descrita em associação com displasia septo-óptica até 2006.

Clinical Manifestations of Optic Nerve Hypoplasia

PURPOSE: To estimate the baseline demographic and ocular characteristics of patients with optic nerve hypoplasia (ONH), and to analyze the different features and frequency of coexistent CNS abnormalities and pituitary hormone deficiency. METHODS: The authors reviewed the medical records of the patients who were seen between January 1988 and July 2005. Eyes with disc-to-macula / disc diameter ratio of 3.0 or more were eligible. The study comprised 70 patients (45 male, 25 female) and the average age was 6.4 years. RESULTS: Ocular manifestations included strabismus and nystagmus in 60 patients (85.7%) and 23 patients (32.9%), respectively. Eighty-four patients (87.5%) had visual acuity of 0.3 or less. Neuroradiologic examination of 27 patients revealed two with septo-optic dysplasia, two with pituitary hypoplasia, one with an absence of corpus callosum, one with diffuse encephalomalacia, one with a cerebral infarction in the right cerebral hemisphere, and one with a cerebellar injury. Of 12 patients who had undergone a clinical laboratory test, two had isolated growth hormone deficiency, one had a combined deficiency of growth hormone and gonadotropin and one had a combined deficiency of growth hormone and thyrotropin. CONCLUSIONS: Ocular features frequently associated with ONH are strabismus, nystagmus and poor vision. ONH is often associated with a wide variety of central nervous system abnormalities and pituitary hormone defect, so a systematic approach to patients with ONH is always recommended.

A Case of Septo-Optic Dysplasia / 대한소아신경학회지

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.

A Case of Septo-Optic Dysplasia

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly involving optic nerve hypolasia, midline anomalies of the brain and variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 56-day old male infant who presented with prolonged jaundice. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the ophthalmoscopic examination disclosed left optic nerve hypoplasia. Thus, we reported it with a brief review of literatures.

A Case of Septo-Optic Dysplasia

Septo-optic dysplasia, named by de Morsier in 1956, includes absence of the septum pellucidum, partial or complete agenesis of the corpus callosum, dysplasia of the anterior third ventricle, and bilateral optic nerve hypoplasia. Associated ophthalmologic disorders are nystagmus, poor vIsion, visualfield defect, astigmatism and optic nerve hyopolasia. The authors experienced a case of septo-optic dysplasia which was confirmed by MRI in 30-year-old male.

A Case of Septo-Optic Dysplasia

Septo-optic dysplasia, named by de Morsier in 1956, includes absence of the septum pellucidum, partial or complete agenesis of the corpus callosum, dysplasia of the anterior third ventricle, and bilateral optic nerve hypoplasia. Associated ophthalmologic disorders are nystagmus, poor vIsion, visualfield defect, astigmatism and optic nerve hyopolasia. The authors experienced a case of septo-optic dysplasia which was confirmed by MRI in 30-year-old male.

Septo-optic dysplasia

Septo-optic dysplasia, first described by de Morsier in 1956, is an uncommon congenital midline structural abnormality of the brain, including agenesis of septum pellucidum, primitive optic ventricle and dysplasia of the optic chiasm, optic nerves, and infundibulum. Agenesis of septum pellucidum, initially thought to be an integral part of this syndrome, is inconstant and not an essential part of the disorder. Also, it reveals a variable spectrum of associated abnormalities in disturbed hypothalamic-pituitary function. We recently experienced 3 patients of septo-optic dysplasia who showed bilateral optic disc hypoplasia clinically and midline structural abnormalities in computerized tomography(CT) or magnetic resonance imaging(MRI).

A Case of Septo-Optic Dysplasia

The association of abnormalities of the optic nerves, optic chiasm, and optic tracts with anomalies of the midline structures in the brain-an absent septum pellucidum etc was reported and called "septo-optic dysplasia". Also, it was noted that septo-optic dysplasia could be associated with hypopituitary dwarfism. It occurs more commonly in first born children and children born to young or diabetic mothers. We report a case of septo-optic dysplasia with literature, who had complained of severe visual impairment associated with nystagmus, bilateral optic nerve hypoplasia, absent septum pellucidum, and normal range of hormone studies.