Utilidad del complejo posterior para el diagnóstico prenatal de sintelencefalia / Utility of the posterior complex for the prenatal diagnosis of syntelencephaly

Introducción y objetivo: Demostrar el valor del plano axial del complejo posterior, como apoyo a la detección antenatal de sintelencefalia, variante de holoprosencefalia. Método: Se incluyeron todas las pacientes con diagnóstico de sintelencefalia evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de neurosonografía (NSG), de resonancia magnética (RM) y genética. Resultados: Cuatro casos fueron diagnosticados en el segundo trimestre y en todos se realizó estudio genético y RM. Tres tuvieron en su evolución anomalías extra-SNC y dos de ellos alteraciones cromosómicas, una de ellas incompatible con la vida extrauterina. Lo hallazgos descritos en neuroimagen para esta afección fueron detectados en la NSG, con una excelente correlación con RM, ya fuera esta última realizada en periodo fetal o posnatal. Conclusión: El diagnóstico prenatal de variantes de holoprosencefalia es difícil, considerando la existencia de una fusión medial más acotada que en las formas clásicas. El presente estudio demuestra la utilidad del plano del complejo posterior para la sospecha diagnóstica de sintelencefalia.

Introduction and objective: To demonstrate the value of the axial plane of the posterior complex, as a clue for the antenatal detection of synthelencephaly, a variant of holoprosencephaly. Method: All patients diagnosed with syntelencephaly evaluated since 2008 were included. In all cases, clinical, neurosonography (NSG), magnetic resonance imaging (MRI) and genetic data were recorded. Results: Four cases were diagnosed in the second trimester and in all of them a genetic study and MRI were performed. Three had extra-CNS anomalies in their evolution and two of them chromosomal anomalies, one of them incompatible with extrauterine life. Neuroimaging findings described for this condition were detected by NSG, with an excellent correlation with MRI, whether the latter was performed in the fetal or postnatal period. Conclusion: The prenatal diagnosis of holoprosencephaly variants is difficult, considering the existence of a more limited medial fusion than in the classical forms. The present study demonstrates the usefulness of the posterior complex plane for the diagnostic suspicion of synthelencephaly.

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.

Risk Factors and Preoperative Risk Scoring System for Shunt-Dependent Hydrocephalus Following Aneurysmal Subarachnoid Hemorrhage

OBJECTIVE: Shunt-dependent hydrocephalus (SdHCP) is a well-known complication of aneurysmal subarachnoid hemorrhage (SAH). The risk factors for SdHCP have been widely investigated, but few risk scoring systems have been established to predict SdHCP. This study was performed to investigate the risk factors for SdHCP and devise a risk scoring system for use before aneurysm obliteration.METHODS: We reviewed the data of 301 consecutive patients who underwent aneurysm obliteration following SAH from September 2007 to December 2016. The exclusion criteria for this study were previous aneurysm obliteration, previous major cerebral infarction, the presence of a cavum septum pellucidum, a midline shift of >10 mm on initial computed tomography (CT), and in-hospital mortality. We finally recruited 254 patients and analyzed the following data according to the presence or absence of SdHCP : age, sex, history of hypertension and diabetes mellitus, Hunt-Hess grade, Fisher grade, aneurysm size and location, type of treatment, bicaudate index on initial CT, intraventricular hemorrhage, cerebrospinal fluid drainage, vasospasm, and modified Rankin scale score at discharge.RESULTS: In the multivariate analysis, acute HCP (bicaudate index of ≥0.2) (odds ratio [OR], 6.749; 95% confidence interval [CI], 2.843–16.021; p=0.000), Fisher grade of 4 (OR, 4.108; 95% CI, 1.044–16.169; p=0.043), and an age of ≥50 years (OR, 3.938; 95% CI, 1.375–11.275; p=0.011) were significantly associated with the occurrence of SdHCP. The risk scoring system using above parameters of acute HCP, Fisher grade, and age (AFA score) assigned 1 point to each (total score of 0–3 points). SdHCP occurred in 4.3% of patients with a score of 0, 8.5% with a score of 1, 25.5% with a score of 2, and 61.7% with a score of 3 (p=0.000). In the receiver operating characteristic curve analysis, the area under the curve (AUC) for the risk scoring system was 0.820 (p=0.080; 95% CI, 0.750–0.890). In the internal validation of the risk scoring system, the score reliably predicted SdHCP (AUC, 0.895; p=0.000; 95% CI, 0.847–0.943).CONCLUSION: Our results suggest that the herein-described AFA score is a useful tool for predicting SdHCP before aneurysm obliteration. Prospective validation is needed.

Outcome of Neonates with Agenesis of Septum Pellucidum: A Retrospective Single Center Study

PURPOSE: Agenesis of the septum pellucidum (ASP) is a very rare disease that can be isolated or associated with other brain abnormalities. The neurological prognosis of isolated ASP remains controversial. The aim of this study was to evaluate the clinical outcome of neonates with ASP. METHODS: We retrospectively analyzed the medical records of 12 neonates with isolated ASP or ASP combined with other brain abnormalities who were born at Cheil General Hospital & Women's Healthcare Center between January 2007 and December 2017. RESULTS: Of the 12 neonates, six were identified prenatally and six were identified postnatally. Isolated ASP was found in eight neonates; of these, four were detected antenatally. ASP associated with other brain abnormalities was found in four neonates. ASP was complete in nine neonates, including six with isolated ASP, and partial in three, including two with isolated ASP. Six of the eight neonates with isolated ASP had normal neurological development, except two who were lost to follow-up. Among the four neonates with other associated brain abnormalities, two had delayed motor development and a seizure, one had normal development, and one was lost to follow-up. In all neonates, ophthalmological examination revealed no optic nerve abnormalities. CONCLUSION: Isolated ASP seems to have a good neurological prognosis without ocular problems. This result needs to be confirmed by larger prospective studies over a longer developmental timeline.

Risk Factors and Preoperative Risk Scoring System for Shunt-Dependent Hydrocephalus Following Aneurysmal Subarachnoid Hemorrhage

OBJECTIVE: Shunt-dependent hydrocephalus (SdHCP) is a well-known complication of aneurysmal subarachnoid hemorrhage (SAH). The risk factors for SdHCP have been widely investigated, but few risk scoring systems have been established to predict SdHCP. This study was performed to investigate the risk factors for SdHCP and devise a risk scoring system for use before aneurysm obliteration. METHODS: We reviewed the data of 301 consecutive patients who underwent aneurysm obliteration following SAH from September 2007 to December 2016. The exclusion criteria for this study were previous aneurysm obliteration, previous major cerebral infarction, the presence of a cavum septum pellucidum, a midline shift of >10 mm on initial computed tomography (CT), and in-hospital mortality. We finally recruited 254 patients and analyzed the following data according to the presence or absence of SdHCP : age, sex, history of hypertension and diabetes mellitus, Hunt-Hess grade, Fisher grade, aneurysm size and location, type of treatment, bicaudate index on initial CT, intraventricular hemorrhage, cerebrospinal fluid drainage, vasospasm, and modified Rankin scale score at discharge. RESULTS: In the multivariate analysis, acute HCP (bicaudate index of ≥0.2) (odds ratio [OR], 6.749; 95% confidence interval [CI], 2.843–16.021; p=0.000), Fisher grade of 4 (OR, 4.108; 95% CI, 1.044–16.169; p=0.043), and an age of ≥50 years (OR, 3.938; 95% CI, 1.375–11.275; p=0.011) were significantly associated with the occurrence of SdHCP. The risk scoring system using above parameters of acute HCP, Fisher grade, and age (AFA score) assigned 1 point to each (total score of 0–3 points). SdHCP occurred in 4.3% of patients with a score of 0, 8.5% with a score of 1, 25.5% with a score of 2, and 61.7% with a score of 3 (p=0.000). In the receiver operating characteristic curve analysis, the area under the curve (AUC) for the risk scoring system was 0.820 (p=0.080; 95% CI, 0.750–0.890). In the internal validation of the risk scoring system, the score reliably predicted SdHCP (AUC, 0.895; p=0.000; 95% CI, 0.847–0.943). CONCLUSION: Our results suggest that the herein-described AFA score is a useful tool for predicting SdHCP before aneurysm obliteration. Prospective validation is needed.

Variantes anatómicas del septum pellucidum / Anatomical variations of septum pellucidum

El septum pellucidum es un fino tabique formado por dos láminas gliales dispuestas entre el cuerpo calloso en dirección cefálica y el trígono ubicado caudalmente. Durante la vida embrionaria existen variantes anatómicas del septum pellucidum que se disponen en sentido rostro-dorsal. Estas son el cavum del septum pellucidum, el cavum vergae yel cavum velum interpositum. Su presencia o ausencia puede estar relacionada con alteraciones del desarrollo del sistema nervioso y trastornos cognitivo-psiquiátricos, por lo que deben conocerse bien para evitar diagnósticos erróneos

Septum pellucidum consists of a two thin laminae situated caudal to the corpus callosum and cephalic to the fornix (trigonum). Anatomical variations of septum pellucidum appear during fetal life in the ventro-dorsal position. These variations are: cavum septi pellucidi, cavum vergae and cavum veli interpositi. The presence or absence of these cavities can be related to the presence of nervous system or neuropsychiatric dysfunction, therefore they have to be well known to avoid a wrong diagnoses

Isolated Supratentorial Intraventricular Recurrence of Medulloblastoma

Medulloblastoma is a common pediatric tumor typically diagnosed before the age of fifteen. Initial therapy includes surgical resection and radiation of the entire neuro-axis. Recurrence is common and typically occurs within 2 years of initial diagnosis. Those fitting Collin's Law is considered tumor-free. We report a case of single supratentorial recurrence 13 years after initial diagnosis. Here we present a 22 year old male presenting 13 years after initial diagnosis with isolated septum pellucidum recurrence. He underwent complete resection of the tumor. Medulloblastoma is a common in the pediatric population. Late recurrence to the ventricular system is uncommon. Long term follow-up is recommended in these patients.

Rupturing Anterior Communicating Artery Aneurysm during Computed Tomography Angiography: Three-Dimensional Visualization of Bleeding into the Septum Pellucidum and the Lateral Ventricle

Computed tomography angiography (CTA) is commonly used in setting of subarachnoid hemorrhage, but imaging features of aneurysm rupturing taking place at the time of scanning has rarely been described. The author reports a case of actively rebleeding aneurysm of the anterior communicating artery with intraventricular extravasation on the hyperacute CTA imaging. The rebleeding route, not into the third ventricle but into the lateral ventricles, can be visualized by real-time three-dimensional CT pictures. The hemorrhage broke the septum pellucidum and the lamina rostralis rather than the lamina terminalis.

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.

Septo-optic dysplasia complex: clinical and radiological manifestations in Omani children

Septo-optic dysplasia [SOD], also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia [ONH], pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital [SQUH] who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Five patients [four males, one female] with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment [5/5], neonatal hypoglycemia [3/5], seizure disorder [2/5], and failure to thrive [4/5]. ONH was bilateral in 3/5 patients and unilateral in [2/5]. Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum [3/5], severe corpus callosum agenesis [1/5], ectopic pituitary [5/5], falx cerebri deficiency [1/5], optic nerve hypoplasia [5/5], optic chiasmal hypoplasia [5/5], and olfactory tract hypoplasia [1/5]. Endocrine deficits were detected in 4/5 patients [3 with panhypopituitarism, and 1 with growth hormone deficiency] and necessitated replacement therapy. SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving

Hipoplasia septo-óptica-hipofisária em paciente com septo pelúcido normal porém com risco de morte neonatal e a participação potencial do fator de transcrição hipofisário HESX1 / The potential involvement of the pituitary transcription factor HESX1 in the septo-optic-pituitary hypoplasia with normal septum pellucidum but life-threatening neonatal phenotype

A displasia septo-óptica (DSO) é uma síndrome do desenvolvimento considerada heterogênea, pois envolve anomalias da linhamédia do cérebro associadas a disfunções oftalmológicas, neurológicas e do eixo hipotálamo-hipófise. O fenótipo é altamentevariável dificultando a classificação da doença. Relatamos um caso de hipopituitarismo neonatal grave que levou à descobertade malformações cerebrais e hipoplasia do nervo óptico, sendo caracterizada assim a síndrome DSO-like. Mesmo em presençade um septo pelúcido normal e com poucas alterações na ressonância magnética, este paciente apresentou um fenótipo endócrinode alto risco de morte no período neonatal. Mutações genéticas têm sido raramente descritas no HESX1 e estão associadas avárias deficiências hormonais hipofisárias combinadas com a DSO. O gene HESX1 codifica um fator de transcrição pertencenteà classe de genes chamados homeobox. A partir deste gene candidato, foi isolada a região codificadora no DNA para análise porsequenciamento. Este relato de caso com seguimento clínico de 7 anos e estudo genético preliminar apresenta uma discussãoda investigação diagnóstica a partir do quadro inicial, destacando as alterações de neuroimagem encontradas nesta síndrome.

Cavum Septum Pellucidum: Hallazgo Mediante Disección Neuroanatómica / Cavum Septum Pellucidum: Finding from Neuroanatomical Dissection

Se reporta una marcada cavitación a nivel del septum pellucidum, un gran cavum septum pellucidum de una persona adulta, en el espacio reconocido generalmente como cerrado del sistema nervioso central, que se hace evidente como tal, en ciertas fases de la vida intrauterina. Esta cavitación está ausente en el adulto sano, pero en algunas personas esquizofrénicas y con demencia pugilística, dicha cavidad, puede considerarse como un hallazgo de relativa frecuencia. Este hallazgo se encontró aleatoriamente en uno de cuarenta y dos encéfalos de adultos, valorados superficialmente desde la anatomía macroscópica como normales. Dicho hallazgo posiblemente se asocie con desórdenes conductuales, en vista que dicho encéfalo correspondía a un individuo proveniente de un hospital psiquiátrico.

A marked cavitation in the septum pellucidum level is reported, a great cavum septum pellucidum of an adult in the closed space generally recognized as the central nervous system, which is evident in itself, at certain stages of intrauterine life. This cavitation is usually absent in the healthy adult, but in some people with schizophrenia and pugilistic dementia, the cavity can be regarded and found relatively frequently. This finding was found randomly in one of forty-two adult brains, superficially valued from the gross anatomy as normal. This finding may be associated with behavioral disorders, taking in to account that the brain corresponded to a person from a psychiatric hospital.

A case report on the relationship between treatment-resistant childhood-onset schizophrenia and an abnormally enlarged cavum septum pellucidum combined with cavum vergae / 中华医学杂志(英文版)

The treatment of refractory schizophrenia has been a clinical challenge for most psychiatrists; the possible reasons include diagnostic errors, medical conditions and brain dysgenesis. Here, we described a patient with childhood-onset schizophrenia who had severe psychiatric symptoms such as auditory hallucinations and persecutory delusions, and etc. We reexamined all his possible medical conditions and found that the patient had an abnormally enlarged cavus septum pellucidum (CSP) combined with cavum vergae (CV) (maximum length >30 mm). Some reports suggested that abnormal CSP (length >6 mm) has a significant association with schizophrenia. However, abnormally large CSP or CSP/CV and related prognosis were reported rarely. This case suggested that abnormally enlarged CSP or CSP/CV may worsen the prognosis.

The Clinical Efficacy of Decompressive Craniectomy in Patients with an Internal Carotid Artery Territory Infarction

OBJECTIVE: To evaluate the surgical efficacy of and factors associated with decompressive craniectomy in patients with an internal carotid artery (ICA) territory infarction. METHODS: Seventeen patients (8 men and 9 women, average age 61.53 years, range 53-77 years) were treated by decompressive craniectomy for an ICA territory infarction at our institute. We retrospectively reviewed medical records, radiological findings, and National Institutes of Health Stroke Scale (NIHSS) at presentation and before surgery. Clinical outcomes were assessed using the Glasgow Outcome Scale (GOS). RESULTS: Of the 17 patients, 15 (88.24%) achieved a poor outcome (Group A, GOS 1-3) and 2 (11.76%) a good outcome (Group B, GOS 4-5). The mortality rate at one month after surgery was 52.9%. Average preoperative NIHSS was 27.6+/-10.88% in group A and 10+/-4.24% in group B. Mean cerebral infarction fraction at the septum pellucidum level before surgery in group A and B were 33.67% and 23.72%, respectively. Mean preoperative NIHSS (p=0.019) and cerebral infarction fraction at the septum pellucidum level (p=0.017) were found to be significantly associated with a better outcome. However, no preexisting prognostic factor was found to be of statistical significance. CONCLUSION: The rate of mortality after ICA territory infarction treatment is relatively high, despite positive evidence for surgical decompression, and most survivors experience severe disabilities. Our findings caution that careful consideration of prognostic factors is required when considering surgical treatment.

Transseptumpellucidumrostrostomy: anatomical considerations and neuroendoscopic approach / Transseptopelucidorostrostomia: considerações anatômicas e abordagem neuroendoscópica

PURPOSE: Verify the presence of the rostral lamina of the corpus callosum, and set parameters for neuroendoscopy. METHODS: Relationship of the floor of the frontal horn of lateral ventricle and the hypothalamic-septal region were studied after sagittal and axial sections of the brains. Measurements were compared using F and Student t tests. The correlations between anterior-posterior diameter of the interventricular foramen / anterior-posterior diameter of the fornix column, and between anterior-posterior diameter of the interventricular foramen / length of the rostral lamina were performed by Pearson index test. RESULTS: There was no statistically significant difference in measurements performed in both hemispheres (p<0.05). Positive correlations were observed between the anterior-posterior diameter of the interventricular foramen / anterior-posterior diameter of the fornix column (R = 0.35), and between the anterior-posterior diameter of the interventricular foramen / length of the rostral lamina (R = 0.23). CONCLUSION: Rostral lamina was observed in all brains. It was possible to perform an endoscopic fenestration in the rostral lamina, communicating safely the lateral ventricle with a polygonal subcallosal cistern.

OBJETIVO: Verificar a presença da lâmina rostral do corpo caloso e padronizar parâmetros para a realização de neuroendoscopia. MÉTODOS: A relação do assoalho do corno frontal do ventrículo lateral e a região hipotálamo-septal lateral foi estudada através de secções sagitais e axiais dos cérebros. As medidas foram comparadas utilizando os testes F e t-Student. As correlações entre diâmetro ântero-posterior do forame interventricular / diâmetro ântero-posterior da coluna do fornix, e entre o diâmetro ântero-posterior do forame interventricular / comprimento da lâmina rostral foram estudadas pelo teste de Pearson. RESULTADOS: Não houve diferença estatisticamente significante nas medidas realizadas em ambos hemisférios (p <0.05). Correlações positivas foram observadas entre diâmetros ântero-posteriores do forame interventricular / coluna do fornix (R = 0.35), os diâmetros ântero-posteriores do forame interventricular / comprimento da lâmina rostral (R = 0.23). CONCLUSÃO: A lâmina rostral foi observada em todos espécimes. Foi possível realizar uma fenestração endoscópica na lâmina rostral, comunicando com segurança o ventrículo lateral a uma cisterna poligonal subcalosa.

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)

Brain Imaging Studies in Leber's Congenital Amaurosis: New Radiologic Findings Associated with the Complex Trait

PURPOSE: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients. METHODS: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%). RESULTS: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum. CONCLUSIONS: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.

Intracranial Dissemination from Spinal Cord Anaplastic Astrocytoma

We report a case of intracranial dissemination developing approximately 4 months after partial removal of a spinal cord anplastic astrocytoma in a 22-year-old male. He presented with paraplegia on initial admission at a local hospital. Spinal magnetic resonance (MR) images disclosed multiple intramedullary lesions at the T3-11. The tumor was partially removed. The final histologic diagnosis was anaplastic astrocytoma. Four months after the operation, he was admitted with the symptoms of headache and deterioration of consciousness. MR images showed enhanced lesions in the anterior horn of the left lateral ventricle, and septum pellucidum. He underwent computed tomography-guided stereotactic biopsy and histological appearance was consistent with anaplastic astrocytoma. The clinical course indicates that the tumor originated in the spinal cord and extended into the subarachnoid space, first the spinal canal and later intracranial.

Hipoplasia del nervio óptico y displasia septo-óptica / Optic nerve hypoplasia and septo-optic dysplasia

La displasia septo-óptica o síndrome de De Morsier es un trastornopoco usual del desarrollo embrionario. Consiste en la hipoplasia de uno o ambos nervios ópticos, malformacionescerebrales de la línea media y disfunción hipotálamo-hipofisaria, la cual es inconstante. En el presente trabajo se describen los hallazgos de 9 pacientes con displasia septo-óptica.