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)

Neuromyelitis optica: brain abnormalities in a Brazilian cohort

Neuromyelitis optica (NMO) is a demyelinating disease consisting of relapsing-remitting optic neuritis and myelitis with a more severe course than Multiple Sclerosis. Recently, it has been shown that almost 50 percent of patients with NMO can have brain magnetic resonance imaging (MRI) abnormalities. We report on six Brazilian patients with NMO, fulfilling the 1999 Wingerchuck criteria for this disease, with abnormal brain MRI and discuss their clinical and radiological features.

Neuromielite óptica (NMO) é doença desmielinizante, remitente-recorrente, com acometimento predominante dos nervos ópticos e medula espinal e uma evolução mais grave comparada à esclerose múltipla. Estudos recentes demonstraram que até 50 por cento dos pacientes com NMO podem apresentar lesões encefálicas à ressonância magnética (RM). Relatamos seis pacientes brasileiros com NMO, que satisfazem os critérios diagnósticos de Wingerchuck (1999) para NMO, com alterações encefálicas em RM de encéfalo e discutimos seus dados clínicos e de imagem.

Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report

Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.

Bilateral Hypertrophic Degeneration of the Inferior Olivary Nucleus secondary to Infarction of the Brainstem and Cerebellum: A Case Report

Hypertrophic olivary degeneration (HOD) is regarded as a secondary degenerative change subsequent to the formation of lesions in the "Guillain-Mollaret Triangle," and this is the result of the loss of transsynaptic neurologic input to the inferior olivary nucleus. HOD usually occurs unilaterally, but bilateral hypertrophic olivary degeneration is known to be rare. We experienced one case of this lesion, and we report here on the bilateral HOD that was secondary to infarction of the brainstem and cerebellum.

Marchiafava-Bignami Disease with Abnormal PET Findings: Case Report

We report the FDG PET findings in a patient with Marchiafava-Bignami disease (MBD) in whom there was diffusely reduced metabolism in the whole brain cortex and strongly decreased metabolism in the thalami. The use of FDG PET helps provide an understanding of the neurologic manifestations and prognosis of MBD.

MR Imaging Findings of Cortical Dysplasia of the Brain: Correlation with Pathologic Grades and Subtypes

PURPOSE: Cortical dysplasia is known to be of variety of MR imaging findings. We attempted to classify MR imaging findings of cortical dysplasia into several types and to correlate those with histopathologic grades and subtypes. MATERIALS AND METHODS: Preoperative MR images of 97 patients with pathologically-proven cortical dysplasia were retrospectively reviewed with knowledge of the diagnosis and operative sites. The patients were divided into MR- positive and MR-negative groups based on the presence or absence of MR imaging abnormalities. In MR-positive group, MR imaging features were arbitrarily classified into four types (atrophic, cortical-band, inward-rounding, and nonspecific types) on the basis of size of the gyrus and adjacent CSF space, cortical thickness, signal intensity of the subcortical white matter, and blurring of the gray-white matter junction. The pathologic findings were also retrospectively reviewed without knowledge of MR imaging findings and divided into three grades (mild, moderate, and severe) and two subtypes (nonballoon-cell and balloon-cell). Pathologic grades and subtypes were compared between MR-positive and MR-negative groups. Four MR types of the MR-positive group were correlated with the pathologic grades and subtypes. RESULTS: MR-positive and MR-negative groups consisted of 39 (40%) and 58 (60%) patients, respectively . Of the MR-positive group, atrophic type was seen in 13 patients (33%), corticalband type in 9 (23%), inward-rounding type in 9 (23%), and nonspecific type in 8 (21%). There was no significant difference in the pathologic grades between MR-positive and MR-negative groups, although MR-positive group tended to have higher pathologic grades than MR-negative group did. Balloon-cell subtype was found significantly higher in MR-positive group than in MRnegative group (p<0.05): 21% (8/39) versus 5% (3/58). The inward-rounding type corresponded to the pathologically severe grade and balloon-cell subtype in 78% (7/9) and 56% (5/9) of the patients, respectively, while the atrophic type to the mild grade and nonballoon-cell subtype in 77% (10/13) and 100% (13/13), respectively. CONCLUSION: A variety of MR imaging abnormalities were found in 40% of the patients with cortical dysplasia and those were classified into four types (atrophic, cortical-band, inwardrounding, and nonspecific types), of which the inward-rounding type correlated well with the pathologically severe grade and balloon-cell subtype, whereas the atrophic type with the mild grade and nonballoon-cell subtype.

Curved Planar Reconstruction of MR Images in Focal Cortical Dysplasia of the Brain

PURPOSE: To describe curved planar reconstruction imaging (CPRI) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. MATERIALS AND METHODS: In 17 cases of focal cortical dysplasia [cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3)], CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetizationprepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. RESULTS: CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CONCLUSION: CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation of suspected cases of focal cortical dysplasia.

Spontaneous Partial Regression of Cerebral Arteriovenous Malformation

Arteriovenous malformation (AVM) of the brain is one of the important pathologic conditions which cause intracerebral or subarachnoid hemorrhage, epilepsy, or chronic cerebral ischemia. The spontaneous regression of cerebral AVM is reported to be very rare and more likely to occur when the AVM is small, is accompanied by hemorrhage, and has fewer arterial feeders. We report a case of right occipital AVM which at follow-up angiography performed four years later showed near-complete spontaneous regression.

Septooptic Dysplasia: A Case Report

Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum.

Imaging Findings of the Brain Abnormalities in Acute Lymphoblastic Leukemia of Children during and after Treatment

PURPOSE: We evaluated the imaging abnormalities of the brain observed during and after treatment of acute childhood lymphoblastic leukemia. MATERIALS AND METHODS: The study group consisted of 30patients (male: female= 19:11; mean age, 64months) with acute childhood lymphoblastic leukemia during the previous ten-year period who had undergone pro-phylaxis of the central nervous system. Irrespective of the CNS symptoms, baseline study of the brain involving CT and follow-up CT or MRI was undertaken more than once. We retrospectively evaluated the imaging findings, methods of treatment, associated CNS symptoms, and the interval between diagnosis and the time at which brain abnormalities were revealed by imaging studies. RESULTS: In 15 (50% ; male : female=9:6 ; mean age, 77months) of 30 patients, brain abnormalities that included brain atrophy (n=9), cerebral infarctions (n=4), intracranial hemorrhage (n=1), mineralizing microangiopathy (n=2), and periventricular leukomalacia (n=3) were seen on follow-up CT or MR images. In four of nine patients with brain atrophy, imaging abnormalities such as periventricular leukomalacia(n=2), infarction (n=1) and microangiopathy (n=1) were demonstrated. Fourteen of the 15 patients underwent similar treatment; the one excluded had leukemic cells in the CSF. Six patients had CNS symptoms. In the 15 patients with abnormal brain imaging findings, the interval between diagnosis and the demonstration of brain abnormalities was between one month and four years. After the cessation of treatment, imaging abnormalities remained in all patients except one with brain atrophy. CONCLUSION: Various imaging abnormalities of the brain may be seen during and after the treatment of acute childhood lymphoblastic leukemia and persist for a long time. In children with this condition, the assessment of brain abnormalities requires follow-up study of the brain.

Atretic Cephalocele: Report of Two Cases

In cases of meningoencephalocele, brain tissue, which is enveloped by the meninges and cerebrospinal fluid, herniates through the skull defect. Atretic cephalocele, on the other hand, is a congenital malformation in which small meningeal and vestigial glial tissue herniates through this defect; a benign nodular lesion is found near the midline of the scalp. Atretic cephalocele can occur in the parietal or occipital area; in cases involving the latter, the prognosis is poor. We report the radiologic findings of two cases of atretic cephalocele confirmed by surgery and pathologic findings.

MR Findings of Kallmann Syndrome

Kallman syndrome is characterised by hypogonadotrophic hypogonadism and anosmia. T1 weighted MR coronal images show the bilateral absence or hypoplasia of olfactory bulbs, tracts, and sulci. We report the MR findings of Kallmann syndrome and revew the literature.

Three-Dimensional Surface Rendering Image of Cerebral Cortical Disease

PURPOSE: To describe the abnormal gyral and sulcal patterns obtained by means of three-dimensional (3-D) surface-rendering MR imaging in patients with cerebral cortical disease. MATERIALS AND METHODS: Thirteen patients with cerebral cortical disease [M:F=9:4, aged 8 -55 (median, 26.6) years] underwent 3-D surface-rendering MR imaging. Seven had cortical dysplasia and six showed gyral atropic change, conditions which in all cases were pathologically confirmed. All were the subject of conventional brain MRI imaging studies using the MP-RAGE (magnetization-prepared rapid gradient-echo) sequence, and the resulting 3-D data sets were processed on a commercially available workstation. Abnormal gyral and suleal configurations were reviewed. RESULTS: Abnormal gyral and sulcal patterns were seen in all patients. In eight cases these involved the frontal lobe, in three the parietal lobe, and in two the sylvian fissure. In four patients with cortical dysplasia, conventional MR imaging revealed no cortical abnormality, but 3-D surface-rendering MRI indicated that the configuration and orientation of affected gyri and sulci were abnormal. In nine patients in whom an abnormal gyral pattern was revealed by conventional MRI, 3-D surface imaging confirmed the presence of a thick and enlarged gyrus, or that the configuration of affected gyri was atrophic and abnormal. CONCLUSION: In patients with cerebral cortical disease, 3-D surface-rendering MR imaging detects a high rate of abnormal gyral and sulcal patterns.

Three-Dimensional Surface Rendering Image of Cerebral Cortical Disease

PURPOSE: To describe the abnormal gyral and sulcal patterns obtained by means of three-dimensional (3-D) surface-rendering MR imaging in patients with cerebral cortical disease. MATERIALS AND METHODS: Thirteen patients with cerebral cortical disease [M:F=9:4, aged 8 -55 (median, 26.6) years] underwent 3-D surface-rendering MR imaging. Seven had cortical dysplasia and six showed gyral atropic change, conditions which in all cases were pathologically confirmed. All were the subject of conventional brain MRI imaging studies using the MP-RAGE (magnetization-prepared rapid gradient-echo) sequence, and the resulting 3-D data sets were processed on a commercially available workstation. Abnormal gyral and suleal configurations were reviewed. RESULTS: Abnormal gyral and sulcal patterns were seen in all patients. In eight cases these involved the frontal lobe, in three the parietal lobe, and in two the sylvian fissure. In four patients with cortical dysplasia, conventional MR imaging revealed no cortical abnormality, but 3-D surface-rendering MRI indicated that the configuration and orientation of affected gyri and sulci were abnormal. In nine patients in whom an abnormal gyral pattern was revealed by conventional MRI, 3-D surface imaging confirmed the presence of a thick and enlarged gyrus, or that the configuration of affected gyri was atrophic and abnormal. CONCLUSION: In patients with cerebral cortical disease, 3-D surface-rendering MR imaging detects a high rate of abnormal gyral and sulcal patterns.

Neuroradiology in the Ocular Motility Disorders: I. Supranuclear Pathway

The supranuclear control of eye movement invo l ves the pathway extending from the cerebral cortex to theocular motor nuclei located in the brain stem. This paper de-scribes the normal supranuclear pathway, whichcontrols eye movement. We also include magnetic resonance imaging findings of the typical ocular manifestationscaused by disorders involving the supranuclear pathway, providing the anatomic ex-planations for certain clinicalsigns.

Neuroradiology in the Ocular Motility Disorders: II. Nuclear and Infranuclear Pathway

The nuclear and infranuclear pathway of eye movement begins from the ocular mo-tor nuclei situated in thebrain stem, where the axons originate and form three ocular motor nerve s. Although each of the ocular motornerves follows a distinct route to reach the end organ, the extraocular muscles, they also have common housings inthe cavernous sinus and at the orbital apex, where part or all of them are frequently and simultaneously affectedby a common disease process. Since the fine details of normal and diseased structures can frequently be seen onradiologic imaging, especially mag-netic resonance (MR) imaging, a knowledge of the basic anatomy invo l ved innuclear and infranuclear eye movement is important. In this description, in addition to the normal nuclear andinfranuclear pathway of eye movement, we have noted the radio-logic findings of typical diseases involving eachsegment of the nuclear and infranu-clear pathway, particularly as seen on magnetic resonance images. Briefcomments on ocular motor pseudopalsy, which mimics ocular motor palsy, are also included.

Radiologic Findings of Sinus Pericranii

Sinus pericranii is a rare vascular anomaly consisting of abnormal venous communication between intra- andextracranial circulation. We report one case, confirmed by surgery, and describe the radiological findings ofDoppler ultrasonography, CT and MR imaging.

MR Imaging of Tuberous Sclerosis: Emphasis on the Cortical and Subcortical Tubers

PURPOSE: To evaluate the frequency, location, and signal intensities of parenchymal (cortical andsubcortical) tubers and white matter lesion, as seen on MR images of patients with tuberous sclerosis. MATERIAL AND METHODS: Twenty patients diagnosed on the basis of clinical and MR findings as suffering from tuberoussclerosis, were retrospectively reviewed. Their ages ranged from 6 days to 21 years (mean, 5.2 years), and theywere divided into two groups according to age : under 18 months (n=9) and over 18 months(n=11). We analyzed thefrequency, location, and enhancement patterns of tubers and white matter lesions, and the difference of signalintensities between cortical and subcortical tubers according to age. RESULTS: Cortical tubers were detected in11 patients (55%), subcortical tubers in 18 (90%), and white matter lesions in 16 (80%). Subcortical tubers weremore frequently noted than cortical tubers and the two types did not always accompany each other. Cortical tuberswere most commonly located in the frontal lobe(10/11), followed by the parietal lobe(2/11), and temporallobe(2/11). Subcortical tubers were also most commonly located in the frontal lobe(17/18), followed by thetemporal lobe(10/18). White matter lesions were also frequently observed in the frontal lobe(13/16) and wererelated to the location of parenchymal tubers in 12 of 16 white-mater lesions. There were no lesions in thecerebellum. The signal intensities of cortical and subcortical tubers were different in all patients. Those ofsubcortical tubers showed no significant difference between the two age groups, but in patients under 18 months,signal intensity on T1WI tended to be high(5/6), and on T2WI, tended to be low(5/6). In 15 patients, Gd-DTPAenhanced MR images showed no demonstrable enhancement, except in one case involving white-matter lesion. CONCLUSION: Both cortical and subcortical tubers were commonly located in the frontal lobe, but the latter weremore frequently observed than the former. Subcortical tubers did not always accompany cortical tubers, and on MRimaging, the signal intensities of the two types were different in all cases. Differentiation of cortical andsubcortical tubers by MR imaging may therefore help analyze the parenchymal tubers seen in tuberous sclerosis.

Location of Primary Motor Cortex Function in Cerebral Migration Disorder

PURPOSE: The purpose of this study was to demonstrate by functional MRI (MRI) the location of the primarymotor cortex in patients with schizencephaly. MATERIALS AND METHODS: fMRI was performed in four patients withschizencephaly who complained of seizures;three were right handed and one was ambidex trous. Associated lesionswere agenesis of the corpus callosum in one patient and absence of the septum pellucidum in another. fMRI employedthe single sliced FLASH BOLD technique using a 1.5-T MR imager with a standard head coil, and was obtained in theaxial plane. Thirty consecutive images were obtained on finger movements of each hand were obtained;the motor taskconsisted of repetitive finger to thumb opposition. Percentage change in primary motor cortex signal intensity wascalculated, and ipsilateral activation index was compared betweenthe affected and unaffected hemispheres. RESULTS: Percentage change in signal intensity increase in the activated area of the unaffected hemisphere ranged from4.8% +/-0.9% to 9.2+/-1.2%(mean:5.6%+/-1.5%) of the baseline value. The ipsilateral activation index of the affectedhemisphere was 0-0.38 and that of the unaffected hemisphere was 15.4-Infinity;in patients with schizencephalysignificantly different(p<0.01). CONCLUSION: Our results suggest that increased activation in the unaffectedhemisphere reflect functional reorganization of the primary motor cortex.

Cortical Dysplasia: MRI Findings According to the Pathological Grading

PURPOSE: To describe the MRI findings of cortical dysplasia (CD) according to pathological grading. MATERIALS AND METHODS: MRI findings in 24 patients with pathologically proven CD were retrospectively reviewed and weredescribed according to their histologic grading. The group consisted of 11 men and 13 women, and their median agewas 21.4(range, 5 to 41) years. Histologic findings were assigned one of three grades : Grade I (dyslamination ofcortical layers only); Grade II (additional dysplastic neurons); or Grade III(additional balloon cells). T1 and T2Wspin-echo MR images were obtained and were evaluated with specific reference to detection rate, location of theanomaly, the presence or absence of prolonged T2 relaxation in the underlying white matter, and configuration ofthe dysplastic cortex. RESULTS: Nine patients were found to be suffering from grade I CD, seven from grade II,and eight from grade III. MRI findings were abnormal in 58% of cases(14/24);three of these were grade I, four weregrade II, and seven were grade III. Among these 14 patients, four had the lesion in the frontal lobe;five, in thetemporal lobe;one, in the parietal lobe; two, in the sylvian fissure area, and two with tuberous sclerosis hadmultiple lesions. Of twelve patients with cortical dysplasia other than tuberous sclerosis, as seen on MRI, sixshowed poor gray-white matter differentiation, and six showed cortical thickening ; this ranged from 7-10mm inthickness with irregular, bumpy cortical surfaces. Areas of prolonged T2 relaxation in the underlying white matterwere present in six patients. CONCLUSION: MRI findings were abnormal in 58% of CD patients. The higher thepathological grading, the higher the detection rate of CD on MRI. To increase the detectability of slight corticaldysplasia, technical development, including new MR pulse sequences or imaging methods, is needed.