Isolated hemorrhage in the cerebellar vermis with vertigo and body lateropulsion to the contralesional side / 영남의대학술지

There have been several reports of patients with isolated lesions of the cerebellar vermis presenting with clinical features similar to those of peripheral vestibulopathy. We report a case of small, isolated hematoma in the cerebellar vermis in a patient who presented with vertigo, ipsilesional nystagmus, and body lateropulsion to the contralesional side without the usual signs or symptoms of cerebellar dysfunction. Although they present with symptoms that mimic those of peripheral vestibulopathy, and brain computed tomography shows no abnormality, as there may be a small, isolated hematoma or infarction in the cerebellar vermis. Thus, brain magnetic resonance imaging should be performed in elderly patients with vascular risk factors.

Romboencefalosinapsis como causa de ventriculomegalia severa. Reporte de dos casos / Rhomboencephalosynapsis as a cause of severe vetriculomegaly. Report of two cases

We report two cases of a rare pathology of the fetal cerebellum, rhomboencephalosynapsis, a defect characterized by the partial or complete absence of the cerebellar vermis, which is currently associated with severe ventriculomegaly due to defects in the formation of the cerebral aqueduct. These are the first cases reported in Peru

Reportamos dos casos de una patología rara del cerebelo fetal, la romboencefalosinapsis, defecto caracterizado por la ausencia parcial o completa del vermis cerebeloso, frecuentemente asociada a ventriculomegalia severa por defectos en la formación del acueducto de Silvio. Estos constituyen los primeros casos reportados en Perú.

Craniocerebral ultrasonography in evaluation on correlation between brain development with gestational age and birth weight of neonatal brain / 中国医学影像技术

Objective To explore the value of craniocerebral ultrasonography in evaluation on neonatal brain development.Methods Totally 135 newborns were collected in neonatal intensive care unit.The sagittal length of the corpus callosum and the sagittal length of the cerebellar vermis were measured on the day of birth.The impact of gestational age and birth weight on the development of the corpus callosum and cerebellar vermis were analyzed.Results The mean sagittal length of corpus callosum at birth in premature infants and term infants was (39.18 ± 2.53) mm and (41.62 ± 3.28) mm,respectively (t =4.87,P＜0.05).The sagittal length of cerebellar vermis in premature infants and term infants was (19.03 ±2.00)mm and (20.91 ±2.29)mm,respectively (t=5.05,P＜0.05).The length of the corpus callosum was positively correlated with gestational age and birth weight (rs =0.45,0.51,both P ＜ 0.05),while the sagittal length of cerebellar vermis was positively correlated with gestational age and birth weight (rs =0.42,0.46,both P＜0.05).The length of the corpus callosum was positively correlated with the length of cerebellar vermis (rs =0.43,P ＜0.05).Conclusion Craniocerebral ultrasonography can be used to dynamically observe the neonatal intracranial structure and the development of corpus callosum and cerebellar vermis,therefore providing reliable references for clinical intervention.

Wernicke Encephalopathy Associated with Acute Wet Beriberi

Wernicke encephalopathy is usually accompanied with peripheral neuropathy, known as dry beriberi. In contrast, wet beriberi presenting as cardiovascular symptoms rarely occurs. The acute type of wet beriberi can be fatal, if untreated quickly. It is reported that the cerebellar vermis has a role of the coordination and control of cardiovascular and autonomic reflex activities. We report a 58-year-old man showing acute wet beriberi in Wernicke encephalopathy with cerebellar vermis lesion.

Variante de Dandy Walker: reporte de un caso / Dandy-Walker variant: Case report

Introducción: La variante de Dandy Walker se define como una hipoplasia variable del vermis cerebeloso, con o sin aumento de la fosa posterior y sin elevación del tentorio. Objetivo: Describir el caso de una enfermedad poco frecuente y hacer énfasis en la necesidad de precisar la etiología de malformaciones prenatales en niños que son clasificados erróneamente como parálisis cerebral secundaria a asfixia, así como su manejo multidisciplinario. Caso clínico: Paciente varón, de 8 años de edad, con antecedentes de parálisis cerebral infantil, epilepsia y retraso del desarrollo, que fue ingresado por historia de convulsiones tónico-clónicas. Durante su hospitalización presentó múltiples episodios convulsivos, controlados con anticonvulsivantes. Se realizó tomografía computarizada, observándose comunicación entre la cisterna magna y el cuarto ventrículo; este último aumentado de tamaño. Además, el vermis del cerebelo presentaba hipoplasia parcial, siendo estos hallazgos compatibles con una variante del síndrome Dandy Walker. Conclusión: La variante de Dandy Walker puede ser sintomática o asintomática, y las imágenes encontradas no necesariamente se relacionan con las alteraciones del desarrollo, debido a los múltiples síndromes y alteraciones cromosómicas vinculadas a este cuadro. La presentación clínica y el pronóstico dependen de las alteraciones presentes. Por ello, es importante un manejo multidisciplinario considerando que el tratamiento depende de los síntomas presentados.

Introduction: Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation. Objective: describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management. Case report: A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome. Conclusion: Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented.

Efecto de la adrenomedulina cerebelosa frente al estrés agudo / Effect of cerebellar adrenomedullin during acute stress

La adrenomedulina (AM) es un péptido involucrado en la regulación cardiovascular. En el cerebelo, la densidad de los receptores de la AM se encuentra alterada durante la hipertensión, sugiriendo un posible papel del sistema adrenomedulinérgico cerebelar en la regulación de la presión arterial (PA). El objetivo del presente estudio fue evaluar el efecto funcional in vivo de la AM durante el estrés agudo, mediante la administración in situ de AM en el vermis cerebelar de la rata. Se emplearon ratas adultas normotensas Wistar Kyoto (WKY) y Sprague Dawley (SD) y ratas espontáneamente hipertensas (SHR) las cuales fueron anestesiadas y posteriormente canuladas en el vermis cerebelar. El estrés se indujo mediante el uso del estímulo eléctrico plantar (EEP). Los animales fueron divididos en grupos que recibieron AM (0,2 o 200 pmol/5μL) o vehículo (solución fisiológica, 5μL). La PA se determinó antes del experimento y después de la administración del tratamiento respectivo, seguida de la aplicación del EEP (100 V, 5 Hz, 10 mseg, durante 4 minutos). La PA se determinó mediante pletismografía digital no invasiva. Los resultados demuestran que la microinyección de AM (0,2 y 200 pmol) in situ en el vermis cerebeloso en ratas SD, WKY y SHR disminuye significativamente la respuesta presora frente al estrés inducido por el EEP, lo que sugiere que la acción hipotensora está mediada a través de la regulación del eflujo simpático. Estos hallazgos demuestran la participación de la AM cerebelosa en la regulación de la respuesta cardiovascu lar frente al estrés.

Adrenomedullin (AM) is a peptide involved in cardiovascular regulation. In the cerebellum, the density of AM receptors is altered during hypertension, suggesting a pos sible role of cerebellar adrenomedulinergic system in the regulation of blood pressure (BP). The aim of this study was to evaluate the functional role of AM during acute stress, by in situ administration of AM into the cerebellar vermis in rats. Adult normotensive Wistar Kyoto (WKY) and Sprague Dawley (SD) rats and spontaneously hypertensive rats (SHR), were anes thetized and their cerebellar vermis cannulated. Footshock was used as stressor. Animals were divided into groups that received either AM (0.2 and 200 pmol/5μL) or vehicle (physiological saline, 5μL). The BP was determined, using noninvasive digital plethysmography, before and after treatment, followed by footshock (100V, 5 Hz, 10 msec, for 4 minutes). The results show that microinjection of AM (0.2 and 200 pmol) in situ into the cerebellar vermis in SD, WKY and SHR rats, significantly decreased the pressor response induced by footshock stress, sugges ting that the hypotensive action is mediated through regulation of sympathetic outflow. Taken together, our results demonstrate a role of cerebellar AM in the regulation of cardiovascular response to stress.

Síndrome cerebeloso por mesalamina: reporte de un caso / Cerebellar syndrome for mesalamine: a case report

El cerebelo proviene del latín "pequeño cerebro", es aproximadamente una décima parte del cerebro en tamaño y peso, se encuentra en la fosa craneal posterior. está conectado directamente o indirectamente a una variedad de estructuras, incluyendo el tronco cerebral, la columna vertebral, las regiones corticales y subcorticales. El cerebelo contiene casi el 80 % del total de las neuronas del cerebro y se compone de formas diferenciadas de unidades neuronales, cada una compartiendo microcircuitos cerebelosos básicos. El cerebelo está formado por dos hemisferios laterales y una porción media o vermis . El cerebelo tiene varias funciones: coordinar los movimientos voluntarios especializados al influir en la actividad muscular y controlar el equilibrio, el tono muscular a través de conexiones con el sistema vestibular, la médula espinal y sus neuronas motoras alfa. Dentro de la corteza del cerebelo existe una organización somatotópica de las partes del cuerpo. El cerebelo es una pieza clave para el procesamiento de la información y participa en numerosas actividades motoras y no motoras, gracias a las características anatómicas de sus circuitos, las enormes capacidades de análisis y la alta conectividad con otras áreas del cerebro, puede verse afectado por diferentes factores como: anormalidades en el desarrollo embrionario, tóxicos, enfermedades autoinmunes, inflamatorias, vasculares y metabólicas, infecciones, tumores primarios y secundarios, traumas, iatrogénicos, enfermedades genéticas, esporádicas, dando origen a signos y síntomas que causan un síndrome cerebeloso de acuerdo al área anatómica comprometida. En la literatura científica no hay reportes de casos de síndrome cerebeloso por mesalamina (mesalazina). A continuación presentamos el primer caso.

Cerebellum is Latin for "little brain" is about a tenth of the brain in size and weight, is in the posterior cranial fossa. It connects directly or indirectly to a variety of structures, including brainstem, spinal cord, cortical and subcortical regions. The cerebellum contains almost 80% of all neurons in the brain and consists of different forms of neuronal units, each sharing basic cerebellar microcircuits. The cerebellum is formed by two lateral hemispheres and vermis or a middle portion . The cerebellum has several functions: coordinate movements specialized volunteers to influence muscle activity and control the balance, muscle tone through connections with the vestibular system, the spinal cord and alpha motor neurons. Within the cerebellar cortex somatotopic organization exists a body part. The cerebellum is a key to information processing and participates in numerous motor and non-motor activities, thanks to the anatomical characteristics of its routes, huge analysis capabilities and high connectivity with other brain areas, can be affected by different factors such as abnormalities in embryonic development, toxic, autoimmune, inflammatory, vascular and metabolic, infections, primary and secondary tumors, trauma, iatrogenic, genetic diseases, sporadic, giving rise to signs and symptoms that cause cerebellar syndrome according to compromised anatomical area. In the scientific literature no reported cases of cerebellar syndrome mesalamina (mesalazina), we report the first case.

Isolated Infarction of Anterior Cerebellar Vermis / 대한평형의학회지

The anterior cerebellar vermis has been known to act in coordination of gait and postural adjustment of the trunk and legs. However, oculomotor abnormalities in an isolated anterior vermian lesion have not been described in the literature. A 59-year-old man presented with acute non-rotatory dizziness and disequilibrium. Neuro-ophthalmologic examination found impaired smooth pursuit and hypometric saccades in the contralesional direction, and disconjugate ipsiversive ocular torsion, but without spontaneous or gaze-evoked nystagmus. Imaging study showed an infarction restricted to the rostral end of right cerebellar vermis involving the lingual and central lobules. The anterior cerebellar vermis participates in the maintenance of axial posture and gait, and also in the control of ocular motor and vestibular systems.

Fetal brainstem-vermis angle and brainstem-tentorium angle measured with three-dimensional ultrasonography and its application in mega cisterna magna / 中华超声影像学杂志

Objective To establish the ranges of normal reference values of fetal brainstem-vermis angle (BVA)and brainstem-tentorium angle (BTA)in normal fetuses at different gestational weeks,and to evaluate their clinical values in the diagnosis of mega cisterna magna.Methods Totally 320 normal singleton fetuses between 1 8 and 40 weeks of gestation were enrolled in this study.Three-dimensional ultrasound (3DUS)with volume contrast imaging (VCI)was used to measure their BVA and BTA,the correlations of BVA and BTA with gestational age were analyzed.The BVA and BTA of 24 fetuses with mega cisterna magna were also measured and were compared with those of the normal fetuses.Results In these normal fetuses,the BVA and BTA showed no correlations with gestational age (r=-0.05,0.04,both P >0.05);the ranges of normal reference values of BVA and BTA were 2.23°-19.30°and 18.53°-48.13°, respectively.The BVA and BTA of 24 fetuses with mega cisterna magna were 4.23°-17.42°and 20.41°-40.89°,respectively,which were not significantly different from those of normal fetuses (t =-0.55,0.92, both P >0.05).Conclusions 3DUS with VCI is feasible for measuring the BVA and BTA of fetuses,and the measured values can be used as the reference standards for BVA and BTA measurement in China.

White matter plasticity in the cerebellum of elite basketball athletes / 대한해부학회지

Recent neuroimaging studies indicate that learning a novel motor skill induces plastic changes in the brain structures of both gray matter (GM) and white matter (WM) that are associated with a specific practice. We previously reported an increased volume of vermian lobules VI-VII (declive, folium, and tuber) in elite basketball athletes who require coordination for dribbling and shooting a ball, which awakened the central role of the cerebellum in motor coordination. However, the precise factor contributing to the increased volume was not determined. In the present study, we compared the volumes of the GM and WM in the sub-regions of the cerebellar vermis based on manual voxel analysis with the ImageJ program. We found significantly larger WM volumes of vermian lobules VI-VII (declive, folium, and tuber) in elite basketball athletes in response to long-term intensive motor learning. We suggest that the larger WM volumes of this region in elite basketball athletes represent a motor learning-induced plastic change, and that the WM of this region likely plays a critical role in coordination. This finding will contribute to gaining a deeper understanding of motor learning-evoked WM plasticity.

Estudio neuropsicológico pre y posquirúrgico en dos niños de 8 años de edad con tumor en fosa posterior / Neuropsychological study pre and post surgical in two children aged 8 years with posterior fossa tumor

Objetivo: Identificar y describir las diferencias neuropsicológicas antes y después de resecar el tumor en 2 pacientes de 8 años de edad con una neoplasia en la fosa posterior. Metodología: Se realizó evaluación neuropsicológica pre y posquirúrgica a 2 pacientes de 8 años de edad del Instituto Nacional de Pediatría, uno femenino con quiste aracnoideo en cisterna paravermiana y otro masculino con meduloblastoma en vermis y se compararon los datos obtenidos antes de extirpación de tumor y después de ella. Para la obtención del IQ se aplicó el WISC-IV y para las otras funciones, la Evaluación Neuropsicológica Infantil (ENI), para niños de 5 a 16 años, obteniéndose sus valores en percentiles que se igualaron con la clasificación cualitativa. Resultados: Los 2 pacientes presentaron deficiencias en el IQ, en Funciones Cognitivas, en las Habilidades de Rendimiento Académico, así como en sus Funciones Ejecutivas. A pesar de que no se aplicó quimioterapia ni radioterapia, tanto antes de la cirugía, como después de la extirpación del tumor, empeorando dichas funciones después de la extirpación. Conclusiones: Los tumores en Fosa Posterior originan diversas alteraciones neuropsicológicas similares a las observadas con lesiones en la corteza cerebral, dichas alteraciones se hacen más severas después de la extirpación del tumor; esta evolución puede presentar un dilema a la luz de la Bioética: ¿Se prolonga la vida a expensas de mayor deterioro neurocognitivo al quitar el tumor, o no se opera para evitar mayor deterioro en la calidad de vida y se reduce el tiempo de vida?.

Aim: Identify and describe the neuropsychological differences before and after surgery in 2 patients 8 years of age with a tumor in the posterior fossa. Methodology: Neuropsychological assessment was performed before and after surgery to 2 patients (8 years of age), one female with arachnoid cyst in paravermian cyst and another male with medulloblastoma in vermis and we compared the data obtained before removal of tumor and after. We use the following Neuropsychological Tests: WISC-IV was applied to assess IQ and Child Neuropsychological Assessment (ENI) was to evaluate cognitive functions. Results: The 2 patients had deficits in IQ, cognitive functions, the academic performance skills and his executive skills, even without chemotherapy or radiotherapy, both before surgery and after removal of the tumor. These functions worsened after surgery. Conclusions: Posterior fossa tumors originate many various neuropsychological similar to those observed in cerebral cortex, these changes are most evident after removal of the tumor, this evolution can present a dilemma in light of Bioethics: Is justified to prolong the life at expense of neurocognitive impairment, after removing a big tumor, or not to operate preventing further deterioration in the quality of life and reducing the lifetime?.

Primary yolk sac tumor of the cerebellar vermis: A case report.

Extragonadal germ cell tumors are rare and comprise 2-5% of all germ cell tumors. Seminoma/dysgerminoma, teratoma, yolk sac tumor (YST) and mixed germ cell tumors are few of the extragonadal germ cell tumors arising within the brain. Of these, primary pure YSTs arising in the brain are extremely rare and arise in the pineal (62%) and suprasellar (31%) regions. Primary YST occurring in the cerebellum is exceedingly rare, associated with a very poor prognosis and has been reported in less than 10 cases in literature. We herein report a case of primary pure yolk sac tumor in the cerebellar vermis in a 2-year-old child.

Effect of histamine H1 and H2 receptor antagonists, microinjected into cerebellar vermis, on emotional memory consolidation in mice

This study investigated the effects of histamine H1 or H2 receptor antagonists on emotional memory consolidation in mice submitted to the elevated plus maze (EPM). The cerebellar vermis of male mice (Swiss albino) was implanted using a cannula guide. Three days after recovery, behavioral tests were performed in the EPM on 2 consecutive days (T1 and T2). Immediately after exposure to the EPM (T1), animals received a microinjection of saline (SAL) or the H1 antagonist chlorpheniramine (CPA; 0.016, 0.052, or 0.16 nmol/0.1 µL) in Experiment 1, and SAL or the H2 antagonist ranitidine (RA; 0.57, 2.85, or 5.7 nmol/0.1 µL) in Experiment 2. Twenty-four hours later, mice were reexposed to the EPM (T2) under the same experimental conditions but they did not receive any injection. Data were analyzed using one-way ANOVA and the Duncan test. In Experiment 1, mice microinjected with SAL and with CPA entered the open arms less often (%OAE) and spent less time in the open arms (%OAT) in T2, and there was no difference among groups. The results of Experiment 2 demonstrated that the values of %OAE and %OAT in T2 were lower compared to T1 for the groups that were microinjected with SAL and 2.85 nmol/0.1 µL RA. However, when animals were microinjected with 5.7 nmol/0.1 µL RA, they did not show a reduction in %OAE and %OAT. These results demonstrate that CPA did not affect behavior at the doses used in this study, while 5.7 nmol/0.1 µL RA induced impairment of memory consolidation in the EPM.

Study on the fetal cerebellar vermis using three-dimensional ultrasound VCI-C imaging / 中国基层医药

Objective To study the application value of three-dimensional transabdominal ultrasound VCI-C imaging in detection of fetal cerebellar vermis.Methods Totally 300 normal fetuses at 18 ～ 36 gestation weeks were examined by three-dimensional ultrasound VCI-C imaging to observe the fetal cerebellar vermis.Results The view of three-dimensional ultrasound VCI-C imaging well evaluated the integrity and size of vermis morphous,identified characteristic signs of vermis:the fourth ventricle apex and vermis crack.The brain stem and vermis were almost parallel in normal fetus.The angle between them was (3.89 ± 1.58)°.There was no significant relation between the gestational age and the angle.The craniocaudal diameter,anteroposte diameter and acreage of the cerebellar vermis were positively correlated with gestational age.Conclusion The three-dimensional ultrasound VCI-C imaging could help evaluate the development of the cerebellar vermis and show the information of cerebellar vermis and its surrounding structure.It offers a new method to evaluate the fetal cerebellar vermis.

Cerebellar Control of Saccades / 대한임상신경생리학회지

Saccades are rapid eye movements that shift the line of sight between successive points of fixation. The cerebellum calibrates saccadic amplitude (dorsal vermis and fastigial nucleus) and the saccadic pulse-step match (flocculus) for optimal visuo-ocular motor behavior. Based on electrophysiology and the pharmacological inactivation studies, early activity in one fastigial nucleus could be important for accelerating the eyes at the beginning of a saccade, and the later activity in the other fastigial nucleus could be critical for stopping the eye on target, which is controlled by inhibitory projection from the dorsal vermis. The cerebellum could monitor a corollary discharge of the saccadic command and terminate the eye movement when it is calculated to be on target. The fastigial nucleus and dorsal vermis also participate in the adaptive control of saccadic accuracy.

Joubert Syndrome.

Joubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.

Joubert’s Syndrome: A Case Report.

Joubert’s syndrome is an autosomal recessive congenital disorder having characteristic clinical features like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

Cerebellar vermis: topography and variations / Vermis cerebelar: topografía y variaciones

The vermis is described as the unpaired, median portion of the cerebellum to which the hemispheres are attached. Both the vermis and the hemispheres are formed by folia that, grouped together, are called lobules. The material analyzed consisted of a sample made up of 43 adult male cerebella fixed in 10 percent formaldehyde and sliced medially. The lingula was attached to the superior medullary velum in 100 percent (43) of the cerebella, varying only in size. In 80 percent (32) of the cerebella, the central lobe contained one folium; 7.5 percent (3) had two folia with the first larger than the second; 10 percent (4) had two folia with the second larger than the first; and 2.5 percent (1) had two folia of equal size. In 5 percent (2) of the cerebella, the folium of the vermis emerged from the declive; in 47.5 percent (19), the folium emerged from the central white matter; and in 42.5 percent (17), the folium emerged from the tuber. There was no variation in the lobules, culmen, pyramid, uvula or nodule in the sample studied. Contrary to what many believe, the folia of the cerebellum exhibit variations in form, number and arrangement. However, these variations are virtually unreported, which often hinders the determination of the limits of these structures by students of anatomy of the cerebellum.

El vermis se describe como la parte impar, mediana del cerebelo por la que los hemisferios están conectados. Tanto el vermis como los hemisferios están formados por folium que, de forma conjunta, se llaman lóbulos. El material analizado consistió en una muestra compuesta por 43 cerebelos de hombres, adultos, fijados en formol al 10 por ciento y cortados en rodajas en sentido medial. La língula se adjuntó al velo medular superior en 100 por ciento (43) del cerebelo, y sólo varían en tamaño. En el 80 por ciento (32) del cerebelo, el lóbulo central contenía un folium, 7,5 por ciento (3) había dos folium con el primero más grande que el segundo, 10 por ciento (4) tuvo dos folium con el segundo más grande que el primero, y 2,5 por ciento (1) tenía dos folium de igual tamaño. En el 5 por ciento (2) de los cerebelos, el folium del vermis surgido del declive, en el 47,5 por ciento (19), el folium surgido de la sustancia blanca central, y en el 42,5 por ciento (17), el folium surgido del tubérculo. No hubo, en la muestra estudiada, variación en los lóbulos, culmen, pirámide, úvula o nódulo. Contrariamente a lo que muchos creen, el folium del cerebelo presentan variaciones en la forma, número y disposición. Sin embargo, estas variaciones son virtualmente inadvertidas, lo que a menudo dificulta la determinación de los límites de estas estructuras del cerebelo, por los estudiantes de la anatomía.

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.

Joubert Syndrome Associated with Leber's Congenital Amaurosis

PURPOSE: To report a case of Joubert syndrome associated with Leber's congenital amaurosis. CASE SUMMARY: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not fixate with his eyes or follow objects. Nystagmus in both eyes and moderate angle esotropia were present. Slit lamp examination and fundus examination showed no significant findings. Visual evoked potential and electroretinogram were extinguished in both eyes. The patient showed abnormal respiratory patterns, developmental delay, and hypotonia. Brain MRI showed aplasia of the cerebellar vermis, and he was diagnosed with Joubert syndrome. At 2 years of age, he was moderately able to fixate with his eyes and to crudely follow objects. Nystagmus and esotropia had diminished, but the visual evoked potential and electroretinogram still showed no response in both eyes. CONCLUSIONS: Leber's congenital amaurosis can be associated with Joubert syndrome, and children with Leber's congenital amaurosis should be evaluated for associated systemic abnormalities.