Quiste epidermoide intraventricular. Presentación de un caso / Intraventricular epidermoid cyst. A case report

RESUMEN Fundamento: El tumor epidermoide es una lesión benigna que representa cerca del 1 % de las neoplasias intracraneales, su origen es embrionario y son frecuentes en la línea media. Objetivo: Presentar un caso poco frecuente de un quiste epidermoide dentro del cuarto ventrículo, que debutó con hidrocefalia en un paciente de la quinta década de la vida. Presentación clínica: Paciente blanco, masculino, de 49 años que debutó con cefalea, vértigos e inestabilidad para la marcha. Al examen físico neurológico se encontraba consciente, con manifestaciones de un síndrome cerebeloso vermiano. Los estudios de tomografía axial computarizada y de resonancia magnética nuclear simple y contrastada demostraron una lesión homogénea, redondeada con poca captación de contraste, dentro del cuarto ventrículo acompañada de una hidrocefalia triventricular. La estrategia quirúrgica se orientó primero a colocar una derivación ventrículo peritoneal y en un segundo momento se realizó el tratamiento quirúrgico directo a la lesión a través de una craniectomía medial de fosa posterior. Después de la durotomía se observó la lesión nacarada, de aproximadamente 2 cm de diámetro, encapsulada que permitió su resección completa y el restablecimiento de la circulación del líquido cefalorraquídeo. El paciente evolucionó favorablemente con recuperación total de sus manifestaciones clínicas y sin secuelas. Conclusiones: Los quistes epidermoides, aunque predominan en la línea media son muy raros dentro del sistema ventricular. La resonancia magnética es el estudio de elección, el diagnóstico positivo es histopatológico y la resección quirúrgica completa permitieron la curación del enfermo.

ABSTRACT Background: Epidermoid cyst is a benign lesion that represents about 1 % of intracranial neoplasms, of embryonal origin and frequent in the media line. Objective: To present a rare case of an epidermoid cyst within the fourth ventricle in a patient who had hydrocephalus in the fifth decade of life. Clinical report: 49 years old, white male patient, who presented headache, dizziness and gait instability. He was conscious when neurologic physical examination, with appearances of a cerebellar vermis syndrome. Computed axial tomography also simple and contrasted nuclear magnetic resonance imaging studies showed a homogeneous, rounded lesion with low contrast acquisition, within the fourth ventricle, accompanied by triventricular hydrocephalus. The surgical strategy was first oriented to place a ventricle-peritoneal shunt, then direct surgical treatment of the lesion through a posterior fossa medial craniotomy. After dural surgery, a pearly lesion was observed, approximately 2 cm diameter, encapsulated, which allowed its complete resection and the reestablishment of cerebrospinal fluid circulation. The patient evolved positively with total recovery of his clinical manifestations and without any sequela. Conclusions: Epidermoid cysts, although predominant in the media line are very rare within the ventricular system. Magnetic resonance imaging is the choice study, the positive histopathological diagnosis and complete surgical resection allowed the patient to be cured.

Papiloma coroideo atípico en paciente de la tercera edad: Revisión bibliográfica a propósito de un caso / Atypical choroidal papilloma in an elderly patient: A literature review on a case

Introducción: Los tumores del plexo coroideo son raros. Contabilizan del 0,3 a 0,6% de la totalidad de los tumores cerebrales en adultos y del 10 a 20% en infantes; en quienes se ha registrado el 70% de estos y de los cuales al menos un 50% suceden en menores de dos años de edad. Objetivos: Esta publicación consiste en describir un caso de la tercera edad con papiloma atípico del cuarto ventrículo, la forma de resolución seleccionada y revisar la bibliografía del tema. Presentación del caso: Masculino de 71 años de edad que consulta por inestabilidad en la marcha y cefalea holocraneana intermitente. Al examen se muestra desorientado, con trastornos mnésicos, marcha magnética e incontinencia urinaria. Se realiza TC contrastada y posterior RM de cerebro con gadolinio objetivándose lesión espacio ocupante hipo-isointensa de 10 cc. Aprox. ocupando el 4to ventrículo, con realce intenso a la administración de contraste y ventriculomegalia asociada con edema transependimario. Intervención: Se realiza exéresis, logrando resección completa y mejoría clínica. Discusión: El papiloma atípico de plexo coroideo (Grado II) es una entidad intermedia que se distingue fundamentalmente del papiloma de grado I por su actividad mitótica; 2 o más mitosis en 10 campos. Conclusión: Este reporte, aborda una patología quirúrgicamente desafiante, potencialmente curable y clásicamente infantil, pero que también puede presentarse en la población geriátrica.

Introduction: Choroid plexus tumors are rare. They account for 0.3 to 0.6% of all brain tumors in adults and 10 to 20% in infants; in whom 70% of these have been registered and of which at least 50% occur in children under two years of age. Objectives: This publication consists of describing a case of the third age with atypical papilloma of the fourth ventricle, the selected form of resolution and reviewing the bibliography on the subject. Case presentation: 71-year-old male who consulted for gait instability and intermittent holocranial headache. On examination, he was disoriented, with memory disorders, magnetic gait, and urinary incontinence. Contrast-enhanced CT and subsequent MRI of the brain with gadolinium were performed, showing a 10 cc hypo-isointense occupying space lesion. Approx. occupying the 4th ventricle, with intense enhancement to contrast administration and ventriculomegaly associated with transependymal edema. Intervention: Exeresis is performed, achieving complete resection and clinical improvement. Discussion: Atypical choroid plexus papilloma (Grade II) is an intermediate entity that is fundamentally distinguished from grade I papilloma by its mitotic activity; 2 or more mitoses in 10 fields. Conclusion: This report addresses a surgically challenging pathology, potentially curable and classically infantile, but which can also occur in the geriatric population.

Meningioma of the Fourth Ventricle: Literature Review

Meningiomas are among the most common central nervous system tumors, with an incidence that ranges from 15% to 40% of intracranial tumors. Of these, only 0.5% to 3% are intraventricular, and the rarest of them occurs in the fourth ventricle. Fourth-ventricle meningiomas originate generally fromthe choroid plexus and have no dural adhesions. Most often, they manifest in young patients, around 41 years of age, with a possible predominance in females, through intracranial hypertension and cerebellar syndromes. The treatment consists of surgical resection, which commonly presents good results due to the characteristics of the tumor. So, for better preoperative planning, the radiological differentiation of the most frequent tumors in this location is important. Themost common histologic subtypes are fibroblastic and meningothelial, both grade I according to the World Health Organization (WHO), although there are reports of tumors of grades II and III. We report a case ofmeningioma of the fourth ventricle operated in our institution, and we have conducted a literature review, through which we found that 57 cases have been reported so far, with the first one reported in 1938.

Bruns Syndrome Caused by Intraventricular Neurocysticercosis: Literature Review

Bruns syndrome is one of the clinical presentations of intraventricular neurocysticercosis, and it is characterized by episodes of headache, vertigo and vomiting. The intraventricular form of neurocysticercosis occurs in 7% to 20% of the cases, and it is more serious than the intraparenchymal form. The management is primarily surgical, associated with pharmacological therapy with anthelmintic drugs and corticosteroids. We report the case of a patient who presented Bruns syndrome due to neurocysticercosis.

Epidermoid Cyst of the IV Ventricle: Case Report

Epidermoid cysts constitute congenital, benign and rare lesions, corresponding to 0.2% to 1.8% of all intracranial tumors. Only 5% of the cases are located in the fourth ventricle. Despite their genesis in intrauterine life, they are usually diagnosed between the third and fifth decades of life due to their very slow growth pattern. The image weighted by the diffusion of the magnetic resonance is essential to establish the diagnosis. The ideal treatment consists of emptying the cystic content with complete capsule resection. In the present work, we report the case of a 31-year-old female with cerebellar syndrome that evolved with intracranial hypertension. The symptomatology was due to an obstructive hydrocephalus by an epidermoid cyst located inside the fourth ventricle, which was confirmed by the pathological anatomy.

Choroid Plexus Carcinoma in Adults: Two Case Reports

Choroid plexus tumors are uncommon brain tumors that primarily occur in children. Most of these tumors originate from the intraventricular area, and the most common clinicalpresentation is increased intracranial pressure. Dissemination through the cerebrospinal fluid space is the inevitable natural course of the disease. Here, we present 2 rare cases of adult choroid plexus carcinoma (CPC), each with distinct clinical presentation and progression. The first case was a 40-year-old male who presented with multiple intraventricular masses. After surgical biopsy, radiation and intrathecal chemotherapy failed to elicit any response. The patient progressed with spinal cord dissemination and expired 1 year later. The second case presented with visual disturbance, and brain MRI revealed a large ovoid juxtaventricular mass with peritumoral edema. This 49-year-old female patient underwent craniotomy for what was thought to be a high-grade glioma; however, the mass was connected to the choroid plexus at the operative field. Her pathology specimen was diagnosed as CPC, and adjuvant systemic chemotherapy was administered. She has now been free of recurrence for 10 months. The description of the presentation and progression of these rare adult-onset CPC provides insight for the diagnosis and treatment of other rare instances of choroid plexus tumors.

Found at Old Age and Continuously Growing WHO Grade II Fourth Ventricle Ependymoma: A Case Report

A 74-year-old woman presented with a month-long nausea and vomiting, then she could not take a meal. She had found an asymptomatic 4th ventricular mass 6 year ago as a preoperative work-up for ovarian cancer. And during the yearly follow-up, the mass had grown continuously over 6 years, and caused symptoms in the seventh year. MRI revealed a large ovoid extra-axial mass in the fourth ventricle compressing adjacent medulla and cerebellum. Surgery achieved near total resection since the tumor tightly adhered to the brain stem of 4th ventricle floor. The histological diagnosis was ependymoma (WHO grade II). She transferred rehabilitation facility for mild gait disturbance, hoarseness and swallowing difficulty. Fourth ventricle ependymoma in the elderly is extremely rare and the growth rate has not been reported. Here, we present a rare care of 4th ventricle ependymoma found asymptomatic at elderly but continuously grow to cause local pressure symptoms.

Lateral Ventricular Meningioma Presenting with Intraventricular Hemorrhage

A 35-year-old female visited emergency department for a sudden onset of headache with vomiting after management for abortion at local department. Neurological examination revealed drowsy mentality without focal neurological deficits. CT showed 3.2×3.4 cm hyperdense intraventricular mass with intraventricular hemorrhage. The intraventricular hemorrhage was found in lateral, 3rd, and 4th ventricles. MRI showed well enhancing intraventricular mass abutting choroid plexus in the trigone of the right lateral ventricle. CT angiography showed tortuous prominent arteries from choroidal artery in tumor. Her neurological status deteriorated to stupor and contralateral hemiparesis during planned preoperative workup. Urgent transtemporal and transcortical approach with decompressive craniectomy for removal of intraventricular meningioma with hemorrhage was done. Grossly total removal of ventricular mass was achieved. Pathological finding was meningotheliomatous meningioma of World Health Organization (WHO) grade I. The patient recovered to alert mentality and no motor deficit after intensive care for increased intracranial pressure. However, visual field defect was developed due to posterior cerebral artery territory infarction. The visual deficit did not resolve during follow up period. Lateral ventricular meningioma with spontaneous intraventricular hemorrhage in pregnant woman is very uncommon. We report a surgical case of lateral ventricular meningioma with rapid neurological deterioration for intraventricular hemorrhage.

Anomalies associées aux holoprosencéphalies à l'échographie anténatale: à propos d'une série de 11 cas à Ouagadougou (Burkina Faso)

Objectifs : décrire les anomalies associées aux holoprosencéphalies suspectées lors de l'échographie anténatale. Patients et méthodes. Il s'est agi d'une étude transversale descriptive. Nous avons inclus de façon consécutive, les cas suspects d'holoprosencéphalies diagnostiqués au cours d'échographies anténatales évolutives réalisées dans notre centre d'imagerie, entre janvier 2016 et décembre 2018, quel que soit l'âge gestationnel. Résultats : 11 cas suspects d'holoprosencéphalies ont été identifiés. Il s'agissait de formes alobaires dans huit cas et de forme semi lobaire dans trois cas. L'âge gestationnel médian lors du diagnostic était de 31 semaines d'aménorrhée [13 et 38 ans]. L'âge maternel médian était de 32 ans [23-41ans]. Il n'y avait pas de diabète maternel ou d'antécédent familial noté chez ces patientes. Les anomalies encéphaliques à type d'absence de la ligne médiane, de ventricules unique et de fusions des thalami étaient notées chez tous les foetus. Les anomalies nasales étaient présentes dans 8 cas /11, labiales dans 2 cas/11 et oculaires dans 5 cas/11. Les foetus étaient majoritairement de type féminin. On notait la présence d'autres anomalies dans 5 cas/11. Il s'agissait de néphropathie, d'anomalie fémorale et d'une communication interventriculaire. Conclusion : Malformation rare, l'holoprosencéphalie est diagnostiquée tardivement dans notre contexte. Il n'y avait pas de facteur étiopathogénique retrouvé. Les tests génétiques et l'étude du caryotype n'étaient pas disponibles dans notre contexte au cours de l'étude

Trapped Fourth Ventricle in Recurrent Acoustic Schwannoma - A Rarity

Fourth ventricular dilatation is usually seen along with tri-ventriculomegaly in patients with communicating hydrocephalus. Isolated fourth ventricular dilatation is uncommon, especially as a sequelae following infective or post hemorrhagic communicating hydrocephalus. Communicating hydrocephalus is reported in vestibular schwannoma with an incidence of 3.7 to 23.5%, but 4th ventricular dilatation following its treatment has not been reported in the literature. We report a novel case of isolated fourth ventricular obstruction following surgery for recurrent vestibular schwannoma and ventriculoperitoneal shunt placement for communicating hydrocephalus. Management strategies range from endoscopic procedures to ventricular shunt placement. We describe the surgical technique for the placement of a fourth ventricular shunt with the use of a Y connector.

Em pacientes com hidrocefalia comunicante, a dilatação do quarto ventrículo é normalmente vista acompanhada de triventriculomegalia. A dilatação do quarto ventrículo isolado é incomum, especialmente como uma sequela subsequente à hidrocefalia comunicante infecciosa ou hemorrágica. Hidrocefalia comunicante é relatada em schwannoma vestibular com incidência de 3,7 a 23,5%, mas a dilatação do quarto ventrículo subsequente ao tratamento não foi encontrada na literatura. Relatamos caso de obstrução do quarto ventrículo isolado subsequente a cirurgia para schwannoma vestibular recorrente e shunt ventriculoperitoneal para hidrocefalia comunicante. As estratégias de manejo variam de procedimentos endoscópicos a shunt ventricular. Descrevemos técnica cirúrgica para alocação de shunt do quarto ventrículo com o uso de conector Y.

Fourth Ventricular Lesions in Metastatic Gliomas: A Rare Predilection?

Over the course of five years, a total of ten cases were collected of glioma patients in whom a distant lesion at the fourth ventricle was noted. A ‘distant lesion’ was defined as a lesion with a normal appearing tissue bridge at imaging between the primary and secondary locations. Previous imaging of these patients was reviewed along with clinical history, course of therapy, and available histology. A review of the literature was performed with respect to present knowledge on patterns of glioma proliferation and dissemination. This case series is the first to describe the fourth ventricle as a location that may be prone to secondary lesions in glioma patients. Further investigation on this subject may yield deeper insights into the mechanisms by which glial tumors spread within the brain, with the hope of developing or improving therapeutic targets.

Fourth Ventricle Neurenteric Cyst Mimicking Hemangioblastoma

This report presents a case of fourth ventricle neurenteric cyst (NE cyst) mimicking hemangioblastoma, which developed in a 50-year-old woman. A tiny enhancing mural portion of the fourth ventricle in MRI suggested that the cyst was hemangioblastoma, but pathological evidence showed that the cyst was in fact NE cyst in the fourth ventricle. In order to make proper decision on to what extent of surgical resection should be done, considering every possibility in differential diagnosis might be helpful. This case reports an unusual pathology in 4th ventricle, considering the patient's age, and demonstrates that a rarer disease may share radiological features of a common disease.

Acute Cerebellitis Causing Life-threatening Brain Stem Compression and Acute Hydrocephalus: A Fatal Case Report

Acute cerebellitis is a rare inflammatory disorder that occurs most frequently in children. The typical clinical course of acute cerebellitis is benign. However, in some cases of acute cerebellitis, fulminant cerebellar swelling with obliteration of the fourth ventricle causes brain stem compression and acute obstructive hydrocephalus, which can be life-threatening and require emergent neurosurgical procedures. We describe the case of a 4-year-old girl whose acute cerebellitis caused brain stem compression, acute obstructive hydrocephalus, and death. The patient was admitted to the emergency department because of a severe headache that had persisted for 5 days. Neurological examinations revealed no specific abnormality. Brain magnetic resonance imaging (MRI) demonstrated diffuse swelling and high signal intensity lesions in the cerebellar hemispheres and vermis, obliteration of the fourth ventricle, and brain stem compression on T2-weighted images in conjunction with mild hydrocephalus. Cerebrospinal fluid (CSF) analysis revealed white blood cell and red blood cell counts of 180/mm³ and 0/mm³, respectively; protein and glucose concentrations of 263.6 mg/dL and 37 mg/dL, respectively; and negative culture results. Despite aggressive treatment, the patient developed sudden cardiorespiratory arrest on day 2. Although emergency neurosurgery was performed after cardiopulmonary resuscitation, her condition progressed to brain death, and she died on day 29. This case suggests that timely and appropriate neurosurgery should be actively considered to relieve increased intracranial pressure in the early phases of acute cerebellitis.

Collision Tumor Composed of Meningioma and Cavernoma

A true collision tumor is a rare entity composed of two histologically distinct neoplasms coinciding in the same organ. This paper reports a unique case of cerebral collision tumor consisting of two benign components. On the first hand, meningioma which is usually a benign lesion arising from the meningothelial cell in the arachnoidal membrane. On the other, cerebral cavernoma which is a well-circumscribed, benign vascular hamartoma within the brain. To our knowledge, there is no previously documented case of cerebral collision tumor consisting of two benign components. A 56-year-old Caucasian male suffered in 2002 from an atypical meningioma WHO II° located in the left lateral ventricle. Three years after the tumor extirpation, the patient suffered from a hematoma in the fourth ventricle due to a recurrently haemorrhaged cavernoma. In 2008, a recurrence of the tumor in the left lateral ventricle was discovered. Additionally, another tumor located in the quadrigeminal lamina was detected. After surgical resection of the tumor in the left lateral ventricle, the pathological examination confirmed the diagnosis of a collision tumor consisting of components of a meningioma WHO II° and a cavernoma. Postoperatively, no adjuvant treatment was needed and no tumor recurrence is discovered up to the present. A possible explanation for the collision of those two different tumors may be migration of tumor cells mediated by the cerebrospinal fluid. After 5-years of follow-up, there is no sign of any tumor recurrence; therefore, surgical tumor removal without adjuvant therapy seems to be the treatment of choice.

CPR in prone position during neurosurgery

Intraoperative cardiac arrest in usual position [prone or lateral] present a unique challenge to the anesthesiologist, where changing to supine position can result in undue delay in initiating CPR or it is not feasible due to skull being fixed and opened by the surgeon. A 25 kg girl, 6 years old, was undergoing posterior cranial fossa surgery for fourth ventricle tumor excision. She went into hemorrhagic hypovolemic cardiac arrest, despite fluid resuscitation. Immediately, CPR was started in prone position with one hand at the midthoracic spine between the scapulae. The patient had ROSC after 20 min of CPR. Our patient did not have a favorable outcome, but the resuscitation in the prone position generated sufficient cardiac output while the correction of hypovolemia and hemostasis could be achieved. We recommend that immediate initiation of CPR even in prone position is the best choice in intraoperative patients, where change in position would result in delay in chest compression or make the surgical access impossible

Meningiomas intraventriculares: reporte de 7 casos y revisión bibliográfica / Intraventricular meningiomas: report of 7 cases and bibliographic review

Introducción: Los meningiomas intraventriculares tienen una baja prevalencia. Dado su origen en plexos coroideos o tela coroidea presentan predilección por los ventrículos laterales. Suelen ser de gran tamaño al momento diagnóstico y de histología preponderantemente benigna. Materiales y Métodos: Realizamos revisión retrospectiva de historias clínicas de pacientes operados de estos tumores durante el período 1999-2014, en nuestra institución junto a una revisión bibliográfica. Resultados: Se operaron siete pacientes con meningiomas intraventriculares de los cuales seis tuvieron localización atrial, cinco fueron derechos y uno izquierdo; el caso restante corresponde a una lesión del IV ventrículo. Todos fueron de sexo femenino con edad promedio de 49 años. La presentación clínica prevalente fue cefalea, trastorno cognitivo leve y hemianopsia homónima en los tumores supratentoriales. Disfunción trigeminal y facial periférica izquierda, disfagia y ataxia troncal se observaron en la lesión del IV ventrículo. Se realizaron dos abordajes parietales, uno precuneal, tres temporales y un abordaje telovelar. En el postoperatorio, 2 pacientes presentaron hemianopsia homónima secuelar. Dos pacientes presentaron signos de atipia por lo cual recibieron radioterapia postoperatoria. Conclusión: Dada su escasa prevalencia el objetivo quirúrgico en meningiomas intraventriculares es la remoción completa con la menor morbilidad postoperatoria posible. En los casos atípicos sugerimos realizar radioterapia postoperatoria para reducir el riesgo de recidivas.

Introduction: Intraventricular meningioma’s have a low prevalence. Given its origin in choroid plexus or tela choroidea presents predilection by the lateral ventricles. They tend to be large at the time of diagnosis and predominantly benign histology. Methods: We performed retrospective review records of patients operated of intraventricular meningioma’s during the period 1999-2014 in our institution with a review of the literature. Development: We operated seven patients with these tumors, six with atrial location, five were right and one left; the remaining case corresponds to a lesion in the fourth ventricle. All were female with an average age of 49 years. The prevalent clinical presentation was headache, mild cognitive disorder and homonymous hemianopsia in supratentorial tumors. Trigeminal and peripheral left facial dysfunction, dysphagia and central ataxia were observed in the lesion of the fourth ventricle. Parieto-occipital two approaches, one interhemispheric precuneal approach, three temporal and a telovelar approach were carried out. Postoperatively, two patients had homonymous hemianopsia. Two patients presented signs of atypia which received postoperative radiation therapy.Conclusion: Given its low prevalence the surgical goal in intraventricular meningiomas is complete removal with less possible postoperative morbidity. In atypical cases we suggest to perform postoperative radiotherapy to reduce risk of recurrence.

Aspiration of coagulated hematoma in the third and fourth ventricles via paracele anterior horn puncture / 中华创伤杂志(英文版)

Intraventricular hemorrhage (IVH) is a neurological urgency with a high mortality and unfavorable prognosis. Fast removal of intraventricular blood should be considered as a priority. The current treatments of IVH mainly focus on external ventricular drain and endoscopic aspiration, but neither way can remove the blood in the fourth ventricle easily and relieve the compression of brainstem. Here we report a unique procedure to solve this problem. A 41-year-old male patient who had suffered sudden attack of headache and disturbance of consciousness for 2 h was diagnosed as having high density lesion in the whole ventricular system by computed tomographic (CT) imaging. An emergent bilateral ventriculopuncture and intraventricular hematoma removal under non-line-of-sight was performed immediately; the catheter was extended to the fourth ventricle to maximally remove the hematoma. Postoperative CT scan demonstrated total removal of IVH and no sign of extra brain damage.

Chordoid Glioma with Intraventricular Dissemination: A Case Report with Perfusion MR Imaging Features

Chordoid glioma is a rare low grade tumor typically located in the third ventricle. Although a chordoid glioma can arise from ventricle with tumor cells having features of ependymal differentiation, intraventricular dissemination has not been reported. Here we report a case of a patient with third ventricular chordoid glioma and intraventricular dissemination in the lateral and fourth ventricles. We described the perfusion MR imaging features of our case different from a previous report.

Central Apogeotropic Direction Changing Positional Nystagmus due to Fourth Ventricle Mass Mimicking Horizontal Canal Cupulolithiasis Benign Paroxysmal Positional Vertigo / 대한평형의학회지

In some dizzy patients the apogeotropic direction changing positional nystagmus (DCPN) can be caused by a central disorder such as a mass lesion near the fourth ventricle or infaction. We have recently encountered a patient who showed a central DCPN mimicing a horizontal canal cupulolithiasis benign paroxysmal positional vertigo (BPPV). A 4.1 cm sized tumor was filling the fourth ventricle before the operation. When the head was turned to the left side vigorous right beting nystagmus was found. When the head was turned to the right side vigorous left beting nystagmus was found. But unlinke the typical horizontal canal BPPV, bowing and lying down position did not elicit any nystagmus. In order to see if the central DCPN was a transient finding or a persistent finding, we checked the nystagmus 3 weeks after the first testing. The same pattern of nystagmus was found again. The video head impulse test gain of all six canals were within the normal limit. In this article we discuss the points how to suspect a central DCPN in such cases.

A Case of Joubert Syndrome Accompanied with Retinal Abnormality

PURPOSE: Joubert syndrome is a rare disorder which affects the cerebellum and the brain stem. Herein, we report a case of Joubert syndrome accompanied with retinal abnormality. CASE SUMMARY: A 9-year-old female visited our hospital with chief complaints of low vision in both eyes, nystagmus, and lack of gaze movement. The best-corrected visual acuity in her right eye was 20/80 and in the left 20/80 and heterotropia was not observed. She appeared to have incomplete total color blindness on the color vision test. The anterior segment test showed no abnormal findings other than diffuse pigmentation and degeneration of the peripheral retina, vascular attenuation, and pale optic disc in both eyes on fundus examination. The patient showed overall developmental delay and decreased muscle tension, but genetic and congenital metabolic disease tests were normal. The molar tooth sign of the midbrain, defect in the lower part of the cerebellum and dilatation of the fourth ventricle were observed on magnetic resonance imaging. CONCLUSIONS: Appropriate evaluation of retinitis pigmentosa and visual function should be performed in Joubert syndrome patients.