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Introduction High-resolution computed tomography (HRCT) scans of the temporal bone are used to assess the bony erosion of the middle-ear structures whenever cholesteatoma is suspected. Objective To study the differences in HRCT Hounsfield unit (HU) index measurements of middle-ear bony structures between an ears with and without cholesteatoma. Methods A retrospective study of 59 patients who underwent surgery due to unilateral cholesteatoma. The HRCT HU index of the scutum, of three middle-ear ossicles, of the lateral semicircular canal (LSCC), and of the fallopian canal was measured in both ears. A comparison was made between the cholesteatoma and the non-cholesteatomatous ear (control). All measurements were conducted by an otolaryngologist. To assess the interobserver bias, 10% of the samples were randomly and independently assessed by another otolaryngologist and a neuroradiologist who were blinded. Results The average HU index was lower in the ear with cholesteatoma when compared with the non-cholesteatomatous ear. While the differences were statistically significant regarding the measurements of the scutum (516.02 ± 311.693 versus 855.64 ± 389.999; p = 0.001), the malleus (1049.44 ± 481.765 versus 1413.47 ± 313.376; p = 0.01), and the incus (498.03 ± 264.184 versus 714.25 ± 405.631; p = 0.001), the differences in the measurements of the LSCC (1042.34 ± 301.066 versus 1154.53 ± 359.609; p = 0.69) and of the fallopian canal (467.19 ± 221.556 versus 543.51 ± 263.573; p = 0.108) were not significantly different between both groups. The stapes was immeasurable in both groups due to its small size. Conclusion Hounsfield unit index measurements are a useful tool that may aid in the diagnosis of early-stage cholesteatoma.

Purpose: To evaluate the role of the ophthalmologist in the management of children with arterial stroke, at presentation and during follow-up. Methods: This retrospective case series comprised children with arterial stroke who were followed for at least 12 months in a tertiary pediatric medical center in 2005-2016. Demographic data and findings on radiological neuroimaging and ophthalmological and neurological examination were retrieved from the medical files. Results: The cohort included 26 children with stroke. Underlying disorders included metabolic syndrome (n = 5, 19.2%), cardiac anomaly or Fontan repair (n = 3 each, 11.5%), vascular anomaly (n = 3, 11.5%), head trauma with traumatic dissection (n = 3, 11.5%), and hypercoagulability (n = 1, 3.8%); in eight patients (30.8%), no apparent cause was found. Eleven patients (42.3%) had a non-ophthalmological neurological deficit as a result of the stroke. Eye examination was performed in nine patients (34.6%) during follow-up. Ophthalmological manifestations included hemianopic visual field defect in seven patients (7.7%) and complete blindness and poor visual acuity in one patient each (3.8%). At the last visit, no change in visual function was detected. Conclusion: The variable etiology and presentation of pediatric stroke may mask specific visual signs. Children with arterial stroke should be referred for early ophthalmological evaluation and visual rehabilitation.

Background Erdheim–Chester disease (ECD), a rare inflammatory myeloid neoplasm, is known to be fundamentally reliant on the constitutive activation of the MAPK signaling pathway in the majority of patients. Consequently, inhibition of the V600E-mutant BRAF kinase has proven to be a safe and efficacious long-term therapeutic strategy for BRAF-mutant ECD patients. Nevertheless, in a subset of patients with CNS disease, the efficacy of long-term treatment may diminish, facilitating suboptimal responses or disease progression. Methods We retrospectively describe 3 BRAF-mutant ECD patients whose treatment with Vemurafenib was upgraded to Vemurafenib/Cobimetinib due to either disease progression, insufficient response, or unacceptable toxicity. CNS response to therapy was evaluated using magnetic resonance imaging (MRI) and extra-cranial disease was monitored using 18F-fludeoxyglucose positron emission tomography/computed tomography (PET/CT). Results Three patients with a mean age of 52.6 years were treated with Vemurafenib for a mean duration of 26.6 months (range: 6–52). Monotherapies were upgraded to Vemurafenib/Cobimetinib dual therapy. The combination therapy was administered for a mean duration of 21 months (range: 19–23). All patients exhibited clinical and neurological improvement. Regression of lesions on MRI was noted in 2 patients. Both patients characterized by a PET-avid disease responded to the biological treatment regimen with complete metabolic remissions. Conclusion Dual inhibition of BRAF and downstream MEK may be a safe and effective therapeutic strategy for BRAF-mutant ECD patients for whom BRAF inhibitor therapy proved insufficient and as such appropriate for the long-term management of CNS disease in ECD.

To report the 10-year experience of two tertiary medical centers with children presenting with proptosis due to an intraorbital space-occupying lesion. Patients were identified by file review. Data were collected on demographics, findings on ophthalmologic and imaging evaluations, etiology, treatment, and outcome. Nineteen children (7 male) were included. Eleven patients had optic nerve glioma, including 9 with substantially decreased visual acuity. Treatment consisted of chemotherapy alone or with radiation, resection or anti-VEGF agents, MEK inhibitor, or observation only (n = 1). Visual and cosmetic outcomes were poor in all cases. Outcome for arteriovenous malformations was good following corticosteroid treatment (n = 1), but catheterization led to persistent proptosis and fluctuating visual acuity (n = 1). Compound capillary hemangioma (n = 1) was treated with laser and systemic beta blockers with satisfactory results. Rhabdomyosarcoma had a good prognosis in one patient treated with resection and radiation but was fatal in another even after chemotherapy. Juvenile xanthogranuloma, frontal bone osteoma, and localized hypertrophic neuropathy of the supraorbital nerve (n = 1 each) were treated by resection with good visual and cosmetic outcomes. Proptosis accompanied by visual loss is an uncommon presentation in children and suggests an orbital tumor. We found that visual outcome was better when the nerve was not involved by tumor. Optic nerve glioma was the most common cause and failed to respond to various treatments. Catheterization for arteriovenous malformation did not prevent proptosis, and final visual acuity fluctuated. Surgery for rhabdomyosarcoma and xanthogranuloma led to remission with preservation of vision in 2 of 3 cases.

Background/AimsBenign positional vertical opsoclonus in infants, also described as paroxysmal tonic downgaze, is an unsettling phenomenon that leads to extensive work-up, although benign course has been reported in sporadic cases. We describe long-term follow-up of a series of infants with the phenomenon.MethodsThis retrospective cohort included all infants diagnosed with rapid downgaze eye movement in 2012–2015 and followed until 2016. The databases of two medical centres were retrospectively reviewed. Benign positional vertical opsoclonus was diagnosed based on clinical findings of experienced neuro-ophthalmologists. Data were collected on demographics, symptoms and signs, neuro-ophthalmological and neurological evaluations, and outcome. Imaging studies were reviewed. Main outcome measures were long-term outcome and findings of the thorough investigation.ResultsThe cohort included six infants. All infants were born at term. Age at presentation was several days to 12 weeks. Episodes lasted a few seconds and varied in frequency from ConclusionsOur identification of six patients in only 3 years suggests benign positional vertical opsoclonus may be more prevalent than previously described. In our experience, it affects otherwise healthy infants and resolves spontaneously. In view of the good long-term outcome, a comprehensive clinical investigation may not be necessary.

BACKGROUND The need for an extensive evaluation for neuroblastoma in children with Horner syndrome is controversial. METHODS A retrospective study design was used. The cohort included 47 children with anisocoria who were diagnosed with Horner syndrome and 135 children with neuroblastoma evaluated at a pediatric medical center between 2007 and 2015. To detect neuroblastoma, patients with Horner syndrome underwent brain and cervical MRI, abdominal ultrasound, and/or measurement of urinary vanillylmandelic acid (VMA). The neuroblastoma group was evaluated for signs/symptoms of Horner syndrome at the time of diagnosis. RESULTS Seven patients with Horner syndrome were lost to follow-up, and the findings of the remaining 40 were categorized according to the age of the patient. Horner syndrome most frequently was idiopathic (58%), and in only 1 patient did the discovery of neuroblastoma precede the appearance of Horner syndrome. In the 21 patients aged 1-18 years, Horner syndrome was acquired in 15 patients and congenital in 6. The most common etiology was trauma (62%). Imaging was performed in 14 patients and VMA testing in 13. Neuroblastoma was diagnosed in 5 patients; in none was it related to Horner syndrome. In the 135 patients with neuroblastoma, most of the tumors were diagnosed at Stage 4 (60%) or Stage 3 (30%) with 53% originating in the abdomen. In one patient (0.74%) with signs/symptoms of Horner syndrome at diagnosis of neuroblastoma, the tumor had been identified prenatally and the diagnosis confirmed by imaging postnatally. CONCLUSIONS The absence of occult neuroblastoma in children with Horner syndrome and of signs/symptoms of Horner syndrome in the children diagnosed with neuroblastoma suggests that Horner syndrome might not be as frequent a cause of neuroblastoma as previously thought. We recommend that full investigation for neuroblastoma be reserved for suspicious cases associated with additional systemic signs or symptoms.

INTRODUCTION: Gadolinium-based contrast agents (GBCAs) are routinely used in MRI studies performed for evaluation of brain tumors. Recent studies have demonstrated, progressively increased signal intensity in the globus pallidus (GP) and dentate nucleus (DN) on T1-weighted brain images obtained in patients undergoing repeated MR studies. Linear GBCAs result in more retention and longer time of retention than macrocyclic GBCAs. The aim of this study is to evaluate changes in signal intensity ratios of the GP and the DN on unenhanced T1-weighted images after multiple administrations of macrocyclic GBCAs in brain tumor patients. METHODS: The study included 37 patients with primary brain tumors who had more than 3 MRI evaluations (range: 4–10 studies). Ten of them (27%) have not receive radiation therapy. Patients were divided into two groups: Group 1 included 24 patients who had Gadoterate meglumine (Dotarem®) enhanced MRI and group 2 included 13 patients who had Gadobutrol (Gadavist®) enhanced MRI. Median age of group 1 patients was 46 (24–69) years and of group 2 it was 56 (32–67). Two radiologists conducted a quantitative analysis of unenhanced T1-weighted images by using region of interest measurements. The difference in mean GP-to-thalamus (GP\TH) signal intensity ratio, DN-to-middle cerebellar peduncle (DN\MCP) signal intensity ratio between the first and last examinations for each patient were calculated. RESULTS: In both groups GP \TH Ratio difference was greater than 0 (Gadavist 0.08 ± 0.06, Dotarem 0.02 ± 0.08 [P=0.035]) following multiple MRI examinations. There was no significant change in DN\MCP ratio in both groups (Gadavist 0.02 ± 0.07, Dotarem -0.01 ± 0.08 [P=0.230]). CONCLUSION: A significant increased GP\Thal ratio is associated with multiple administrations of both macrocyclic agents, but to a greater extent with administration of Gadavist possibly reflecting the difference in elimination and stability of both contrast agents. Further studies are needed to identify clinical implications, if any, of these findings.

INTRODUCTION: Gadolinium-based contrast agents (GBCAs) are routinely used in MRI studies performed for evaluation of brain tumors. Recent studies have demonstrated, progressively increased signal intensity in the globus pallidus (GP) and dentate nucleus (DN) on T1-weighted brain images obtained in patients undergoing repeated MR studies. Linear GBCAs result in more retention and longer time of retention than macrocyclic GBCAs. The aim of this study is to evaluate changes in signal intensity ratios of the GP and the DN on unenhanced T1-weighted images after multiple administrations of macrocyclic GBCAs in brain tumor patients. METHODS: The study included 37 patients with primary brain tumors who had more than 3 MRI evaluations (range: 4–10 studies). Ten of them (27%) have not receive radiation therapy. Patients were divided into two groups: Group 1 included 24 patients who had Gadoterate meglumine (Dotarem®) enhanced MRI and group 2 included 13 patients who had Gadobutrol (Gadavist®) enhanced MRI. Median age of group 1 patients was 46 (24–69) years and of group 2 it was 56 (32–67). Two radiologists conducted a quantitative analysis of unenhanced T1-weighted images by using region of interest measurements. The difference in mean GP-to-thalamus (GP\TH) signal intensity ratio, DN-to-middle cerebellar peduncle (DN\MCP) signal intensity ratio between the first and last examinations for each patient were calculated. RESULTS: In both groups GP \TH Ratio difference was greater than 0 (Gadavist 0.08 ± 0.06, Dotarem 0.02 ± 0.08 [P=0.035]) following multiple MRI examinations. There was no significant change in DN\MCP ratio in both groups (Gadavist 0.02 ± 0.07, Dotarem -0.01 ± 0.08 [P=0.230]). CONCLUSION: A significant increased GP\Thal ratio is associated with multiple administrations of both macrocyclic agents, but to a greater extent with administration of Gadavist possibly reflecting the difference in elimination and stability of both contrast agents. Further studies are needed to identify clinical implications, if any, of these findings.

Aim This study aims to describe our experience of unique pediatric neurological cases and associated difficulty in differentiating posterior reversible encephalopathy syndrome (PRES) from hypoxic–ischemic insult (HII), and acute toxic leukoencephalopathy (ATL). Methods The study included three children with a clinical picture suggestive of PRES, HII, and ATL of different etiologies who were diagnosed and treated at a tertiary pediatric medical center in 2011 to 2014. Results All patients presented with blindness following seizures with asphyxia/aspiration in a syndromatic child, too-rapid lipid infusion in a child with acute lymphoblastic leukemia, and repeated vomiting in a child with cerebral palsy, hydrocephalus, and malfunction of ventriculoperitoneal shunt. All patients had cortical blindness and high-signal foci in the cortical and subcortical regions on magnetic resonance imaging. All children improved. Conclusions Familiarity with the clinical and radiological characteristics of neurological conditions leading to reversible cortical blindness is essential for diagnosis and management. Distinguishing PRES from HII and ATL can be challenging. Our cases most likely combined these etiologies, with the first patient diagnosed with PRES with HII, the second with PRES with ATL, and the third with focal HII. Given the diversity of the findings and the unclear prognostic significance, studies of the pathophysiology of PRES are warranted.

Falls from heights are the most common traumatic event associated with emergency department visits in children. This study investigated the incidence and clinical course of cranial neuropathies caused by falls from heights in children. The computerized records of a tertiary pediatric medical center were searched for all patients admitted to the emergency department in 2004–2014 with a head injury caused by falling from a height. Those with cranial neuropathies involving optic and eye-motility disturbances were identified, and their clinical, imaging, and outcome data were evaluated. Of the estimated 61,968 patients who presented to the emergency department during the study period because of a fall, 18,758 (30.3 %) had head trauma. Only 12 (seven boys, five girls, average age 6.7 years) had a visual disturbance. Eight were diagnosed with traumatic optic neuropathy, one after a 6-month delay, including two with accompanying cranial nerve (CN) III injuries. Five patients had anisocoria or an abnormal pupillary response to light at presentation, one patient had CN VI paralysis and temporary vision loss, and one patient had an isolated CN III injury diagnosed on follow-up. Visual improvement varied among the patients. Cranial neuropathies due to falls from heights are rare in children and are associated with high visual morbidity. Vision or ocular motility impairment, especially monocular vision loss, may be missed during acute intake to the emergency department, and a high index of suspicion is needed. Assessment of the pupillary response to light is essential.

Finglimod, a sphingosine 1-phosphate receptor modulator, is the first orally administered therapy approved for prophylaxis in multiple sclerosis (MS). Several reports in the last two years suggested that it might be associated with severe augmentation of disease activity upon initiation or discontinuation of therapy. We present an MS patient who developed a giant cavitating brain lesion under fingolimod and in whom cessation of therapy was associated with a very active course. Brain biopsy revealed the lesion to be due to an active demyelinating inflammatory process. With the current wave of immunosuppressive treatments for MS, there is a need to be vigilant to side effects and risks not identified in large multicenter trials, collect the data and set guidelines and precautions for present and future medications.

The sestamibi scan (MIBI) and ultrasound (US) are used for preoperative localization of parathyroid adenoma (PTA), with sensitivity as high as 90%. We developed 4-dimensional magnetic resonance imaging (4D MRI) as a novel tool for identifying PTAs. Eleven patients with PTA were enrolled. 4D MRI from the mandible to the aortic arch was used. Optimization of the timing of image acquisition was obtained by changing dynamic and static sequences. PTAs were identified in all except 1 patient. In 9 patients, there was a complete match between the 4D MRI and the US and MIBI, as well as with the operative finding. In 1 patient, the adenoma was correctly localized by 4D MRI, in contrast to the US and MIBI scan. The sensitivity of the 4D MRI was 90% and after optimization, 100%. Specificity was 100%. We concluded that 4D MRI is a reliable technique for identification of PTAs, although more studies are needed.

The aim of the study was to investigate the incidence of nystagmus at diagnosis in children with optic pathway glioma involving the chiasm and hypothalamus.Twenty-two patients with a measurable optic pathway/hypothalamic glioma (without neurofibromatosis-1) were followed in our center from 2001 to 2013. The medical files were retrospectively reviewed for demographic and clinical findings, and the imaging scans, for tumor characteristics.There were 9 boys and 13 girls of mean age 3.5 ± 4.4 years at diagnosis; 15 were aged2 years. Tumor size ranged from 10 × 6 mm to 62 × 29 mm. Mean duration of follow-up was 8.3 ± 5.4 years. Nystagmus was detected at diagnosis in 10 children (45%), all2 years old (66.6% of the younger group); no child older than 2 years presented with nystagmus. Nystagmus, once present, did not resolve and continued throughout follow-up. There were no cases of new onset of nystagmus during follow-up in the children in whom it was not detected at diagnosis. Treatment consisted of partial resection/biopsy with/without shunting (n = 13) and chemotherapy (n = 19) with (n = 2) or without adjuvant radiation. Of the 22 children, 6 had a radiographic response to treatment, 8 remained stable, and 8 (all of whom received chemotherapy) showed disease progression despite treatment.In conclusion, monocular nystagmus is a more common presenting sign of optic pathway/hypothalamic glioma in children2 years old than previously estimated. Although subtle, nystagmus has a very narrow differential diagnosis, and its presence should raise suspicions of a chiasmal tumor with prompt referral for imaging. The visual prognosis is moderate to poor.

Parainfectious optic neuritis may appear at any age. The aim of our report was to compare the clinical manifestations and outcomes of this form of optic neuritis between children and adults.The study sample consisted of all patients diagnosed with parainfectious optic neuritis evaluated by 2 neuro-ophthalmology services between 2005 and 2012. Data were collected retrospectively from the medical files. Findings were compared between patients aged 0-18 years and 19 years or older.Ten children (50% female) and 8 adults (50% female) met the study criteria. Mean duration of follow-up was 29.4 months (range, 2-72 months) in the pediatric group and 14.2 months (range, 5-80 months) in the adult group. Respective rates of bilateral disease were 50% and 38%, and all patients had optic disc swelling. The associated pathogen was identified in 60% of the pediatric group, mainly Mycoplasma pneumoniae, and 75% of the adult group, in which no microorganism predominated. The interval from the febrile illness to symptom onset was 6 days (range, 1-14 days) in the pediatric group and 19.5 days (range, 14-30 days) in the adult group. Acute disseminated encephalomyelitis (ADEM) was diagnosed in 40% (4/10) of the children and none of the adults. Final visual outcome was 20/30 or better in all patients. There was a higher frequency of bilateral disease in prepubescent vs postpubescent children.Parainfectious optic neuritis is associated with a favorable visual prognosis regardless of age. Children tend to manifest visual symptoms sooner after the antecedent infectious illness and more often bilaterally and in conjunction with ADEM. The causative agent is isolated less frequently in children compared with adults.

Background In rare cases of cervical myelopathy, there may be a discrepancy between the sensory level and the site of cord lesion. This phenomenon is not well recognized. This study sought to investigate the characteristics of patients presenting with a false localizing thoracic sensory level. Methods The databases of the neurology clinics of two major tertiary medical centers were reviewed for all patients who presented in 2000–2010 with a main complaint of paraparesis and a thoracic sensory level. Those whose initial thoracic magnetic resonance scan showed no spinal cord pathology were included in the study. Results Twelve patients (mean age, 52±31 years) met the study criteria. In all cases, the pathological lesion was visualized on magnetic resonance imaging of the cervical spine or brain. Eight patients had a compressive lesion of the spinal cord and 4 had demyelinating lesions. The difference between the false localizing sensory level and the level of the cervical lesion ranged from 6 to 11 segments. Conclusion Patients with a sensory thoracic level and normal findings on thoracic magnetic resonance imaging should be further evaluated with cervical spinal cord and, sometimes, brain imaging to search for potentially treatable lesions.

High grade astrocytomas and glioblastoma are the most aggressive and frequent type of primary central nervous system tumor [1]. In adults, 70% of tumors are located supratentorially, while tumors of the brainstem and cerebellum are less common. Spinal cord astrocytic tumors, of all grades, are relatively rare [2] and comprise about 35% of all intramedullary tumors [3]. The minority of these tumors are high grade astrocytomas that constitute about 3% of all intramedullary tumors [3]. The presence of synchronous non-congruent cerebral and spinal cord lesions is extremely uncommon, and the disparity of imaging characteristics of the lesions is even more misleading. The use of positron emission tomography (PET)-CT scanning in the evaluation of these lesions pointed toward a diagnosis of primary central nervous system tumors and indicated that the spinal area had a highly active metabolic level indicative of a malignant etiology. Considering the differential diagnosis in this patient the fludeoxyglucose (FDG) PET scan (Fig. 1) proved valuable as a diagnostic clue and as an indicator of the biopsy site that would most likely render an informative tissue sample. This kind of targeting is highly important in lesions like those found in our patient where tissue diagnosis is particularly risky [4–7]. The disparity in the imaging characteristics of the brainstem and spinal cord tumors as well as the fact that only the spinal lesion showed high FDG uptake indicates that the tumor grade may differ in the two lesions and that the brainstem tumor may be of a lower grade. Yet, following treatment with concurrent radiotherapy and temozolomide the brainstem lesion showed clear response on the first follow-up imaging still suggestive of a high grade glioma.

Background To compare preoperative CT/MRI based predictions with real surgical findings for deep lobe parotid gland surgery. Methods The study analyzed 122 parotidectomies (2004–2014) for benign tumor removal. The facial nerve, the Utrecht line, the Conn’s arc, and the retromandibular vein were used as landmarks for CT/MRI presurgical evaluation of patients. We assessed 106 CT images and 86 MRI images. The study compared preoperative evaluation of tumor location with its actual location that was revealed during the operation and assessed the importance of the landmarks. Results In general, the agreement between preoperative CT prediction and actual location of the parotid tumors was achieved in 88.7 % (n = 94/106) when facial nerve line was used as a landmark. However, out of 14 tumors in the deep lobe only 5 were located correctly (35.7 %). Of the other existing CT landmarks, none showed more precision over others. The agreement between MRI based prediction and surgical results on actual location of the tumor was achieved in 94.2 %. Out of 12 MRI-investigated tumors in the deep lobe nine were located correctly that gives 75 % agreement with surgical results. Conclusion Our data suggests that no existing CT landmark can be accepted as completely reliable in cases when selective deep lobe parotidectomy is planned. If tumor location is suspected in the deep lobe of the gland, MRI imaging is necessary to confirm the diagnosis. An operating surgeon should be prepared that in some cases the true location of the tumor would be revealed only during surgery.