Tibial tuberosity-tibial intercondylar midpoint distance measured on computed tomography scanner is not biased during knee rotation and could be clinically more relevant than current measurement systems.

PURPOSE: The purpose of this retrospective cross-sectional case-control study was to evaluate an alternative imaging test for lateralization of the tibial tuberosity, unbiased towards knee rotation. METHODS: On axial CT images of 129 knees, classified as cases (two or more patellar luxations) and controls (no patellar luxations), two raters gauged the standard tibial tuberosity-trochlear groove (TT-TG) distance, tibial tuberosity-femoral intercondylar midpoint (TT-FIM) distance, and new tibial tuberosity-tibial intercondylar midpoint (TT-TIM) distance singly, and knee longitudinal rotation angles (LRAs), and the presence of femoral trochlear dysplasia (FTD) jointly. RESULTS: All imaging tests intercorrelated and discriminated between stability groups. TT-TIM had the lowest values with the highest precision. Though poorly, TT-TG and TT-FIM negatively correlated with age and LRAs regarding femur, but positively with presence of FTD, whereas TT-TIM was unbiased. The accuracy of TT-TG (> 20 mm), TT-FIM (> 20 mm), and TT-TIM (> 13 mm) was good with almost perfect reproducibility. Only TT-TIM was sex-biased (p = 0.009), with > 12 mm cut-off in females and (presumably) > 14 mm in males. CONCLUSION: TT-TIM is an alternative imaging test for lateralization of the tibial tuberosity, unbiased towards knee rotation.

Management of idiopathic normal pressure hydrocephalus (iNPH) - a retrospective study.

Background: Normal pressure hydrocephalus (NPH) is communicating hydrocephalus characterised by normal intraventricular pressures. It presents with the triad of gait impairment, cognitive decline, and urinary incontinence. The term idiopathic normal pressure hydrocephalus (iNPH) is used in cases where the etiology is unknown. The aim of this study was to assess the prevalence and management of iNPH in our institution.Method: This was a retrospective study carried out at a tertiary health care center. Retrospective case series analysis was conducted using the existing electronic medical record data (2009-2017) on patients with hydrocephalus.Results: Forty-two (6.7%) patients with iNPH were identified, mean age 71.5 ± 8.8 years, 21 male (mean age 71.5 ± 9.3 years) and 21 female (mean age 71.5 ± 8.5 years). Ataxia was recorded in 39, symptoms of dementia in 31, and urinary incontinence in 29 patients. Forty patients were treated surgically by placing a ventriculoperitoneal (VP) shunt. One of the two patients treated by endoscopic third ventriculostomy (ETV) was subsequently treated by placing a VP shunt due to clinical deterioration. Significant improvements were noticed in cognitive and urinary symptoms, in the triad symptom sum score on the Japanese NPH scale, as well as in Evans' index and callosal angle (CA) on brain MRI (p < 0.05). Significant positive correlation was found between age and gait disturbance (Spearman's rho = 49.86% p = 0.0017), age and incontinence (Spearman's rho = 35.22%, p = 0.0351), age and triad symptom sum score (Spearman's rho = 44.67%, p = 0.0056), female gender and dementia (Spearman's rho = 34.94%, p = 0.0367), and among all three variables on the Japanese NPH scale (p < 0.0001).Conclusions: Treatment of iNPH with VP shunt showed significant improvement. A properly designed study is required to address the efficacy of ETV in the treatment of iNPH.

Long-term angiographic outcome of stent-assisted coiling compared to non-assisted coiling of intracranial saccular aneurysms.

AIM: To compare angiographic result at long-term follow-up, and rates of progressive occlusion, recurrence, and retreatment of stent-assisted coiled (SAC) and non-assisted coiled (NAC) intracranial saccular aneurysms. METHODS: Retrospective evaluation of department records identified 260 patients with 283 saccular intracranial aneurysms who had long-term angiographic follow-up (more than 12 months) and were successfully treated with SAC (89 aneurysms) or NAC (194 aneurysms) at the University Hospital Center Zagreb from June 2005 to July 2012. Initial and control angiographic results in both groups were graded using Roy/Raymond scale, converted to descriptive terms, and the differences between them were evaluated for statistical significance. A multivariate analysis was performed to identify factors related to progression of aneurysm occlusion and recurrence at follow-up, and those related to aneurysm retreatment. RESULTS: There were more progressively occluded aneurysms in SAC group (38 of 89 aneurysms, 42.7%) than in NAC group (46 of 194, 23.7%) (P=0.002), but there were no significant differences in the rates of recanalization, regrowth, and stable result. Multivariate logistic regression identified the use of stent as the most important factor associated with progressive occlusion (P=0.015, odds ratio 2.22, 95% confidence interval 1.17-4.21), and large aneurysm size and posterior circulation location as most predictive of aneurysm recurrence and retreatment. CONCLUSION: The use of stent is associated with delayed occlusion of initially incompletely coiled aneurysms during follow-up, but does not reduce the rate of recurrence and retreatment compared to coiling alone. Long-term angiographic follow-up is needed for both SAC and NAC aneurysms.

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

BACKGROUND Neurodevelopmental disorders (NDD) are umbrella disorders that encompass global developmental delay (GDD), intellectual disability, autism spectrum disorders, motor developmental disorders, and sleep disorders. Both GDD and autism spectrum disorder are common and yet clinically and genetically heterogeneous disorders. Despite their high prevalence and the advent of sequencing detection methods, the genomic etiology of GDD and autism spectrum disorder in most patients is largely unknown. CASE REPORT In this study, we describe a 6-year-old girl with GDD, autistic features, and structural brain abnormalities, including a moderate reduction in periventricular white matter and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3: c.1324C>T (p.Gln442*) and KHSRP: c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. CONCLUSIONS This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.

Beware of "old" Horner syndrome.

PURPOSE: Chronic Horner syndrome is a rare clinical condition, the etiology of which often remains undiscovered. A patient is presented with an 8-year history of Horner syndrome who was diagnosed with multiple cervical artery dissections. CASE REPORT: A 42-year-old woman presented to our emergency department with a severe occipital headache that woke her up from sleep 3 days earlier. She had a history of headaches and recalled one in particular dating back to 2003. At that time, she sought medical attention at general practitioner's office because of the terrible headache and a noticeable disparity of her pupils. She was told that she had miosis of the right pupil. The examination conducted in 2011 revealed Horner syndrome with right miosis and ptosis. A four-vessel cerebral angiography revealed an occlusion of the right internal carotid artery. The morphology of stenosis and pseudoaneurysm of C1 segment of left internal carotid artery, as well as a pseudoaneurysm of V3/V4 junction of left vertebral artery indicated a probable dissective etiology. CONCLUSIONS: This case illustrates that Horner syndrome with a chronic presentation can be as potentially dangerous as its acute counterpart and should be judiciously investigated.

Endovascular treatment of AVM-associated aneurysm of anterior inferior cerebellar artery through persistent primitive hypoglossal artery.

We present a patient with the combination of persistent primitive hypoglossal artery and the origin of left common carotid artery from the brachiocephalic trunk, who had subarachnoid haemorrhage caused by a ruptured aneurysm. The aneurysm was on distal anterior inferior cerebellar artery which was a feeder to cerebellar arterio-venous malformation.

Sporadic CJD in a patient with relaplsing-remitting multiple sclerosis on an immunomodulatory treatment.

Creutzfeld-Jacob disease (CJD) is a degenerative, invariably fatal brain disorder. Multiple sclerosis (MS) is a chronic, potentially disabling, immune-mediated inflammatory demyelinating disease of the central nervous system. Here, we report a 50-year-old woman who, two years after the diagnosis of relapsing remitting MS, developed altered consciousness, dystonic posture of the left hand and myoclonic jerks. Repeated brain MRI showed hyperintensities on T2 sequences in basal ganglia bilaterally and diffusion restriction in these areas, and, since typical EEG and CSF features were present, the diagnosis of CJD was made. To the best of our knowledge, this is the first report of a glatiramer acetate-treated MS patient who developed sporadic CJD. This combination is interesting in the light of recent data suggesting that CJD and MS may share similar mechanisms of "molecular mimicry" and autoimmunity. This case also emphasizes the importance of critically assessing every new symptom even in a patient with an established diagnosis of MS.

Coexistance of cerebral sinovenous thrombosis and Dandy Walker malformation in newborn.

Cerebral sinovenous thrombosis in neonatal period may cause neurological impairment, epilepsy, and lead to stroke. It is caused primarily by coagulopathy of numerous reasons, occasionally perinatal asphyxia, traumatic delivery and hyperhomocysteinemia. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Dandy-Walker malformation, variant, and mega cisterna magna represent a spectrum of developmental anomalies. Insults to developing cerebellar hemispheres and the fourth ventricle are believed to be the cause of malformation. Our patient was born from noncomplicated pregnancy, noncomplicated nontraumatic vaginal delivery at term, excellent Apgar scores, without peculiarities in clinical status. She was brest-fed by the 42nd hour of life when she had rightsided seizures during sleep that repeated for five times in next 24 hours. Brain Ultrasound (US) revealed clot in left lateral ventricle, slight dilatation of left ventricle, both sided periventricular echodensity, ischemia, slight enlargement of forth ventricle and a bit smaller cerebellum. There was no visible flow through left transverse, superior sagittal and straight sinus. Magnetic Resonance (MRI) confirmed the finding and showed thrombosis of left and right transverse venous sinuses and confluence of sinuses. Electroencephalogram (EEG) showed leftsided focal changes. The newborn was treated with phenobarbiton for 8 days and had no convulsions during that period. All coagulation parameters, homocistein, lipoproteins (a) and D-dimers were normal. There were no mutations on FV R506Q, PT 20210A, MTHFR 677C/T. No antiphospholipides were found. Heart US showed no structural anomalies. No other patology or risk factors were present at the time. Before discharge, US showed hydrocephalus. Flow in affected sinuses was visible with color Doppler. MRI showed recanalization of affected sinuses, also hydrocephalus and presentation of Dandy Walker On EEG there was borderline finding. Due to progression of hydrocephalus ventriculo-peritoneal shunt was placed. In age of 1 year EEG was slower for age but without focus. Neurological development was normal for age. The question is whether this child had intrauterine insult and inception of Dandy Walker with further postnatal progress of thrombosis and evolution to full picture of Dandy Walker with hydrocephalus OR thrombosis that led to development of hydrocephalus and Dandy Walker malformation in this child were accidental coexistance.

Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.

It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while 1H-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women.

Symptomatic capillary telangiectasia of the pons and intracerebral developmental venous anomaly - A rare association.

Various combinations of vascular malformations of the brain in one lesion have been reported, while others seem to be very rare. In this report, the authors discuss the case of a coexistence of an capillary telangiectasia of the pons and intracerebral venous anomaly. To our knowledge, this is the first report of coexistence of a capillary telangiectasia of the pons and intracerebral venous anomaly apparted from each other. These discrete vascular malformations of the brain raise attention on possible interrelations in the pathogenesis of these entities. We report a case of pontine capillary telangiectasia and intracerebral venous anomaly in a 42-year-old woman with a right side facial palsy. Hight field magnetic resonance imaging suggested presence of a capillary telangiectasia of the pons. Another lesion in the left frontal gyrus was attributable to the venous anomaly. Along with neuroradiological findings, results of the somatosensor evoked potentials, brain stem auditory potentials, laboratory analysis including blood, cerebrospinal fluid and urine investigation are demonstrated. Awareness of the magnetic resonance imaging finding of the capillary telangiectasias and of the venous anomalies may help in defining clinical correlates of this vascular malformations, while the follow up of these malformations might help to asses risk of vascular rupture. We and others previously selects capillary telangiectasia and venous anomaly in two discrete entities. Coexistence of these malformations in the brain apparted from each other appear to be very rare and raise attention on possible interactions in their natural history and pathogenesis.

Sole stenting of large and giant intracranial aneurysms with self-expanding intracranial stents-limits and complications.

BACKGROUND: Intracranial aneurysms may be difficult for endovascular treatment due to size, fusiform shape, or wide neck. In such patients, intracranial stents are used to support the coils in the aneurysm sac, or they may be used as a sole stenting technique to divert the blood flow without coils. The aim of this paper is to contribute to the existing data by reviewing the risks of sole stenting of large and giant aneurysms. METHODS: We treated seven patients with nine aneurysms by self-expanding intracranial stents, either by a single or multiple stents in a stent-in-stent configuration. The follow-up was performed by digital subtraction angiography with a mean follow-up time of 6 months. RESULTS: A positive response to stenting occurred in five out of seven patients (71%) and six out of nine aneurysms (67%). The aneurysms were occluded in two patients, and incomplete results were noted in three patients. The symptoms due to the compression of cranial nerves resolved in four patients (57%). Procedure-related subarachnoid hemorrhage occurred in two out of seven patients (29%), with death of one patient as a result of hemorrhage (14%). CONCLUSIONS: Sole stenting of large and giant aneurysms with self-expanding intracranial stents may be associated with a higher risk than previously reported. The effect of stenting on intra-aneurysmal flow in such aneurysms, even after the placement of multiple overlapping stents, seems to be unpredictable.

Reversible Peripheral Facial Nerve Palsy During Airplane Travel.

BACKGROUND: Facial baroparesis is reversible palsy of the facial nerve that may occur due to a pressure change in the middle ear when ascending in an airplane or during scuba diving. The objective is to present a rare case of facial paresis during airplane travel.CASE REPORT: We report a 49-yr-old female patient who presented with a 30-min episode of transient right facial paresis with loss of taste during airplane travel. Brain magnetic resonance imaging (MRI) showed a small left parietal developmental venous anomaly, extensive inflammation of the paranasal sinuses, which were almost completely obstructed with thickened mucosa and mastoid cell secretion bilaterally. Nasal decongestants and antibiotics were prescribed. No new neurological signs or symptoms were noticed.DISCUSSION: Reversible facial baroparesis due to the pressure change in the middle ear should be considered in cases where present medical history includes ascent/airplane takeoff or prolonged diving and should not be mistaken for transitory ischemic attack.Mikus K, Tudor KI, Pavlisa G, Petravic D. Reversible peripheral facial nerve palsy during airplane travel. Aerosp Med Hum Perform. 2020; 91(8):679-681.

Patient with neuromyelitis optica and inflammatory demyelinating lesions comprising whole spinal cord from C2 level till conus: case report.

BACKGROUND: Neuromyelitis optica (NMO) is an idiopathic, severe, inflammatory demyelinating disease of the central nervous system, that causes severe optic neuritis and myelitis attacks. Early discrimination between multiple sclerosis (MS) and NMO is important, as optimum treatment for both diseases may differ considerably. CASE PRESENTATION: We report a case of a patient who initially presented as longitudinally extensive transverse myelitis (LETM), having spastic upper extremities diparesis and spastic paraplegia, C2/C3 sensory level and urinary incontinence, as well as extensive inflammatory spinal cord lesions from C2 level to conus. After 5 months the patient had another attack of transverse myelitis, had electrophysiological findings consistent with optic neuritis, was seropositive for NMO-IgG (aquaporin-4 IgG) and thus fulfilled NMO diagnostic criteria. Following treatment of disease attacks with pulse corticosteroid therapy and intravenous immunoglobulins, we included oral azathioprine in a combination with oral prednisone in the therapy. Since there was no significant clinical improvement, we decided to use cyclophosphamide therapy, which resulted in good clinical improvement and gradual decrease of cord swelling. CONCLUSION: In this NMO case report we wanted to emphasize the extensiveness of inflammatory spinal cord changes in our patient, from C2 level to conus. In the conclusion it is important to say that accurate, early diagnosis and distinction from MS is critical to facilitate initiation of immunosuppressive therapy for attack prevention.

Characteristics of typical and atypical meningiomas on ADC maps with respect to schwannomas.

The differences in apparent diffusion coefficient (ADC) between typical and atypical meningiomas and schwannomas were investigated, with 41 patients included in the study. There were no significant differences in ADC values or ADC ratios between typical and atypical meningiomas. The discrimination between schwannomas and the typical and atypical meningiomas on ADC maps was reliable, with significant differences in ADC values and ratios and with the narrow range of ADC values in meningiomas.

Magnetic resonance imaging and magnetic resonance spectroscopy in a patient with amyotrophic lateral sclerosis and frontotemporal dementia.

Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) have been investigated in a single neurodegenerative disease manifesting as either amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD) alone, but have not been examined in combined disorders such as ALS with FTD (ALS-FTD). To our knowledge, this study is the first attempt to demonstrate relationship between MRI abnormalities and MR spectroscopic metabolite changes of the motor cortex, frontal white matter and corticospinal tract in a patient with the diagnosis of ALS with probable upper motor neuron signs (ALS-PUMNS) and FTD. Patient presented underwent MRI of the brain and MRS. The ratio of N-acetylaspartate (NAA) to creatine (Cr), choline to Cr, myo-inositol (ml) to Cr and glutamate-glutamine (Glx) to Cr were derived from peak area measurement. Spectra from the right motor cortex, frontal white matter and corticospinal tract were obtained. MR images were evaluated for sulcus centralis enlargement, corticospinal tract hyperintensity and frontal lobes atrophy. Spectra showed reduced NAA/Cr and Glx/Cr ratio, yet the ratio of Cho/Cr exhibited significant elevation. MR images revealed sulcus centralis enlargement, high signal intensity of corticospinal tract and atrophy of both frontal lobes. Proton spectroscopic metabolic changes in a current patient fully correlate with previously reported MRS metabolic changes in ALS alone. Surprisingly, normal ml (glial marker) values have been found in almost all measured voxels of interest except in the frontal white matter. These findings differ from the previous findings in ALS or FTD alone. In conclusion, these findings support the concept that ALS, FTD and ALS-FTD may represent different manifestations of a single pathological continuum.

Smaller right hippocampus in war veterans with posttraumatic stress disorder.

Chronic stress can putatively cause damage in the human hippocampus, but evidence of damage has not been consistently shown in studies on hippocampal morphology in posttraumatic stress disorder (PTSD). We compared hippocampal volumes in PTSD patients and normal subjects. Using a 3D T1-weighted GRE magnetic resonance imaging sequence, we measured hippocampal volumes in 15 war veterans with combat-related chronic PTSD and 15 case-matched normal controls. Although war veterans, our PTSD subjects were not professional soldiers and were mobilized shortly before they were exposed to a very specific combat-related trauma over a 3-day period. In our study, the period between traumatic exposure and imaging was considerably shorter, on average, 9 years, compared with at least two decades in previous studies on subjects with combat-related PTSD. Moreover, our subjects were free of any comorbidity, treatment or medication. The right hippocampus was significantly smaller in PTSD subjects than in healthy controls. The left hippocampus was also smaller in PTSD subjects than in controls, but the difference was not significant. In all PTSD subjects, the right hippocampus was smaller than the left (on average, 7.88%). Our results show smaller volume of the right hippocampus in PTSD patients than in normal subjects.