Morphometric analysis of atlas lateral mass in Down syndrome cases with relevance to surgical intervention.

PURPOSE: Surgical stabilization of the Atlas vertebrae is indicated for severe atlantoaxial instability (AAI) in patients with Down syndrome (DS). This study aims to evaluate the morphological characteristics of the Atlas lateral mass (ALM) in patients with DS with regard to safe instrumentation for surgical stabilization and to compare them with non-syndromic group. METHODS: This multicenter, retrospective, case-control study included age- and sex-matched patients with and without DS aged > 7 years with a cervical computed tomography (CT) scan. After three-dimensional CT reconstruction, nine parameters were evaluated for both groups. All included measurements were performed by a neuroradiologist who was blinded to clinical data. RESULTS: Forty-three of 3,275 patients with DS were included in this study. Matching number of consecutive patients without DS were identified (mean age: 16 years). Patients with DS were significantly shorter than those without DS. Seven of nine parameters related to ALM were significantly lower in patients with DS than in those in the control group, including anterior wall height (AH), posterior wall height (PH), their ratio, and arch-ALM angle. On adjusting data for patient height, patients with DS had a smaller PH, lower PH/AH ratio, and steeper arch-ALM angle than the control group. CONCLUSIONS: Patients with DS had a smaller posterior ALM wall and a steeper arch-ALM angle than the control group without DS. This information is important for surgical planning of safe posterior ALM exposure and safe instrumentation for surgical stabilization in patients with DS.

Association between craniovertebral junction abnormalities and syringomyelia in patients with chiari malformation type-1.

OBJECTIVE: To assess the correlation between craniovertebral junction (CVJ) abnormalities and syringomyelia in patients with Chiari malformation type-1 (CM1). METHODS: This was a retrospective study including patients with CM1. Identification of cases was done by searching a radiology database at a university hospital from 2012 to 2017. Patients were divided into 2 groups based on whether CVJ abnormalities were present (CVJ+) or absent (CVJ-). The patients` demographic and clinical data were reviewed. All magnetic resonance imaging studies were examined by a certified neuroradiologist. RESULTS: Sixty-four consecutive patients with CM1 were included. The mean age was 24+/-17 years; 59% were females. The CVJ+ group had more female patients (p=0.012). The most frequent CVJ abnormality was platybasia (71%), followed by short clivus (44%) and cervical kyphosis (33%). The CVJ abnormalities were more in Syringomyelia cases (p=0.045). However, the results were not significant when hydrocephalus cases were excluded. CONCLUSION: Among CM1 patients, CVJ abnormalities were found more in patients with syringomyelia. Future studies with larger sample size are required to further study the correlation between CVJ abnormalities and both syringomyelia and hydrocephalus in CM1 patients.

Quantitative assessment of vertebral artery anatomy in relation to cervical pedicles: surgical considerations based on regional differences.

OBJECTIVE: To quantify the anatomic relationship between the Cervical pedicle screw (CPS), vertebral artery (VA), and related anatomic structures in the Saudi population. METHODS: This retrospective single center study included 50 consecutive patients (35 males) with normal neck findings on computed tomography angiography performed for trauma or vascular evaluation between 2012 and 2014. Radiologic parameters were assessed and correlated with age, weight, height, and body mass index (BMI). RESULTS: Mean age, weight, height, and BMI were 45.74+/-18.93 years, 79.72+/-21.80 kg, 164.74+/-11.53 cm, and 29.38+/-6.13 kg/m2, respectively. Mean cervical pedicle diameter (PD) increased from the cranial to caudal vertebrae (p=0.0001). Mean free zone (FZ) value, defined as the distance between the lateral CP border and medial VA border, was 1 mm (range 0.95-1.16 mm). The VA entry into the transverse foramina was at C6 level on both the right 92% and left side in most patients 94%. However, the right and left side level of VA entry differed in 14% of individuals. CONCLUSION: The PD and FZ are smaller in Saudi Arabians than in western populations. Assessment of VA entry at each level should be performed on an individual basis as the level of VA entry can differ in the same patient. Anatomic variations between different geographic areas should be studied to provide better surgical guidance.

Length of MRI signal may predict outcome in advanced cervical spondylotic myelopathy.

OBJECTIVE: To study clinical and radiological factors that may correlate with independent walking (IW) following advanced cervical spondylotic myelopathy (CSM) surgery. METHODS: A retrospective case series including all advanced CSM patients (Nurick 4 and 5) who underwent surgery from 2003-2010 in the Division of Neurosurgery, Department of Surgery, College of Medicine, King Saud University and King Khalid University Hospital, Riyadh, Saudi Arabia. Only patients with 6 months or more follow-up were included. A neuroradiologist who was blinded to the clinical data reviewed all MRI studies. RESULTS: Forty-three patients were included (83% males, mean follow-up 29 months). A better preoperative neurological status was a positive predictor of IW after surgery (85.7% Nurick 4 versus 36.4% Nurick 5, p=0.001). Independent walking was less likely in patients with the following MRI features: longer T2-weighted image (T2WI) signal changes (p=0.001), well-circumscribed T2WI signal changes (p=0.028), T1WI hypointensity (p=0.001), and narrow spinal canal diameter (p=0.048). Multivariate regression revealed that both an increased T2WI signal change length and T1WI hypointensity were independent predictors. The risk of dependent walking increased by 1.35 times as the T2WI signal intensity length increased by one mm, and by 14-times with T1WI hypointensity. CONCLUSION: Regaining IW after surgery in patients with advanced CSM was less likely for cases showing MRI features of longer T2WI signal changes and T1WI hypointensity. Better baseline walking, less defined T2WI signal change, and a wider spinal canal were good prognostic factors.

Orbital Intradiploic Epidermoid Cyst: A Case Report of a Rare Entity.

Cranial epidermoid cysts are relatively rare. More frequently reported in middle-aged men with a wide variety of signs and symptoms such as headache, seizures, cerebellar and cranial nerve deficits/visual disturbance. The approach for surgical removal of the cyst depends on its size and location. In addition, a multidisciplinary team must be involved due to the common occurrence of misdiagnosis. We present the unusual age of presentation for intradiploic epidermoid cysts. A 14-year-old boy is complaining of a 2-month history of painless progressive swelling of the right eyebrow. Magnetic resonance imaging revealed an intradiploic cystic mass within the right frontal bone. The cystic mass was removed, and histological examination confirmed the diagnosis of an epidermoid cyst. This case illustrated the potential of developing intradiploic epidermoid cysts in pediatrics.

Calcified Pituitary Adenoma Mimicking Craniopharyngioma: A Case Report.

A 60-year-old woman presented with a history of a previously diagnosed sellar mass and a recent onset of severe headache, vision loss, and dizziness. The patient was found to have a large mass with curvilinear calcification on imaging. Histopathology confirmed the presence of a pituitary adenoma with abnormal acini, consistent with adenoma, and moderate amounts of granular eosinophilic cytoplasm. A detailed analysis of the patterns of calcification and the radiological morphology is crucial to distinguishing between pituitary adenoma and craniopharyngioma. Recognition of these patterns can aid in distinguishing between these conditions, providing a more accurate diagnosis and an effective treatment plan.

Case report: Durable response to ruxolitinib in a child with TREX1-related disorder.

Background: JAK inhibitors are useful in treating interferonopathies, presumably because they downregulate the JAK/STAT signaling. There are limited studies about the safety and effectiveness of using JAK inhibitors in children with TREX1-related disorders. Case presentation: We report an 8-year-old female who presented at five years of age with features suggestive of hemophagocytic lymphohistiocytosis (HLH)-like disorder. The infectious disease workup was negative. Neurological assessment was normal. A brain CT scan was performed because of headache. It showed a faint subcortical calcification at right frontal lobe and almost symmetrical calcification within the basal ganglia. Brain MRI showed bilateral symmetrical globus pallidus, high T1 signal intensities, and a few scattered nonspecific FLAIR hyperintensities in subcortical and deep white matter. IVIG as an immune modulating agent was administered initially which led to the resolution of fever, improvement of blood count parameters, inflammatory markers, and normalization of liver enzymes. The child remained afebrile with no significant events for several months, then had disease flare up. The patient was started on pulse methylprednisolone 30 mg/kg for three days, then continued on 2 mg/kg. Whole exome sequencing revealed a novel heterozygous missense TREX1 mutation NM_016381.3:c.223G > A p.(Glu75Lys). The child was started on ruxolitinib, 5 mg orally twice daily. The child has prolonged, durable remission after initiating ruxolitinib with no adverse effects. Steroids were tapered off and the patient is no longer on IVIG. The patient is still on ruxolitinib for more than two years. Conclusion: This case highlights the potential role of ruxolitinib in the treatment of TREX1-related disorders. A longer follow-up period is required to evaluate the long-term outcome.

Ipsilateral Hemispheric Brain Atrophy in an Asymptomatic Child With Linear Morphea: A Case Report.

Scleroderma is a family of systemic and local diseases that tighten and harden the skin and other connective tissues. Local scleroderma (i.e., morphea) typically involves the skin and underlying tissue causing progressive functional and cosmetic disturbances. While the etiology of scleroderma is unknown, it is correlated with autoimmune dysfunction. Linear morphea is a disorder that primarily affects children. This report describes the case of a nine-year-old girl with skin eruptions in the forehead, near the left eye, and in the anterior neck in addition to an underlying focal hemispheric frontal brain atrophy. There is no evidence of neurological deficits in this case. Linear morphea can lead to brain atrophy, causing several neurological dysfunctions such as seizures and cognitive impairment. Follow-up monitoring is critical, and also early recognition of new symptoms for optimal patient outcomes.

T2-Fluid-Attenuated Inversion Recovery (FLAIR) Mismatch as a Novel Specific MRI Marker for Adult Low-Grade Glioma (LGG): A Case Report.

Astrocytic tumors are primary central nervous system tumors. They are the most common tumors arising from glial cells. In the new WHO classification 2021, adult-type diffuse astrocytic gliomas subdivide into isocitrate dehydrogenase (IDH)-mutant astrocytoma, IDH-mutant and 1p/19q-codeleted oligodendroglioma, and IDH-wildtype glioblastoma. The T2-fluid-attenuated inversion recovery (FLAIR) mismatch sign describes the MRI appearance of IDH-mutant astrocytoma, it is considered a highly specific radiogenomic signature for diffuse astrocytoma, as opposed to other lower-grade. MRI is the first and most accurate diagnostic tool for low-grade gliomas (LGGs). It is particularly helpful in distinguishing a diffuse astrocytoma from an oligodendroglioma that will not demonstrate T2-FLAIR mismatch. The tumor displays a hyperintense signal on T2-weighted images and a hypointense signal on T2-weighted FLAIR images, which distinguishes it from other types of diffuse gliomas. We report a case of a 29-year-old female patient who was diagnosed with IDH-mutant 1p/19q-non-codeleted diffuse astrocytoma based on MRI T-2 FLAIR mismatch sign, which is confirmed by the molecular analysis in the pathology lab. Our aim of this report is to confirm the power of the MRI findings in the diagnosis of glioma genotypes and to assess neurosurgeons in the preoperative surgical planning.

Uremic Leontiasis Ossea in a Pediatric Patient.

Uremic leontiasis ossea (ULO) is a rare disease characterized by extensive thickening of the cranium, resulting in a characteristic, lion-like facial appearance. It is considered the most severe osseous complication of renal dystrophy. Although rare, ULO can occur even in young patients, which can be catastrophic, as it can not only lead to life-threatening conditions but also multiple complications that cause severe determent to the quality of life.

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.

Accuracy of Brain Computed Tomography Diagnosis by Emergency Medicine Physicians.

Objectives: The objective of this study is to prospectively analyze emergency physicians' (EP's) abilities to interpret noncontrast computed tomography (NCCT) brain images in a blinded fashion and assess whether they can make medical decisions solely based on their interpretations. Methods: A cross-sectional study was conducted at the emergency department (ED), King Saud University Medical City (KSU-MC), Saudi Arabia, over a period of one year, from May 2014 to May 2015. Any patient who underwent plain brain NCCT during the study period in our ED was included in this study. An independent attending neuroradiologist compared the EP's interpretations with the official final reports dictated by an on-call radiologist. Results: A brain NCCT prospective chart audit of 1,524 patients was interpreted by ED physicians (EP) at KSU-MC from 2014-2015. The ages of patients were between 14 and 107 years, and the mean ± SD age was 45.6 ± 22.1 years. Radiological brain lesions were confirmed by EPs and radiology physicians in 230 (15.09) and 239 (15.68) patients, respectively, out of which concordance was observed in 170 (71.13) cases, with a kappa value of r = 0.675. Normal, chronic, and nil acute reports were made by EPs and radiology physicians for 1,295 (84.97) patients and 1,285 (84.32) patients, respectively, out of which concordance was observed in 1,225 (95.33) cases, with a kappa value of r = 0.672. The study results demonstrated that the overall agreement between EPs and radiologist specialists was 91.6, with a kappa value of .675 (p < 0.001). Conclusion: Emergency physicians are moderately accurate at interpreting brain NCCT compared to radiologists. More research is needed to discover the most cost-effective technique for reducing the number of significant misinterpretations.

Solitary osteochondroma affecting the rib and adjacent vertebral body: a case with atypical radiology features.

Costal osteochondroma is an uncommon primary benign tumor. Thorough radiological and pathological examinations should be performed to avoid misdiagnosis. Herein, we describe a case of a surgically resected costal osteochondroma in 23-year-old man. The aim of this report is the value of cartilage cap on imaging, leading to a correct preoperative impression. We also present a brief review of existing literature on costal osteochondroma.

Fluid-fluid level as an atypical radiological sign of clival chordoma.

Chordoma is a rare and aggressive intracranial bone tumor that is difficult to diagnose and resect with a peak incident between the ages of 20-40 years old and high recurrence rate when not completely resected. We present the case of clival chordoma in an 11-year-old female patient, who reported with a chronic right-sided headache, progressive loss of vision, hoarseness of voice, and slurred speech. Fluid-fluid level on fluid-attenuated inversion recovery magnetic resonance imaging sequence can be an atypical radiological sign for clival chordoma. Thumbing of the pons as well as extension of the chordoma to the sinonasal, intracranial, vertebral, intraspinal, and orbital regions were observed. The patient underwent partial resection of the tumor and discharge home after by the end of the third week after the surgery. Histopathology report confirmed the diagnosis of chordoma.

Arterial Thrombosis in an Asymptomatic COVID-19 Complicated by Malignant Middle Cerebral Artery Syndrome: A Case Report and Literature Review.

Coronavirus disease 2019 (COVID-19) is a severe infectious respiratory disease caused by the novel coronavirus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Multiple studies in the literature highlight the association between COVID-19 and stroke. We report a case of acute ischemic stroke in a COVID-19 patient without displaying symptoms of active COVID-19 infection or risk factors for stroke with further review of the literature. The patient's recovery was complicated by hemorrhagic stroke, which resulted in death. Acute ischemic strokes are one of the challenging complications of COVID-19 infection. Initial rapid assessment and management are crucial in optimizing the outcomes on these patients. Nevertheless, wearing appropriate PPE should be instituted while providing adequate care.

Hip bone osteonecrosis with intraosseous pneumatosis after abdominal aortic aneurysm repair: a case of emphysematous osteomyelitis.

Intraosseous pneumatosis is a rare and often fatal condition characterised by air accumulation in the bone that may be brought about by infection, trauma (surgical or otherwise), degenerative disease or neoplastic processes. Here, we present a case of pelvic emphysematous osteomyelitis following repair of an infected abdominal aortic aneurysm. A 56-year-old Saudi male, known to have diabetes and hypertension, presented to the emergency department complaining of intermittent abdominal pain over the right lower quadrant. The patient was later diagnosed intraoperatively with an infected abdominal aortic aneurysm and treated appropriately. During multiple follow-up imaging studies, the patient was noted to have multiple intra-abdominal fluid collections, as well as intraosseous pneumatosis in the pelvis and right femur. 3 months later, intervention was again required due to patient deterioration and possible aortic graft leakage. Graft abscess was diagnosed and managed. We present a case of an infected abdominal aortic aneurysm that eventually led to emphysematous osteomyelitis of the pelvis. This case report sheds light on intraosseous pneumatosis and emphysematous osteomyelitis, which is characterised by the former, in addition to signs of an underlying infection or abscess formation.

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1-related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing impairment, midfacial hypoplasia, and arthropathy. However, some children have primarily ocular disease with mild or no extraocular features. Such children can remain undiagnosed unless suspicion is raised by the ophthalmologist. METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome type collagenopathy by a single ophthalmologist and able to complete genetic testing for this possibility. Suspicion was based on vitreous abnormalities and myopia or lens opacities in the setting of prior retinal detachment, hearing impairment, or facial flatness. RESULTS: Average age of the 12 identified children was 8 years old (range 3-11; five boys). Average spherical equivalent for phakic eyes was -13 (range -3.5 to -30). Nine children had lens opacities or aphakia; two with aphakia also had lens subluxation or iridodonesis. Other recurrent clinical features included flat facies (12/12), hearing impairment (5/12), and prior retinal detachment (4/12). Pathogenic variants for collagenopathy were uncovered in 10/12 children: COL11A1 (heterozygous) in six, COL2A1 (heterozygous) in two, and COL9A1 (homozygous) in two. One child was homozygous for pathogenic variation in LRPAP1. One child had no detectable gene mutations. CONCLUSIONS: Taken together, these clinical features (particularly vitreous abnormality, myopia, and lens opacity) had a high molecular yield for collagen gene mutation. Ophthalmologists who see such children should suspect Stickler syndrome, even in the absence of overt systemic disease. COL11A1-related rather than COL2A1-related autosomal dominant disease may be more common when undiagnosed children are identified based on ocular examination. Biallelic mutations in LRPAP1 can result in a phenotype that may resemble Stickler syndrome.

Effects of compressive lesions on intraoperative human spinal cord elasticity.

OBJECTIVE: Although evaluating tissue elasticity has various clinical applications, spinal cord elasticity (SCE) in humans has never been well documented. In this study, the authors aimed to evaluate the impact of compression on human SCE in vivo. METHODS: The authors prospectively assessed SCE using intraoperative shear wave elastography (SWE). All consecutive patients undergoing spinal cord (SC) decompression (laminectomy or corpectomy) between June 2018 and June 2019 were included. After intraoperative exposure of the patient's dura mater, at least three SWE measurements of the SC and its coverings were performed. Intraoperative neurological monitoring in the form of motor and somatosensory evoked potentials was utilized. Cases were divided into two groups based on the state of SC compression following bone removal (laminectomy or corpectomy): patients with adequate decompression (the decompressed SC group [DCG]) following bone removal and patients with remining compression, e.g., compressing tumor or instability (the compressed SC group [COG]). RESULTS: A total of 25 patients were included (8 females and 17 males) with a mean age of 48.28 ± 21.47 years. Most cases were degenerative diseases (10 cases) followed by tumors (6 cases), and the compression was observed at cervical (n = 14), thoracic (n = 9), and conus medullaris (n = 2) levels. The COG (6 cases) expressed significantly higher elasticity values, i.e., greater stiffness (median 93.84, IQR 75.27-121.75 kPa) than the decompressed SC in DCG (median 9.35, IQR 6.95-11.22 kPa, p < 0.001). Similarly, the compressed dura mater in the COG was significantly stiffer (mean ± SD 121.83 ± 70.63 kPa) than that in the DCG (29.78 ± 18.31 kPa, p = 0.042). Following SC decompression in COG, SCE values were significantly reduced (p = 0.006; adjusted for multiple comparisons). Intraoperative monitoring demonstrated no worsening from the baseline. CONCLUSIONS: The current study is to the authors' knowledge the first to quantitatively demonstrate increased stiffness (i.e., elasticity value) of the human SC and dura mater in response to external compression in vivo. It appears that SCE is a dynamic phenomenon and is reduced following decompression. Moreover, the evaluation of human SCE using the SWE technique is feasible and safe. Information from future studies aiming to further define SCE could be valuable in the early and accurate diagnosis of the compressed SC.

Silent Sinus Syndrome: Interesting Computed Tomography and Magnetic Resonance Imaging Findings.

Silent sinus syndrome (SSS) is the spontaneous unilateral collapse of the maxillary sinus and orbital floor with complete or partial opacification of the collapsed sinus. The key features in a patient who presents with SSS are painless progressive unilateral maxillary sinus disease in the absence of rhinosinusitis, trauma, or surgery. SSS is a rare disorder but could be under-diagnosed because of a lack of recognition. SSS is characterized by spontaneous and progressive enophthalmos ("sunken" eye-eye recession into the globe) and hypoglobus (globe displaced downward; and a drop in the pupillary level), so it is common for these patients to present first to an ophthalmologist. Although mostly observed in adults, there have been reports of SSS in children. SSS in younger individuals has characteristic clinical and radiologic signs with, in many cases, abnormal intranasal anatomic characteristics on the affected side. SSS should be differentiated from other causes of spontaneous enophthalmos, such as Parry-Romberg syndrome and linear scleroderma. The aim of this report was to alert the reader to the imaging findings in patients with SSS. This syndrome is well recognized by rhinologists and to a lesser extent to ophthalmologists but remains relatively unknown to general radiologists.

Atypical Imaging of Hemorrhagic Lumbosacral Myxopapillary Ependymoma with Histopathological Correlation: A Case Report.

BACKGROUND Spinal myxopapillary ependymoma (MPE) is a slow-growing tumor arising from ependymal cells of the central nervous system. MPE rarely presents with acute neurological compromise and most commonly occur in the filum terminale or conus medullaris region. To date, only a few cases have been reported of patients presenting acutely because of hemorrhagic MPE. CASE REPORT A 16-year-old boy without previous medical problems presented with a sudden onset of severe pain in the low back radiating to the thighs. He could not walk owing to the severity of the pain. Neurological examination revealed an unsteady gait, but the rest of the motor and sensory examination was normal. Lumbosacral spine magnetic resonance imaging revealed an intradural hemorrhagic mass extending from L5 to S2. The encapsulated hemorrhagic tumor was resected, and the pathology was consistent with MPE grade I. The patient made a significant recovery postoperatively. It is extremely rare for MPE to present with spontaneous hemorrhage in the lumbosacral region. Prompt diagnosis and management led to a favorable outcome. This case report is intended to highlight the atypical presentation and imaging features of hemorrhagic MPE. CONCLUSIONS We described a rare case of MPE in the lumbosacral region of a patient who presented with acute neurological compromise and atypical imaging features.