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.

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.

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.

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.

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.

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.

The potential diagnostic value of diffusion-weighted imaging in acute disseminating encephalomyelitis.

Acute disseminating encephalomyelitis (ADEM) is a treatable inflammatory, demyelinating disorder of the central nervous system. Early application of steroids has been shown to reduce morbidity, therefore, early diagnosis is highly desirable. Magnetic resonance imaging (MRI) is the imaging modality of choice for establishing the diagnosis along with the clinical presentation. The aim of this report is to show the potential diagnostic value of advanced MR techniques such as diffusion-weighted imaging (DWI), which has been found to add to the diagnostic power of MRI in the setting of demyelinating disorder, even in the absence of contrast enhancement. We report a case of ADEM in an 11-year-old boy revealing high signal intensity changes on DWI indicating elevated diffusion.

Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports.

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative. All the patients presented with seizures, behavioural change, regression of speech, dystonia and choreo-athetosis. Anti-NMDAR antibodies were detected in all patients' sera and cerebrospinal fluid (CSF). Intravenous immunoglobulin, corticosteroids and rituximab were administered at different intervals. Cases 1 and 2 made a full recovery, but case 3 has mild motor and speech delay. Patients who present with encephalopathy, seizures and movement disorders should be tested for anti-NMDAR antibodies in serum and CSF in addition to being screened for herpes simplex encephalitis.

Fluid-fluid level in Langerhans cell histiocytosis of the skull.

We present a case of solitary eosinophilic granuloma in the skull of a 6-year-old Saudi boy. This osteolytic lesion has fluid-fluid level on CT and MRI. We are presenting a rare radiological finding of eosinophilic granuloma.

Role of diffusion-weighted MRI in Neuro-Behcet`s disease.

We report the findings on serial diffusion-weighted MRI in a 29-year-old male with neuro-Behcet`s disease. Initial T2-weighted and fluid-attenuated inversion recovery images showed a hyperintense lesion in the brain stem. The lesion showed slight hyperintensity on diffusion-weighted images with no evidence of diffusion restriction on apparent diffusion coefficient maps. A follow up study after 7 months showed complete resolution of the brain stem lesion. Our findings indicate that diffusion-weighted imaging is a useful tool to differentiate acute exacerbation of neuro-Behcet`s disease from acute infarction, and therefore it helps in selecting the appropriate therapy.

Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis.

INTRODUCTION: We describe a family with two first-degree cousins who presented with similar phenotypes characterized by neonatal intracranial hemorrhage and subsequent onset of thrombosis. PATIENTS/METHODS: We enrolled the two affected patients, five unaffected family members and fifty-five normal controls. Clinical, laboratory, and radiological characteristics of patients were obtained. Exome sequencing was performed for the older affected child. PROC c.811 C>T was genotyped by PCR in patients, family members, and controls. Protein C amidolytic activity and antigen were measured using the STACHROM® protein C kit and ELISAs. To define functional abnormalities caused by the patients' mutation, recombinant wildtype protein C and its mutants R229W, R229Q and R229A were studied. RESULTS: For the two cousins, protein C amidolytic activity was 61% and 59% and antigen was 57% and 73% (nl 70-140%), respectively. Exome sequencing revealed a homozygous variant in exon 9 of the protein C (PROC) gene c.811 C>T (R229W). The R229W mutation is located in the calcium binding loop of protein C's protease domain that mediates thrombomodulin interactions. Recombinant R229W-protein C mutant was strikingly defective in rate of activation by thrombin: thrombomodulin, suggesting an in vivo deficit in these children for generation of activated protein C. CONCLUSIONS: These cases emphasize that protein C and activated protein C are important in maintaining the integrity of the brain vascular endothelium in humans. Moreover, routine protein C assays utilizing snake venom protease fail to detect protein C mutants that are resistant to thrombin:thrombomodulin activation.

Radiological management of cerebrospinal fluid rhinorrhea.

Cerebrospinal fluid (CSF) rhinorrhea results in high morbidity and mortality if left untreated. Surgical intervention is recommended in such cases; however, success is dependent on correct diagnosis and precise localization of leak site. Imaging plays a very essential and indispensable role. Imaging also plays a very important role in identifying the cause of leak and planning surgery. The radiological investigations used in evaluation of CSF rhinorrhea evolved over time from simple tests to very sophisticated and highly accurate procedures. Correct diagnosis and localization of leak depends on proper selection and adequate technique of radiological examinations. Sound knowledge in the current radiological investigations for CSF rhinorrhea, including the yield, indications, contraindications, complications, and selection, is essential for both treating physician and radiologist.