Creutzfeldt-Jakob disease presenting as psychiatric disorder: case presentation and systematic review.

Creutzfeldt-Jakob disease (CJD) is a spongiform encephalopathy caused by misfolded human prion proteins (PrP)s. Due to variability in presentation, the diagnosis may be missed in lieu of various psychiatric disorders. Our study reports on a prototypical case and psychiatric mimic for CJD, and the workup used to establish the correct diagnosis. A 54-year-old male with a past medical history of traumatic brain injury and major depressive disorder presented with chest pain. During the hospital stay, he was found to be increasingly aggressive, and behaved out of character. Further review of clinical history revealed that the patient was diagnosed with cognitive impairment and depression one year prior. The patient was agitated, poorly redirectable, and had unstable gait on neurological examination. Magnetic resonance imaging (MRI) of the brain demonstrated restricted diffusion (DWI) along the parietooccipital and temporal regions (L > R) and in the subcortical structures, including the basal ganglia and thalami, with accompanying subtle fluid attenuation inversion recovery (FLAIR) hyperintense signal abnormality in these regions, deemed as artifactual at the time. Repeat MRI brain two months later demonstrated progression of the DWI signal with ADC correlate and FLAIR findings. Cerebrospinal fluid 14-3-3 and RT-QuIC samples were positive. Upon passing a few months later, brain autopsy and Western Blot confirmed the CJD diagnosis. Literature review was conducted on PubMed to identify CJD cases initially diagnosed as psychiatric disorder. Search terms included "CJD" or "Creutzfeldt-Jakob disease" with three common psychiatric diagnoses, "Depression," "Psychosis," and "Mania." Positive EEG, MRI, PET, and CSF (including protein 14-3-3 and tau) findings for CJD were found in 66.7, 81.1, 50, and 72.7% of cases, respectively. Overall, CJD can present as a psychiatric mimic. In suspicious cases, EEG, imaging, and CSF studies should be promptly utilized to arrive at the correct diagnosis. Repeated MRI imaging is often required to help in the diagnostic process. Brain biopsy should be considered in selected cases.

Persistent mucus plugs in proximal airways are consequential for airflow limitation in asthma.

BACKGROUNDInformation about the size, airway location, and longitudinal behavior of mucus plugs in asthma is needed to understand their role in mechanisms of airflow obstruction and to rationally design muco-active treatments.METHODSCT lung scans from 57 patients with asthma were analyzed to quantify mucus plug size and airway location, and paired CT scans obtained 3 years apart were analyzed to determine plug behavior over time. Radiologist annotations of mucus plugs were incorporated in an image-processing pipeline to generate size and location information that was related to measures of airflow.RESULTSThe length distribution of 778 annotated mucus plugs was multimodal, and a 12 mm length defined short ("stubby", ≤12 mm) and long ("stringy", >12 mm) plug phenotypes. High mucus plug burden was disproportionately attributable to stringy mucus plugs. Mucus plugs localized predominantly to airway generations 6-9, and 47% of plugs in baseline scans persisted in the same airway for 3 years and fluctuated in length and volume. Mucus plugs in larger proximal generations had greater effects on spirometry measures than plugs in smaller distal generations, and a model of airflow that estimates the increased airway resistance attributable to plugs predicted a greater effect for proximal generations and more numerous mucus plugs.CONCLUSIONPersistent mucus plugs in proximal airway generations occur in asthma and demonstrate a stochastic process of formation and resolution over time. Proximal airway mucus plugs are consequential for airflow and are in locations amenable to treatment by inhaled muco-active drugs or bronchoscopy.TRIAL REGISTRATIONClinicaltrials.gov; NCT01718197, NCT01606826, NCT01750411, NCT01761058, NCT01761630, NCT01716494, and NCT01760915.FUNDINGAstraZeneca, Boehringer-Ingelheim, Genentech, GlaxoSmithKline, Sanofi-Genzyme-Regeneron, and TEVA provided financial support for study activities at the Coordinating and Clinical Centers beyond the third year of patient follow-up. These companies had no role in study design or data analysis, and the only restriction on the funds was that they be used to support the SARP initiative.

Ghost infarct core: A systematic review of the frequency, magnitude, and variables of CT perfusion overestimation.

BACKGROUND AND PURPOSE: CT perfusion (CTP) imaging is now widely used to select patients with large vessel occlusions for mechanical thrombectomy. Ghost infarct core (GIC) phenomenon has been coined to describe CTP core overestimation and has been investigated in several retrospective studies. Our aim is to review the frequency, magnitude, and variables associated with this phenomenon. METHODS: A primary literature search resulted in eight studies documenting median time from symptom onset to CTP, median estimated core size, median final infarct volume, median core overestimation of the GIC population, recanalization rates, good outcomes, and collateral status for this systematic review. RESULTS: All the studies investigated patients who underwent CTP within 6 hours of symptom onset, ranging from median times of 105 to 309 minutes. The frequency of core overestimation varied from 6% to 58.4%, while the median estimated ischemic core and final infarction volume ranged from 7 to 27 mL and 12 to 31 mL, respectively. The median core overestimation ranged from 3.6 to 30 mL with upper quartile ranges up to 58 mL. GIC was found to be a highly time-and-collateral-dependent process that increases in frequency and magnitude as the time from symptom onset to imaging decreases and in the presence of poor collaterals. CONCLUSIONS: CTP ischemic core overestimation appears to be a relatively common phenomenon that is most frequent in patients with poor collaterals imaged within the acute time window. Early perfusion imaging should be interpreted with caution to prevent the inadvertent exclusion of patients from highly effective reperfusion therapies.

Atlantoaxial instability secondary to Bartonella henselae osteomyelitis managed surgically by atlantoaxial instrumentation: A case report and systematic review.

Cat scratch disease (CSD), caused by Bartonella henselae, may atypically present with vertebral osteomyelitis. Antibiotic regimens are tailored to presentation, which is markedly variable and not well defined for any atypical disease. In cases of spinal instability, the use of antibiotics alone may not be sufficient. Atlantoaxial instability caused by osteomyelitis is a rare complication of CSD. In this report, we describe the rare case of vertebral osteomyelitis complicated by atlantoaxial instability, requiring both antibiotics and atlantoaxial fusion. We discuss our case, surgical technique, rationale, and outcome. In addition, we conducted a systematic review of the literature of vertebral osteomyelitis in pediatric secondary to B. henselae. A 2-year-old child presented with a 2-month history of irritability, fever, and rigid neck pain along with a recent history of feline exposure. Physical examination revealed cervical tenderness and decreased range of motion. Computed tomography (CT) showed osteolysis of the right C1 lateral mass and pars articularis; T1-weighted magnetic resonance imaging with contrast showed enhancement around the right C1 lateral mass. The titer for B. henselae was high. A diagnosis of cat scratch osteomyelitis with cervical instability was made, for which the patient underwent surgery with atlantoaxial fusion. Postoperative imaging demonstrated resolution of the contrast-enhanced lesion. At 6-year follow-up, the patient showed no signs of residual complications from surgical intervention with a solid fusion. Our review revealed 44 cases of pediatric CSD vertebral osteomyelitis. Conservative management with antibiotic employed in 86% while antibiotics with surgical intervention in 14% of the cases. Surgical intervention was most often in the form of incision for drainage and decompression without fusion. Average follow-up 10 months with 86% achieved complete resolution. Cervical instability caused by osteolysis is a rare complication of CSD. This can subsequently lead to vertebral instability, requiring definitive surgical intervention.

Asymmetry of the C2 pars interarticularis: a clinical anatomical study with relevance to screw placement.

PURPOSE: Potential asymmetries of the C2 posterior elements pose a problem for the spine surgeon seeking to make the best choice for spinal stabilization while reducing morbidity. METHODS: A digital caliper was used to measure the pars interarticularis height and length on left and right sides of 25 adult C2 vertebrae. The pars interarticularis was defined as the bone between the posterior most aspect of the superior articular process and the anterior most aspect of the inferior articular process of C2. Also, the C2 vertebrae from 49 patients were scanned by CT. Parasagittal images were reviewed and using the same definitions as were used for the skeletal specimens, the length and the height of the C2 pars interarticularis from both the left and right sides were measured using CT. The image slices were acquired at 3 mm intervals. The pars interarticularis height was determined on sagittal CT reconstruction, while the pars interarticularis length was calculated on the basis of the axial images. RESULTS: The lengths and the heights of the left and right pars interarticularis were compared using CTs of patients and skeletal specimens. No significant differences were found in the length and height measurements of the CT images on both sides. However, in the skeletal specimens, the left and right pars interarticularis did not differ significantly in length but differed significantly in height (p = 0.003). The mean height of the left pars interarticularis was approximately two times larger than the right in the skeletal specimens. Absolute differences were calculated between the side with the greater length and height and the side with the lesser length and height irrespective of their left-right orientations. For CT measurements, most differences in length and height between the greater pars interarticularis and lesser pars interarticularis occurred between 0 and 1 mm with each successive disparity interval yielding lower numbers. Skeletal measurements revealed a similar length disparity distribution to the CT measurements. However, height measurements in the skeletal specimens varied widely. Eight pars interarticularis specimens demonstrated a height difference between 0 and 1 mm. No dry bone pars interarticularis specimens demonstrated a height difference between 1 and 2 mm. The pars interarticularis of nine specimens demonstrated a height difference between 2 and 3 mm. Two demonstrated a height difference between 3 and 4 mm. Four demonstrated a height difference between 4 and 5 mm and two demonstrated a height difference greater than 5 mm. The greater pars interarticularis lengths and heights were combined and compared to their lesser counterparts on CT and skeletal measurements. In all measurements of this type, significant differences were found in the pars interarticularis length and height, whether measured through CT or via digital calipers. CONCLUSION: Asymmetry between the left and right C2 pars interarticularis as shown in the present study can alter surgical planning. Therefore, knowledge of this anatomical finding might be useful to spine surgeons.

Patient-reported outcome measures in spine surgery: A systematic review.

Background: Steadily increasing expenditure in the United States health-care system has led to a shift toward a value-based model that focuses on quality of care and cost-effectiveness. Operations involving the spine rank among some of the most common and expensive procedures performed in operating rooms nationwide. Patient-reported outcomes measures (PROMs) are a useful tool for reporting levels of outcome and analyzing patient recovery but are both under-utilized and nonstandardized in spine surgery. Methods: We conducted a systematic review of the literature using the PubMed database, focusing on the most commonly utilized PROMs for spine disease as well as spinal deformity. The benefits and drawbacks of these PROMs were then summarized and compared. Results: Spine-specific PROMs were based on the class of disease. The most frequently utilized PROMs were the Neck Disability Index and the modified Japanese Orthopaedic Association scale; the Oswestry Disability Index and the Roland-Morris Disability Questionnaire; and the Scoliosis Research Society 22-item questionnaire (SRS-22) for cervicothoracic spine disease, lumbar spine disease, and spinal deformity, respectively. Conclusion: We found limited, though effective, use of PROMs targeting specific classes of disease within spine surgery. Therefore, we advocate for increased use of PROMs in spine surgery, in both the research and clinical settings. PROM usage can help physicians assess subjective outcomes in standard ways that can be compared across patients and institutions, more uniquely tailor treatment to individual patients, and engage patients in their own medical care.

Multistage surgical repair for split notochord syndrome with neuroenteric fistula: case report.

Split notochord syndrome (SNS) is a rare congenital defect of the central nervous system and has been associated with several anomalies affecting multiple organ systems. One association has been communication with the gastrointestinal tract and the spine, previously identified as a neuroenteric fistula (NEF). Here, the authors describe the unique case of a female infant with SNS and NEF treated with a multistage surgical repair. The three-stage operative plan included a two-stage repair of the defect and temporary subgaleal shunting followed by delayed ventriculoperitoneal shunt placement. The infant recovered well postsurgery and over a 5-year follow-up. A case description, surgical techniques, and rationale are reported. Additionally, a systematic review of the literature utilizing the MEDLINE database was performed.Treatment of SNS with NEF using a multidisciplinary multistaged approach to repair the intestinal defect, close the neural elements, and divert cerebrospinal fluid to the peritoneum is shown to be a safe and viable option for future cases.

"Two-Birds-One-Stone" Approach for Treating an Infant with Chiari I Malformation and Hydrocephalus: Is Cerebrospinal Fluid Diversion as Sole Treatment Enough?

BACKGROUND: Chiari I malformation (CIM) is a disorder characterized by caudal displacement of the cerebellar tonsils below the foramen magnum. It is often associated with syringomyelia and occasionally with hydrocephalus. CIM is commonly treated by posterior fossa decompression with or without removal of the posterior arch of C1 and duraplasty, but the treatment for infants with symptomatic CIM is not well established. We present a case of symptomatic CIM in an infant that was successfully treated with a ventriculoperitoneal shunt (VPS) and discuss the importance of the pathophysiology in management decisions. CASE DESCRIPTION: A 6-month-old male with a CIM and a cervicothoracic syrinx presented with stridor, lower cranial nerve dysfunction, and increased tone that worsened with crying. Magnetic resonance imaging studies revealed cerebellar tonsillar displacement extending to the level of C3-C4 with a syrinx extending from C4 to T4. In addition, there was compression of the cervicomedullary junction, fourth ventricular outflow obstruction, and obstructive hydrocephalus. The decision was made to place a ventriculoperitoneal shunt (VPS) instead of performing decompressive surgery as the initial treatment intervention. The infant had significant symptomatic relief at 6-, 9-, and 12-month follow-ups. Postoperative magnetic resonance imaging at 6-month follow-up revealed resolution of the syrinx and ventriculomegaly and ascent of the cerebellar tonsils. CONCLUSIONS: Ventriculoperitoneal shunting alone was successfully used to treat an infant with concurrent CIM, syrinx, and hydrocephalus. This case underscores not only the importance of hydrocephalus as the pathogenesis of CIM in some cases but also the possibility of avoiding the morbidity of decompressive surgery in infants.

Efficacy of facial nerve-sparing approach in patients with vestibular schwannomas.

OBJECT: The goal of this article was to show that a combination of facial nerve-sparing microsurgical resection and Gamma Knife surgery (GKS) for expansion of any residual tumor can preserve good facial nerve function in patients with recurrent vestibular schwannoma (VS). METHODS: Records of individuals treated by a single surgeon with a facial nerve-sparing technique for a VS between 1998 and 2009 were retrospectively analyzed for tumor recurrence. Of the 383 patients treated for VS, 151 underwent microsurgical resection, and 20 (13.2%) of these patients required postoperative retreatment for a significant expansion of residual tumor after microsurgery. These 20 patients were re-treated with GKS. RESULTS: The rate of preservation of good facial nerve function (Grade I or II on the House-Brackmann scale) in patients treated with microsurgery for VS was 97%. Both subtotal and gross-total resection had excellent facial nerve preservation rates (97% vs 96%), although subtotal resection carried a higher risk that patients would require retreatment. In patients re-treated with GKS after microsurgery, the rate of facial nerve preservation was 95%. CONCLUSIONS: In patients with tumors that cannot be managed with radiosurgery alone, a facial nerve-sparing resection followed by GKS for any significant regrowth provides excellent facial nerve preservation rates.