Case series on the Charcot neuroarthropathy in hands after cervical central cord syndrome.

BACKGROUND: Charcot neuroarthropathy (CNA) of the upper extremity occurs most frequently in shoulders. However, CNA in the hands is uncommon and seldom be reported. The onset of CNA is usually insidious. If this process continues undetected, it can result in joint deformity, ulceration and/or superinfection, loss of function, and amputation or even death. In this article, we are going to present three cases of CNA in the hands of individuals with cervical spinal cord injury (SCI) with central cord syndrome. CASE PRESENTATION: Three male individuals with cervical spinal stenosis contracted tetraplegia (American Spinal Injury Association Impairment Scale Grade D, D, and B) due to spinal cord contusion after a trauma and developed hand swelling without pain 2 to 3 months after their SCI. X-ray showed degenerative joint changes in the hands. CNA was considered due to the patient's history of cervical SCI, loss of motor function and sensation, symptoms of painless swelling, physical examination, and X-ray findings. The self-care sub scores of Spinal Cord Independence Measure III improved slightly only during rehabilitation and follow-up due to poor hand function. CONCLUSIONS: CNA may develop after a central or peripheral neurological disorder. Nearly every joint of the body can be affected and the lower limbs are the most frequently involved. However, CNA of the hand is rare. We present three patients with CNA in the hands after cervical SCI and review the features and early differential diagnosis of CNA. Currently there is no specific treatment available. Therefore, early identification of CNA and adequate protection to the affected joints seem important.

Rare case of real-time observation of paralytic deterioration after cervical dislocation in the hyperacute phase.

BACKGROUND: There have been no prior reports of real-time detailed records leading to complete quadriplegia immediately after fracture dislocation in high-energy trauma. Here, we report a case of cervical dislocation in which the deterioration to complete motor paralysis (modified Frankel B1) and complete recovery (Frankel E) could be monitored in real time after reduction in the hyperacute phase. CASE PRESENTATION: A 65-year-old man was involved in a car accident and sustained a dislocation at the C5/6 level (Allen-Ferguson classification: distractive flexion injury stage IV). His paralysis gradually deteriorated from Frankel D to C 2 hours after the injury and from Frankl C to B 5 hours after the injury. His final neurological status immediately before reduction was Frankel B1 (complete motor paralysis with sensation only in the perianal region). Reduction was completed within 6 h and 5 min after injury, and spinal fusion was subsequently performed. The patient exhibited rapid motor recovery immediately after surgery, and was able to walk independently on postoperative day 14. CONCLUSIONS: This case suggests that there is a mixture of cases in which the spinal cord has not been catastrophically damaged, even if the patient has complete motor paralysis. Prompt reduction has the potential to improve neurological function in such cases.

Cortical and Subcortical Effects of Transcutaneous Spinal Cord Stimulation in Humans with Tetraplegia.

An increasing number of studies supports the view that transcutaneous electrical stimulation of the spinal cord (TESS) promotes functional recovery in humans with spinal cord injury (SCI). However, the neural mechanisms contributing to these effects remain poorly understood. Here we examined motor-evoked potentials in arm muscles elicited by cortical and subcortical stimulation of corticospinal axons before and after 20 min of TESS (30 Hz pulses with a 5 kHz carrier frequency) and sham-TESS applied between C5 and C6 spinous processes in males and females with and without chronic incomplete cervical SCI. The amplitude of subcortical, but not cortical, motor-evoked potentials increased in proximal and distal arm muscles for 75 min after TESS, but not sham-TESS, in control subjects and SCI participants, suggesting a subcortical origin for these effects. Intracortical inhibition, elicited by paired stimuli, increased after TESS in both groups. When TESS was applied without the 5 kHz carrier frequency both subcortical and cortical motor-evoked potentials were facilitated without changing intracortical inhibition, suggesting that the 5 kHz carrier frequency contributed to the cortical inhibitory effects. Hand and arm function improved largely when TESS was used with, compared with without, the 5 kHz carrier frequency. These novel observations demonstrate that TESS influences cortical and spinal networks, having an excitatory effect at the spinal level and an inhibitory effect at the cortical level. We hypothesized that these parallel effects contribute to further the recovery of limb function following SCI.SIGNIFICANCE STATEMENT Accumulating evidence supports the view that transcutaneous electrical stimulation of the spinal cord (TESS) promotes recovery of function in humans with spinal cord injury (SCI). Here, we show that a single session of TESS over the cervical spinal cord in individuals with incomplete chronic cervical SCI influenced in parallel the excitability cortical and spinal networks, having an excitatory effect at the spinal level and an inhibitory effect at the cortical level. Importantly, these parallel physiological effects had an impact on the magnitude of improvements in voluntary motor output.

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Mutations in adaptor protein complex-4 (AP-4) genes have first been identified in 2009, causing a phenotype termed as AP-4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype-phenotype correlation of the AP-4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease-causing variants in AP-4 complex subunits, using next-generation sequencing. Furthermore, by comparing genotype-phenotype findings of those affected individuals with previously reported patients, we further refine the genotype-phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP-4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings who presented with severe DEE, microcephaly, spastic tetraplegia, diffuse brain hypomyelination, cerebellar atrophy, short stature, and kyphoscoliosis. Whole exome next-generation sequencing (WES) identified in both siblings a homozygous non-sense variant in the ACTL6B gene (NM_016188:c.820C>T;p.Gln274*) coding for a subunit of the neuron-specific chromatin remodeling complex nBAF. To further support these findings, a targeted ACTL6B sequencing assay was performed on a cohort of 85 unrelated DEE individuals, leading to the identification of a homozygous missense variant (NM_016188:c.1045G>A;p.Gly349Ser) in a patient. This variant did not segregate in the unaffected siblings in this family and was classified as deleterious by several prediction softwares. Interestingly, in both families, homozygous patients shared a rather homogeneous phenotype. Very few patients with ACTL6B gene variants have been sporadically reported in WES cohort studies of patients with neurodevelopmental disorders and/or congenital brain malformations. However, the limited number of patients with incomplete clinical information yet reported in the literature did not allow to establish a strong gene-disease association. Here, we provide additional genetic and clinical data on three new cases that support the pathogenic role of ACTL6B gene mutation in a syndromic form of DEE.

Spasticity and preservation of skeletal muscle mass in people with spinal cord injury.

STUDY DESIGN: Cross-sectional OBJECTIVE: To investigate the association between skeletal muscle mass and spasticity in people with spinal cord injury (SCI). SETTING: Tertiary level hospital in Seoul, Korea METHODS: Spasticity was evaluated in 69 participants with SCI using the spasticity sum score (SSS), Penn Spasm Frequency Scale (PSFS), and Spinal Cord Assessment Tool for Spastic Reflexes (SCATS). Skeletal muscle mass was measured using a dual-energy X-ray absorptiometry scanner, and skeletal muscle index was calculated by dividing skeletal muscle mass by height squared. Laboratory parameters including hemoglobin, albumin, creatinine, fasting glucose, and cholesterol were measured. Spearman's correlation analysis was performed to assess the association between the skeletal muscle mass and spasticity scales. Multiple linear regression analysis was used to present the independent association between them. RESULTS: The participants' mean age was 41.8 years; 54 (78.3%) were male, and 46 (66.7%) were tetraplegic. Skeletal muscle index of lower extremities was significantly correlated with all spasticity scales. Spearman's correlation coefficients were 0.468, 0.467, 0.555, 0.506, and 0.474 for SSS, PSFS, SCATS clonus, SCATS flexor, and SCATS extensor with p-values < 0.001, respectively. After adjustment for age, sex, level of injury, body mass index, and serum creatinine, all spasticity scales were significantly associated with skeletal muscle index of lower extremities in multiple regression analysis. Standardized coefficients were 0.228, 0.274, 0.294, 0.210, and 0.227 for SSS, PSFS, SCATS clonus, SCATS flexor, and SCATS extensor. CONCLUSIONS: Spasticity was significantly correlated with the skeletal muscle mass even after adjusting for possible confounders. Spasticity may need to be considered as an influencing factor in interventions such as electrical stimulation to preserve skeletal muscle mass.

Cervical epidural hematoma after spinal manipulation therapy: a case report.

BACKGROUND: Cervical spinal manipulation therapy is a common non-invasive treatment for neck pain and stiffness, and has been widely used in the population. However, most people do not pay attention to the potential risks of neck manipulation, such as ligament damage, fractures, and spinal cord injuries. Epidural hematoma is a disease in which blood accumulates in the epidural space of the vertebral body. This disease is usually caused by trauma or iatrogenic surgery, and may be associated with blood coagulopathies, neoplasms, or degenerative spinal disease. Reports of epidural hematoma caused by cervical spinal manipulation are rare. CASE PRESENTATION: We present the case of a patient with tetraplegia and spinal shock after neck manipulation. A physical examination of the patient on admission found tenderness in the neck and increased muscle tension in both upper limbs. The superficial sensation of the upper limb disappeared, but the deep sensation still remained. The lower extremity had 0/5 power on both sides. The sensation below the T2 level completely disappeared. A cervical magnetic resonance imaging scan showed an acute posterior epidural hematoma from the C3-T3 vertebrae. Ultimately, the patient underwent emergency hematoma removal and showed partial improvement in symptoms of paralysis during follow-up. CONCLUSIONS: Although spinal manipulation is simple and neck pain is common and recurrent in the general population, the basic condition and disease history of patients should be determined before manipulation. For high-risk patients, caution should be applied for cervical spinal manipulation or it should be prohibited. For a suspected hematoma, MRI should be used at an early stage to diagnose and locate the hematoma.

Are midsagittal tissue bridges predictive of outcome after cervical spinal cord injury?

T2 -weighted scans provided data on the extent and dynamics of neuronal tissue damage and midsagittal tissue bridges at the epicenter of traumatic cervical spinal cord lesions in 24 subacute tetraplegic patients. At 1 month postinjury, smaller lesion area and midsagittal tissue bridges identified those patients with lower extremity evoked potentials and better clinical recovery. Wider midsagittal tissue bridges and smaller lesions at 1 month post-injury were associated with neurological and functional recovery at 1-year follow-up. Neuroimaging biomarkers of lesion size and midsagittal tissue bridges are potential outcome predictors and patient stratifiers in both subacute and chronic clinical trials. Ann Neurol 2017;81:740-748.

Magnetic resonance imaging of the upper airway in patients with quadriplegia and obstructive sleep apnea.

The aim of this study was to investigate upper airway anatomy in quadriplegics with obstructive sleep apnea. Fifty subjects were recruited from three hospitals in Australia: people with quadriplegia due to spinal cord injury and obstructive sleep apnea (n = 11), able-bodied people with obstructive sleep apnea (n = 18), and healthy, able-bodied controls (n = 19). All underwent 3-Tesla magnetic resonance imaging of their upper airway. A subgroup (n = 34) received a topical vasoconstrictor, phenylephrine and post-phenylephrine magnetic resonance imaging. Mixed-model analysis indicated no significant differences in total airway lumen volume between the three groups (P = 0.086). Spinal cord injury-obstructive sleep apnea subjects had a significantly larger volume of soft palate (P = 0.020) and retroglossal lateral pharyngeal walls (P = 0.043) than able-bodied controls. Able-bodied-obstructive sleep apnea subjects had a smaller mandible volume than spinal cord injury-obstructive sleep apnea subjects and able-bodied control subjects (P = 0.036). No differences were seen in airway length between groups when controlling for height (P = 0.055). There was a marginal increase in velopharyngeal volume across groups post-phenylephrine (P = 0.050), and post hoc testing indicated the difference was confined to the able-bodied-obstructive sleep apnea group (P < 0.001). No other upper airway structures showed significant changes with phenylephrine administration. In conclusion, people with obstructive sleep apnea and quadriplegia do not have a structurally smaller airway than able-bodied subjects. They did, however, have greater volumes of soft palate and lateral pharyngeal walls, possibly due to greater neck fat deposition. The acute response to upper airway topical vasoconstriction was not enhanced in those with obstructive sleep apnea and quadriplegia. Changes in upper airway anatomy likely contribute to the high incidence in obstructive sleep apnea in quadriplegic subjects.

Intraspinal hypotension syndrome presents as transient quadriplegia.

Intracranial hypotension can be a complication of epidural anaesthesia. Pure clinical spinal hypotension manifesting as acute transient quadriplegia following epidural anaesthesia is a severe, life-threatening complication that have not been described before. This complication can be solved with an epidural blood patch; thus, it should be familiar to doctors across all specialities.

Acute transient spinal paralysis and cardiac symptoms following an accidental epidural potassium infusion - a case report.

BACKGROUND: To describe a case of an accidental epidural potassium infusion leading to an acute transient spinal paralysis and cardiac symptoms and review the literature on that topic. CASE PRESENTATION: We report the case of an accidental infusion of 900 mg potassium chloride 7.45% (KCl) into the epidural space, which occurred during epidural analgesia in a 74-year-old patient suffering from immobilization due to lumbar back pain as well as from a paralytic Ileus. The event was resulting in vegetative symptoms, such as tachycardia and hypertension accompanied by a motor complete tetraplegia (AIS B) sub C2 with respiratory depression. The endotracheal intubation was necessary. The patient was treated with 40 mg dexamethasone intravenously, as well an epidural lavage with sodium chloride solution 0.9% (NaCl) through the epidural catheter. The neurologic symptoms completely resolved within five days. An elevation of troponin-T values and a reduced left ventricular ejection fraction (LVEF) of 40% accompanied by transient pectanginous pain were documented. An exertional dyspnea remained. CONCLUSIONS: A symptom complex with elevated sympathetic nervous system activity up to a stress cardiomyopathy is possible following epidural potassium infusion. Additionally, generalized pain and muscle spasticity evolve and a progressive acute spinal cord injury syndrome can occur within minutes, accompanied by respiratory depression. Treatment consists of early intensive care and the symptomatic therapy of the associated symptoms, leading in most of the reported cases to a good clinical outcome.

Estimating the Basal metabolic rate from fat free mass in individuals with motor complete spinal cord injury.

STUDY DESIGN: Cross-sectional study. OBJECTIVES: This study aimed to validate the existing basal metabolic rate (BMR) predictive equations that include fat free mass (FFM) as an independent variable and, based on the FFM assessment, to develop a new SCI population-specific equation. SETTING: Outpatient clinic in a general hospital. METHODS: Our study group was formed of 50 individuals with chronic motor complete SCI: 27 patients with tetraplegia and 23 with paraplegia. Both BMR and FFM values were measured by indirect calorimetry (IC) and the whole-body dual energy X-ray absorptiometry, respectively. The BMR values measured by IC were compared with the values estimated from the Cunningham equation. Multiple linear regression analysis was performed to develop a new FFM-based, BMR predictive equation. RESULTS: The mean value of BMR measured by IC was 1274.8 (s.d.=235.2) kcal day-1. The intra-class correlation coefficient (ICC) between values measured by IC and estimated from the Cunningham equation was 0.845 and the limits of agreement ranged from -30.6 to 241.3 kcal. SCI population specific BMR predictive equation was developed; BMR (kcal day-1)=24.5 × FFM (kg)+244.4. The newly developed equation showed ICC of 0.866 with the limits of agreement from -229.0 to 233.1 kcal day-1. CONCLUSIONS: A considerable bias from the BMR values measured by IC was still observed, which warrants clinical consideration when applying FFM-based BMR prediction equations to individuals with SCI.

Quadriplegia caused by an epidural abscess occurring at the same level of cervical destructive spondyloarthropathy: a case report.

BACKGROUND: Destructive spondyloarthropathy (DSA) is one of the major complications in patients undergoing long-term hemodialysis. To the best of our knowledge, an epidural abscess occurring at the level of preexisting cervical DSA has not been well described in the literature. We report a unique case of quadriplegia caused by an epidural abscess occurring at the same level of preexisting cervical DSA. CASE PRESENTATION: A 49-year-old woman was transferred to our emergency department with 5 days of sepsis, drowsy mental status, and quadriplegia below the C5 level. The patient had a medical history of hemodialysis for 10 years. Magnetic resonance imaging showed spinal cord compression by an epidural abscess at the level of preexisting cervical DSA. Blood culture revealed methicillin-sensitive Staphylococcus aureus. Infection of the arteriovenous (AV) shunt was considered as the primary focus of sepsis and pyogenic spondylitis. We performed an emergent open door laminoplasty and the vascular team debrided the infected AV shunt site. Approximately 8 months after surgery, the patient was able to perform activities of daily living somewhat independently. CONCLUSIONS: Emergent surgical decompression and intensive medical care led to successful recovery from a septic and quadriplegic state in this patient. When diagnosing a patient who has undergone long-term hemodialysis presenting with neurologic deficits, the possibility of infectious spondylitis at the same level as DSA should be considered.

Locked-in syndrome in a patient with acute obstructive hydrocephalus, caused by large unruptured aneurysm of the basilar artery (BA).

We describe a case of acute obstructive hydrocephalus as a consequence of compression of the brainstem by a large aneurysm of the basilar artery (BA) in a 62-year-old male. After the insertion of the ventriculoperitoneal shunt (VPS), we encountered the "locked-in syndrome" clinical condition. "Locked-in syndrome" is a clinical state characterized by quadriplegia and anarthria with preserved consciousness, most commonly caused by ischemia in the ventral part of pons.

Association between the bladder wall thickness and urodynamic findings in patients with spinal cord injury.

PURPOSE: To investigate whether ultrasonographic bladder wall thickness (BWT) correlates with urodynamic parameters in patients with spinal cord injury (SCI). METHODS: Two hundred and seventy-two patients with SCI were enrolled in the study. All of the patients underwent bladder ultrasonography and urodynamic study. The anterior bladder wall was measured and compared to urodynamic data. RESULTS: The mean age of the patients was 37.4 years. The mean BWT was 3.9 mm. BWT was significantly higher in the patients with neurogenic detrusor overactivity associated with detrusor sphincter dyssynergia (NDO/DSD) compared to those without sphincter dyssynergia (4.2 vs. 3.6 mm, respectively, p < 0.001) and in those with compliance <20 ml/cm H2O. Nevertheless, ROC curve analysis [ROC = 0.624, 95 % CI (0.530, 0.718), p = 0.011] showed that no meaningful BWT measurement cutoff could be made to predict an elevated detrusor pressure in the storage phase. CONCLUSIONS: Increased BWT was present in patients with low bladder compliance and NDO/DSD. No BWT cutoff value to predict an elevated detrusor pressure was found. Therefore, the measurement of BWT has no clinical role in patients with SCI and cannot replace urodynamic evaluation.

Urethral strictures in men with neurogenic lower urinary tract dysfunction using intermittent catheterization for bladder evacuation.

STUDY DESIGN: Retrospective investigation. OBJECTIVES: To investigate the occurrence, characteristics and clinical consequences of urethral strictures in men with neurogenic lower urinary tract dysfunction (NLUTD) using intermittent catheterization (IC) for bladder evacuation. SETTING: Spinal cord injury rehabilitation center. METHODS: The patient database was screened for men with NLUTD who had presented for a routine video-urodynamic investigation between 2008 and 2012. Patient characteristics, bladder diary details, the occurrence of urethral strictures and performed urethrotomy procedures were collected from patient charts. Urethral strictures were classified using the Wiegand scoring system modified for men with NLUTD. RESULTS: The occurrence rate of urethral strictures (that is, 25% confidence interval (CI) 21-30%) was significantly (P=0.0001) higher in men using IC (n=415) than in men using other bladder evacuation methods (that is, 14% CI 11-17%) (n=629). Urethral strictures had occurred after a median 5.9 years (range 0.5-48.9 years) of IC. There was no significant (P>0.08) effect of tetraplegia or catheter type on the stricture occurrence rate. Approximately one-third of the men suffering from urethral strictures underwent internal urethrotomies. The radiographic stricture severity score was not associated with the need for surgical correction of the stricture. The radiographic recurrence rate of urethral strictures in operated men was 100%, a median 14 years after the first urethrotomy. CONCLUSIONS: The occurrence rate of urethral strictures is significantly higher in men using IC than in men using other bladder evacuation methods. Every fourth men using IC may be affected by urethral strictures. However, only every third stricture may require a surgical intervention.

The value of ultrasonography and Doppler sonography in prognosticating long-term outcomes among full-term newborns with perinatal asphyxia.

BACKGROUND AND OBJECTIVE: The aim of the study was to determine the correlation of hypoxic-ischemic (HI) brain injury in full-term neonates detected via ultrasonography (USG) and blood flow parameters evaluated via Doppler sonography (DS) with long-term outcomes of mental and neuromotor development at the age of 1-year. MATERIALS AND METHODS: In total, 125 full-term neonates (78 subjects of case group and 47 subjects of control group) were studied. During the first five days of life, the subjects daily underwent cerebral USG and DS. At the age of 1-year the neuromotor condition and mental development was evaluated. RESULTS: The HI injury groups detected during USG significantly correlated with the mental development groups (r=0.3; P=0.01) and the neurological evaluation groups (r=0.3; P<0.001). In the presence of brain swelling (edema) and thalamus and/or basal ganglia (E/T/BG) injury, USG demonstrated high accuracy values when prognosticating spastic quadriparesis and severe mental development impairment in 1-year-old subjects: sensitivity - 100%, specificity - 93-100%, positive predictive value (PPV) - 60-100%, and NPV - 100%. In subjects with spastic quadriparesis, mean end-diastolic velocity (Vd) values were significantly higher (P≤0.05), and mean resistive index (RI) values were significantly lower (P<0.05) than those in subjects with normal neuromotor development. In subjects with severe mental retardation, mean Vd values in ACA were statistically significantly higher, and mean RI values in ACA and ACM were statistically significantly lower than those in subjects with normal mental development. CONCLUSIONS: Hypoxic-ischemic brain changes detected during ultrasonography and cerebral blood flow parameters associated with long-term outcomes of mental and neuromotor development at the age of 1-year.