Spastic Quadriparesis Research Articles

Epilepsy and Mental Retardation in Children with Cerebral Palsy – Bulgarian Study

Epilepsy is common in children with cerebral palsy (CP). In a group of 521 children with cerebral palsy it was found that 58% (n = 303) of the affected had epilepsy and 74.5% (n = 388) had mental retardation. We found ahigher percentage of symptomatic epilepsy in a combination of CP with mental retardation – 84.2% (n = 255), while only 15.8% (n = 48) of children with normal intellect had epilepsy. In our CP patients, the focal seizures were the most common – 34.7% (n = 181), followed by the secondary generalized 29.6% (n = 154) and the generalized seizures (tonic, clonic and generalized tonicclonic) 25.3% (n = 132), most often with early onset, with 43.5% (n = 132) of them with onset in the first year of life. The earlier onset of the epileptic seizures correlated with a more severe mental retardation. We found that symptomatic epilepsy and severe mental retardation are most common in children with spastic quadriparesis.

Mitochondrial Leukoencephalopathy in a One and Half-Year-old Boy

AbstractA one and half-year-old baby boy presented with subacute regression of milestones in all domains. On examination, he had spastic dystonic quadriparesis. Reflexes were brisk. Magnetic resonance imaging of the brain showed diffuse cavitating leukodystrophy involving bilateral periventricular white matter, centrum semiovale, and corona radiata. Magnetic resonance spectroscopy revealed a lactate peak and serum lactate levels were also elevated. Genetic studies revealed compound heterozygous autosomal recessive mutations in IBA57 gene. This case illustrates a rare mitochondrial encephalopathy called multiple mitochondrial dysfunction syndrome-3 caused by a novel IBA57 gene mutation.

Effects of a Modern Kefir on Conditions Associated with Moderate Severe Spastic Quadriparesis Cerebral Palsy.

Cerebral palsy (CP) in children constitutes a set of movement and body posture disorders caused by brain injury, which in turn is associated with a series of intestinal, respiratory, and malnutrition conditions. Twenty-four children were selected and included for the present study and subdivided into two groups: (1) children who included modern kefir (containing 12 probiotic species) in their diet; and (2) control group (not including kefir in their diet). The group supplemented with modern kefir received a beverage with multi probiotic species and the control group received commercial yogurt (which included the 2 typical lactic acid bacteria) for 7 weeks. Anthropometric variables, resting energy expenditure, presence, and diagnosis of functional digestive disorders (FDD), frequency of respiratory problems, presence of elevated C-reactive protein, differential count of leukocytes were evaluated. A significant increase in weight and height was found in the kefir group at the final time point. In addition, kefir intake promoted a significant reduction in functional constipation and stool hardness and increased the absolute value of blood lymphocytes. Since the fermented milk beverage modern kefir improves constipation, which is the most important FDD in children with CP and the nutritional and immune status, it could be considered an important strategy to improve health in these children.

Arterial Fencing: A Challenge During Complex Craniovertebral Junction Surgery

A 32-year-old woman presented with chronically progressive spastic quadriparesis. Detailed clinicoradiological evaluation led to the diagnosis of irreducible atlantoaxial dislocation and basilar invagination, with associated "kissing" carotids and an anomalous right vertebral artery (VA). Both internal carotid arteries had an abnormally tortuous course, "kissing" retropharyngeally at the level of C1-C2. The right VA became intradural at the level of C2-C3, an extremely rare anomaly-C3 segmental artery. Despite the deformed joints and the possibility of injuring the anomalous right VA during C2-C3 instrumentation, a tailored posterior-only approach was used to circumvent the arterial fence created by both vascular anomalies. The patient underwent bilateral C1-C2 joint opening and left C1-C2 joint spacer placement, followed by bilateral occipito-C3-C4 fixation. This is possibly the first reported case of a complex craniovertebral junction anomaly associated with both kissing carotids and a C3 segmental VA.

Análise da ativação muscular em crianças e adolescentes com paralisia cerebral grave

Abstract Introduction: Children and adolescents with spastic quadriparesis have a worse selective motor control, and studies with this population are still very scarce. The same is true with scientific evidence of one of the methods most used as a physiotherapeutic treatment in this population, the Bobath Concept. Objective: To evaluate spine erector muscles activation, gluteus medius and gluteus maximus, through the handling of the Bobath Concept and the sustained kneeling posture in subjects with a diagnosis of severe cerebral palsy; and to compare muscle activation with a reference group, in order to increase the reliability of this study. Methods: A cross-sectional study was carried out with 38 children and adolescents with cerebral palsy, classified by GMFCS at levels IV and V, and 20 healthy participants, aged between 3 and 18 years. They were submitted to the handling of the Bobath Concept and to the sustained kneeling posture, with muscle activation obtained by electromyography. Results: We observed significant muscle activation during handling in side-sitting, with weight transfer and without the help of another therapist, and in the sustained kneeling posture, for the erector of the spine and gluteus medius. Conclusion: The evidence from this study suggests that both the handling in side-sitting and the sustained kneeling posture cause significant muscle activation in the erector of the spine and gluteus medius for severe quadriparesis subjects, GMFCS IV and V, which can contribute to the improvement of postural control and decision-making in physical therapy practice.

Intradural Extramedullary Lesions in Cervical Spine in Neurofibromatosis

Introduction: Neurofibromatosis (NF) is isolated into three diseases: NF type 1, type 2, and schwannoma. NF type 2 could be a disorder that's found roughly in 1/25,000–33,000 births with a mutation in gene 22q11.2, and it is passed through eras in an autosomal dominant fashion. Diagnosis is made with both clinical and radiological features. A few clinical features have been characterized in conclusion counting Manchester criteria. There is a scarce number of NF type 2 patients diagnosed with cervical lesions which are 25 in number. We report a case of an intradural extramedullary cervical lesion in a patient later diagnosed with NF type 2.
 Case Report: A 30-year-old male presenting with gradual onset and progressive course of spastic quadriparesis of six months’ duration was admitted through the emergency unit. MRI spine showed intradural extramedullary masses in the right side of C4 and left side of C6. The patient underwent cervical intradural excision of two masses under general anesthesia with neuromonitoring. The tumor was sent for histopathology and reported as NF type 2.
 Conclusion: NF is a common entity, but the diagnosis of cervical mass is judicious to avoid any complication in neurological function. It further needs a multidisciplinary approach and screening modalities.

Translational and clinical pharmacology considerations in drug repurposing for X-linked adrenoleukodystrophy-A rare peroxisomal disorder.

X-linked adrenoleukodystrophy (X-ALD) is an inherited, neurodegenerative rare disease that can result in devastating symptoms of blindness, gait disturbances and spastic quadriparesis due to progressive demyelination. Typically, the disease progresses rapidly, causing death within the first decade of life. With limited treatments available, efforts to determine an effective therapy that can alter disease progression or mitigate symptoms have been undertaken for many years, particularly through drug repurposing. Repurposing has generally been guided through clinical experience and small trials. At this time, none of the drug candidates have been approved for use, which may be due, in part, to the lack of pharmacokinetic/pharmacodynamic information on the repurposed medications in the target patient population. Greater consideration for the disease pathophysiology, drug pharmacology and potential drug-target interactions, specifically at the site of action, would improve drug repurposing and facilitate drug development. Incorporating advanced translational and clinical pharmacological approaches in preclinical studies and early-stage clinical trials will improve the success of repurposed drugs for X-ALD as well as other rare diseases.

Epilepsy and Neurodevelopmental Outcomes in a Cohort of West Syndrome Beyond Two Years of Age.

ObjectiveTo determine epilepsy and neurodevelopmental outcomes beyond 2 y of age and their putative prognostic factors in children with West syndrome (WS).MethodsThis cross-sectional study was initiated after approval from Institutional Ethics Committee. A follow-up cohort of 114 children (aged ≥ 2 y) diagnosed and treated for WS at the authors' center were assessed in-person for epilepsy and neurodevelopmental outcomes using Vineland Social Maturity Scale - Malin’s adaptation for Indian children. Subsequently, age at onset, lead-time-to-treatment, etiology, and response to any of the standard therapies were analyzed as possible predictors of these outcomes.ResultsOf 114 children (mean age: 55 ± 32 mo, 91 boys), structural etiology was the predominant underlying etiology (79.8%) for WS. At 2 y of age, 64% had ongoing seizures. At the last follow-up, 76% had social quotient < 55, and 39% had cerebral palsy (spastic quadriparesis in 21%). An underlying structural etiology was associated with ongoing seizures [OR (95% CI) 3.5 (1.4–9); p = 0.008] at 2 y of age and poor developmental outcomes [OR (95% CI): 3.3 (1.3–8.9); p = 0.016]. Complete cessation of spasms with the standard therapy was significantly associated with better seizure control [OR (95% CI): 5.4 (2.3–13); p < 0.001] and neurodevelopmental outcome [OR (95% CI): 5.2 (1.8–14.9); p < 0.001].ConclusionThe majority of children with WS have a poor neurodevelopmental outcome and epilepsy control on follow-up. The underlying etiology and response to initial standard therapy for epileptic spasms have a prognostic role in predicting the neurological outcome in these patients on follow-up.

IncobotulinumtoxinA in the treatment of sialorrhea in patients with infantile cerebral palsy

Sialorrhea is a severe medical problem that is difficult to treat, which can lead to serious complications. In almost all cases, chronic sialorrhea is accompanied by a restriction of the child's contacts with peers, socialization difficulties, and a significant decrease in the quality of life. Nowadays, botulinum therapy can be an effective tool that significantly reduces sialorrhea manifestation.Oblective: to evaluate the effectiveness of Xeomin (incobotulinumtoxinA) in the treatment of sialorrhea in patients with spastic infantile cerebral palsy (ICP).Patients and methods. We enrolled 24 children with ICP (14 (58.3%) females, and 10 (41.7%) males) with various disease forms: 4 (16.6%) — with spastic hemiparesis, 6 (25.0%) — with spastic diplegia, and 14 (58.3%) — with spastic quadriparesis. IncobotulinumtoxinA injections were performed bilaterally in the parotid and submandibular salivary glands under ultrasound control at a total dose of 40-100 U (min 1.3, max 4.5 U/kg of body weight). IncobotulinumtoxinA. The Drooling Impact (DIS) and the Global Impression of Change Scale (GICS) were used 1, 3 and 6 months after IncobotulinumtoxinA injections to assess treatment effectiveness.Results and discussion. Botulinum toxin therapy resulted in a significant decrease in saliva discharge from the oral cavity 1 and 3 months after IncobotulinumtoxinA injections, which was demonstrated by a reduction in mean DIS score from 78.6±9.6 (min 62, max 95 points; 95% CI 74.6—82.7) to 48.7±6.7(min 25, max 61 points; 95% CI45.8—51.6) and 52.7±8.5points (min 22, max 65; 95% CI49.1—56.3), respectively, as well as an increase in delta GICSscore up to +1.3+0.8(min 0, max 3points; 95% CI 1.0—1.6) and +1.0+0.7points (min 0, max 3points; 95% CI 0.8—1.3), respectively. Adverse events were observed in 4patients (16.6%), which were classified as mild in 3 patients (did not require special treatment and completely stopped within six days) and moderate in 1 patient (also did not require special treatment and completely stopped within three weeks).Conclusion. In the majority (79.1%) of patients with ICP, it is possible to achieve high efficiency in reducing sialorrhea and this effect persists for at least 3 months.

Neuroprosthesis for Decoding Speech in a Paralyzed Person with Anarthria

BackgroundTechnology to restore the ability to communicate in paralyzed persons who cannot speak has the potential to improve autonomy and quality of life. An approach that decodes words and sentences directly from the cerebral cortical activity of such patients may represent an advancement over existing methods for assisted communication.MethodsWe implanted a subdural, high-density, multielectrode array over the area of the sensorimotor cortex that controls speech in a person with anarthria (the loss of the ability to articulate speech) and spastic quadriparesis caused by a brain-stem stroke. Over the course of 48 sessions, we recorded 22 hours of cortical activity while the participant attempted to say individual words from a vocabulary set of 50 words. We used deep-learning algorithms to create computational models for the detection and classification of words from patterns in the recorded cortical activity. We applied these computational models, as well as a natural-language model that yielded next-word probabilities given the preceding words in a sequence, to decode full sentences as the participant attempted to say them.ResultsWe decoded sentences from the participant’s cortical activity in real time at a median rate of 15.2 words per minute, with a median word error rate of 25.6%. In post hoc analyses, we detected 98% of the attempts by the participant to produce individual words, and we classified words with 47.1% accuracy using cortical signals that were stable throughout the 81-week study period.ConclusionsIn a person with anarthria and spastic quadriparesis caused by a brain-stem stroke, words and sentences were decoded directly from cortical activity during attempted speech with the use of deep-learning models and a natural-language model. (Funded by Facebook and others; ClinicalTrials.gov number, NCT03698149.)

Airway management in a case of gross hydrocephalus posted for tooth extraction

Hydrocephalus is a condition due to excessive accumulation of cerebrospinal fluid results in increase circumference of the head which poses challenge to anaesthesiologist in view of difficult intubation. We present a 10 year old female child with huge hydrocephalus with global milestone delay associated with quadriplegic cerebral pasly. The problems anticipated was difficult intubation due to the presence of gross hydrocephalus, spastic quadriparesis and positioning of the child for intubation. Hence vigilant perioperative assessment and planning in positioning the child for intubation helps anaesthesiologist to overcome the challenges.

White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.

Mucolipidosis type IV (MLIV; OMIM 252,650) is an autosomal recessive lysosomal disorder caused by mutations in MCOLN1. MLIV causes psychomotor impairment and progressive vision loss. The major hallmarks of postnatal brain MRI are hypomyelination and thin corpus callosum. Human brain pathology data is scarce and demonstrates storage of various inclusion bodies in all neuronal cell types. The current study describes novel fetal brain MRI and neuropathology findings in a fetus with MLIV.Fetal MRI was performed at 32 and 35weeks of gestation due to an older sibling with spastic quadriparesis, visual impairment and hypomyelination. Following abnormal fetal MRI results, the parents requested termination of pregnancy according to Israeli regulations. Fetal autopsy was performed after approval of the high committee for pregnancy termination. A genetic diagnosis of MLIV was established in the fetus and sibling. Sequential fetal brain MRI showed progressive curvilinear hypointensities on T2-weighted images in the frontal deep white matter and a thin corpus callosum. Fetal brain pathology exhibited a thin corpus callosum and hypercellular white matter composed of reactive astrocytes and microglia, multifocal white matter abnormalities with mineralized deposits, and numerous aggregates of microglia with focal intracellular iron accumulation most prominent in the frontal lobes. This is the first description in the literature of brain MRI and neuropathology in a fetus with MLIV. The findings demonstrate prenatal white matter involvement with significant activation of microglia and astrocytes and impaired iron metabolism.

Untreated primary hypothyroidism presenting as two rare syndromes

The association of chronic untreated primary hypothyroidism, delayed skeletal growth, and isosexual incomplete precocious puberty together describes Van Wyk Grumbach syndrome (VWGS). Sporadic case reports of this syndrome have been reported. Laboratory investigations reveal high levels of thyroid-stimulating hormone and delayed bone growth. VWGS has seldom been reported in a case of cerebral palsy. Here, we present the cases of two girls aged 11 years and 8 years who presented to our hospital with VWGS, one of whom was a case of spastic quadriparesis cerebral palsy. They were started on thyroxine supplements and showed favorable outcomes, thus emphasizing the importance of recognizing these rare manifestations of hypothyroidism, which on treatment show reversal to the prepubertal state.

Hurler’s disease presenting with quadriparesis and short stature

Mucopolysachharidosis are a broad spectrum of rare lysosomal storage disorder caused by deficiency of enzymes responsible for degradation of glycosaminoglycans (GAG), thus leading to accumulation of GAG in various body tissues leading to somatic and neurological manifestations. General phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, dysostosis multiplex etc. Detailed clinical and radiological evaluation and identification of type of GAG excreted in urine narrows the diagnostic possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues. Till date 14 different types of MPS including subtypes are identified. We report a case of 4 years old male child presented with short stature, spastic quadriparesis, bony abnormalities and hepatosplenomegaly without intellectual impairment.

Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Palliative Rhizotomy: A Novel Technical Application.

Spastic cerebral palsy is caused by an insult to the developing brain. Various medical and surgical procedures are used to reduce tone. To describe a novel method of magnetic resonance-guided laser interstitial thermal ablation for palliative rhizotomy. Patients treated at a single institution with percutaneous rhizotomy using magnetic resonance-guided laser interstitial thermal therapy were identified. Preoperative and postoperative Modified Ashworth Scale scores were collected as well as procedural information. Two male children (7.8 and 19 yr, respectively) with spastic quadriparesis were treated using this technique. Neither patient experienced surgical or perioperative complications, and both were discharged from the hospital within 48 h. Each of them demonstrated improvement in his Modified Ashworth Scale score with no need for retreatment for spasticity at last follow-up. These 2 cases illustrate a novel technique for treating spasticity in the setting of cerebral palsy. Further study of this technique in additional patients, and comparison with traditional methods of surgical tone reduction, are warranted.

Midline solitary osteochondroma of C2 vertebra with myelopathy in a child: A case report with review of literature

Spinal osteochondromas with neurological deficits are rare. Only 0.5% to 1% of spinal osteochondromas present with neurological dysfunction. We hereby present a case of osteochondroma of the C2 lamina with neurological deficit and unique presentation.A 10-year-old female presented with a history of severe weakness of all four limbs after a fall. Weakness had spontaneously improved over initial three days and she presented to us with mild weakness of the right upper limb about two weeks after the fall. On examination, neck movements were full and painless with spastic quadriparesis and a motor power of grade 4/5 in all four limbs with extensor plantars.On radiology, CT scan of the cervical spine showed an osseous outgrowth from the C2 lamina in the midline projecting into the spinal canal, directed superiorly toward the dens. An MRI showed spinal-cord compression with cord deformation and signal changes.She underwent en bloc excision of the tumor mass, which was severely impinging on the spinal cord. Histopathology confirmed a diagnosis of osteochondroma. At four-year follow-up, there was complete recovery with no signs of recurrence.Spinal osteochondroma is a rare but potential cause of spinal-cord compression in a child with varied presentation.

Clinical phenotype associated with TANGO2 gene mutation

The clinical picture associated with a Transport and Golgi Organization 2 (TANGO2) gene bi-allelic mutation is represented by encephalopathy and rhabdomyolysis marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy is diverse and can range from isolated language delay and cognitive impairment in a child to multiple disabilities and spastic quadriparesis. Hypothyroidism has also been frequently reported. This article presents the clinical phenotype of seven children with a TANGO2 bi-allelic mutation. The mutation was found by sequencing a panel of genes associated with rhabdomyolysis. While the clinical picture represents generalized cases, there is phenotypic variability in, for example, the degree of disability for each patient. A TANGO2 gene mutation, nevertheless, represents a serious illness with a limited life expectancy due to an unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Although the natural history of the disease presents an evolution of rhabdomyolysis triggered by infections or effort, an early diagnosis is difficult due in part to the fact that there is a lack of specific biochemical marker or identifying symptoms in the early presentation of the disease. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. In the meantime, management of the disease remains purely symptomatic.

Far Lateral Transcondylar Transtubercular Approach for Microsurgical Resection of Foramen Magnum Meningioma: Operative Video and Technical Nuances.

Surgical access to the ventral foramen magnum remains a technical challenge. With large lesions in this region compressing the brainstem and distorting the regional neurovascular relationships, formulating a surgical plan and its appropriate execution have crucial importance in achieving favorable outcomes. While the endoscopic endonasal approaches have gained increasing attention to access the clivus and the ventral brainstem, foramen magnum meningiomas are still preferred to be removed via an approach that obviates a trajectory through the nasopharyngeal mucosa. Therefore, the far lateral approach remains one of the most practical approaches for these challenging lesions. This operative video demonstrates the use of the far lateral transcondylar transtubercular approach to remove a large meningioma in the ventral foramen magnum in a 63-year-old male with progressive cervical myelopathy, presenting as spastic quadriparesis without any cranial nerve abnormality. Using a right-sided far lateral transcondylar transtubercular approach, the meningioma was exposed within the cerebellomedullary gutter engulfing the vertebral artery and distorting the course of the adjacent cranial nerves. Using the different corridors identified between the vertebral artery, spinal accessory, vagus, and hypoglossal nerves, multiple angles of attacks to the tumor were established and utilized to resect the lesion. A gross total resection was achieved and the patient was neurologically intact without any neurological deficits. This video demonstrates the importance of understanding the intricacies of neurovascular anatomy of the cervicomedullary region (i.e., the various triangles formed between these structures), and the effective use of these corridors to safely and efficiently remove a challenging ventral foramen magnum meningioma with neurovascular involvement, while preserving cranial nerve function. The surgical technique and nuances are described in a step-by-step fashion in this illustrative operative video. The link to the video can be found at: https://youtu.be/s1dFhuaRSt8 .

Resection of Foramen Magnum Meningioma through Modified Far Lateral Approach: Surgical Principles and Technical Nuances.

Objectives Safe maximal resection is the basic principle of cranial base surgery and the grade of resection is an important factor influencing the prognostic outcome. This operative video highlights the surgical principles and technical nuances in the microsurgical resection of foramen magnum meningioma (FMM). Case Description The surgery was performed in a 45-year-old lady who presented with hoarseness of voice and spastic quadriparesis (grade 4/5). On imaging, FMM with mass effect on brainstem and spinal cord was identified. The tumor was gross totally resected through modified far lateral approach with minimal occipital condyle drilling. This video demonstrates the surgical techniques of tumor resection including early devascularization, operating in the arachnoid plane to dissect the neurovascular structures, piecemeal decompression, sharp dissection to separate tumor from lower cranial nerves (LCN), identifying the brainstem veins, and resecting the lesion from tumor–brainstem interface. Postoperatively, she had significant neurological improvement and the magnetic resonance imaging revealed excellent radiological outcome ( Figs. 1 and 2 ). Conclusion The surgery of FMM is challenging due to the deep surgical corridor, critical location, close proximity with various neurovascular structures, firm consistency, and high vascularity of the tumor. The modified far lateral approach by preserving the occipital condyle may prevent the postoperative incidence of craniovertebral junction instability. The key operative principles to achieve the best surgical outcome include careful dissection along the arachnoid plane, gentle handling of cranial nerves, veins, and perforator vessels, avoidance of traction on brainstem and spinal cord, intraoperative neurophysiological monitoring, proper hemostasis, and meticulous dural closure. The link to the video can be found at: https://youtu.be/1qvAeUmNIUw .

A Prospective, Single-Blinded, Bicentric Study, and Literature Review to Assess the Need of C2-Ganglion Preservation - SAVIOUR's Criteria.

ObjectiveJoint manipulation for craniovertebral junction instability is often hindered by the C2-ganglion (C2G). Our study aims to compare the surgical outcome among patients with or without C2G preservation and discuss the technical nuances. MethodsWe did a prospective, bicentric study and included all the operated patients with craniovertebral junction anomaly. The outcome was assessed by the Pain Numeric Rating Scale, Patient Satisfactions Score, and Stony Brook Scar Evaluation Scale. The fusion was assessed using Lenke fusion grade. ResultsOne hundred seventy-one patients (88 in group A and 83 in group B) were included. The most common symptom was spastic quadriparesis (n = 165, 96.5%) with median Nurick grade 3.3. Thirteen patients had suboccipital numbness and 12 patients had paraesthesia. Mean blood loss in group A was 490 ± 96.2 mL and group B was 525 ± 45.7 mL; median operative time was 217.9 and 162.2 minutes in the groups A and B, respectively (p < 0.05). At the follow-up (median, 46.8 months), Lenke fusion grade A was achieved in 92.4% and grade B in 7.6%. A trend suggesting better functional outcomes (numbness, parestheisa, scar outcome, and postoperative ulcer formation) in group A was seen with all 6 patients, who underwent O-C2 fixation, developed pressure sore. ConclusionOur results support ganglion preservation, especially in the subset of patients where occipital plating is required. Although the study fails to show any statistical significance, we suggest that one should always start with an ‘intent’ of preservation as the functional outcome is better.