Spastic Quadriparesis Research Articles

Unilateral Vision Loss after Posterior Fixation for Traumatic Atlantoaxial Dislocation: A Case Report with Literature Review

AbstractPostoperative vision loss following spine surgery is a rare and devastating complication with variable incidence. Various risk factors have been identified in the literature. A 16-year-old male presented with neck pain, spastic quadriparesis, and tingling paraesthesia in the left upper limb for the past 3 years. Radiological workup was suggestive of atlantoaxial dislocation with occipitalization of the posterior arch of the atlas (C1). The patient was prone to a horseshoe headrest and underwent occipito-C2-C3 fixation by removing the posterior rim of foramen magnum. Postoperatively, the patient complained of loss of vision in the right eye. Ophthalmology evaluation revealed a loss of perception of light in the right eye due to central retinal artery occlusion. An injectable steroid was started, but there was no improvement in vision in the involved eye. Proper head positioning and avoidance of intraoperative hypotension are modifiable factors to avoid such devastating complications.

An 11-month-old boy with tuberculous meningitis presenting as progressive limb weakness, fever, developmental retardation, and loss of consciousness: a case report

BackgroundTuberculous meningitis (TBM) accounts for about 1% of all tuberculosis cases and about 5% of extrapulmonary tuberculosis cases. However, it poses major importance because approximately half of those affected die or become severely disabled. Herein, the successful treatment of an 11-month-old boy with progressive limb weakness, fever, developmental retardation, and loss of consciousness due to tuberculosis, was reported.Case presentationAn 11-month-old (Iranian Turk) boy was referred to Loghman Hakim hospital for progressive limb weakness and loss of previously attained developmental milestones for the past 2 months. He also had persistent fever and loss of consciousness for about 14 to 21 days. Before being referred to our center, the patient had been diagnosed with hydrocephalus at another center due to possible acute bacterial meningitis based on a CT scan and MRI imaging. On physical examination, anterior fontanel bulging and neck stiffness were observed on the admission. His body temperature and heart rate were 38.1 C and 86 beats per minute (bpm), respectively. He had left 6 cranial nerve palsy and spastic quadriparesis with a power of grade 3/5. Other systemic examinations were normal. Endoscopic third ventriculostomy (ETV) (and leptomeningeal biopsy) revealed diffuse thickening of the floor and lateral walls of the 3rd ventricle and also a cobblestone appearance in the form of multiple white patchy lesions was detected on the floor of the 3rd ventricle. CSF analysis and polymerase chain reaction confirmed the TB meningitis. During hospitalization, a temporary EVD (external ventricular drain) was initially inserted. Eventually, defervescence was denoted 5–6 days after initiation of anti-TB medications, and a permanent ventriculoperitoneal shunt was inserted due to hydrocephalus. Gradually his truncal and limb tone and motor function improved, as did his emotional responses to his parents and ability to eat. The patient can walk without help in the 15th month following the operation and resolved hydrocephalus demonstrated on follow-up imaging.ConclusionOver half of treated TB meningitis patients die or suffer severe neurological sequelae, mainly due to late diagnosis. Hence, early diagnosis and prompt initiation of TB treatment offer the best chance of a good neurological outcome.

Asociación entre el desempeño funcional y la calidad de vida familiar en pacientes con parálisis cerebral de un instituto especializado categoría III-2 en Perú: Un estudio transversal

Objective. To relate functional performance and quality of family life in children and adolescents with cerebral palsy from the Instituto Nacional de Salud del Niño during 2021. Materials and methods. A retrospective analytical study that analyzed 80 children and adolescents between 2 and 18 years old with cerebral palsy, in a non-probabilistic way, who attended the Physical Medicine and Rehabilitation Service for outpatient consultation. The Pediatric Evaluation of Disability Inventory and the Beach Center Family Quality of Life Scale adapted to Latin America were applied. Results. There were 56% males and a median age of 7 (3-9). The most frequent diagnoses were spastic hemiparesis (32%) and spastic quadriparesis (31%). Slight correlations were observed between functional performance and satisfaction with support for people with disabilities (rho = 0.25; p = 0.026). At the same time, self-care (rho = 0.26; p = 0.022) and social performance (rho = 0.26; p = 0.021) were associated with satisfaction with support for people with disabilities. Conclusion. Functional performance was associated with quality of life domains such as satisfaction with health and safety and support for people with disabilities.

Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study

BackgroundThe rationale for this paper is a description of a patient from Southeast Europe with genetically confirmed Huntington’s disease (HD), coexisting with sporadic, bulbar-onset amyotrophic lateral sclerosis (ALS). To the best of our knowledge, the total number of reported cases with confirmed coexistence of HD and ALS is less than 20. Thus, it is an extremely rare condition speculated to be in a range from 2 to 6 per billion, and data from this part of the World are completely missing.Case presentationHere we report a 72-year-old female with a family history of HD who had generalized chorea and hyperreflexia. Using the PCR-based test for the detection of the CAG triplet repeat expansion, the presence of HD was confirmed. After several months, our patient had progressively developed dysarthria and dysphagia, followed by spastic quadriparesis, generalized muscle wasting, spontaneous fasciculations and sialorrhea. The diagnosis of definite ALS was established based on the patient’s neurological status, electromyography findings and current El Escorial criteria.ConclusionsOur study emphasizes the need for the recognition of the co-occurrence of clinically distinct and rare genetic disorders, such as HD and ALS. New insights from the studies dealing with these rare topics could significantly contribute to the contest of new gene therapy trials.

Cervical intradural extramedullary chaotic lipoma in an elderly patient: A rare case report

Intradural spinal lipoma (ISL) prevalent in children and young adults usually presents with spastic progressive quadriparesis, sensory disturbances, and gait abnormalities. Chaotic lipomas named due to their haphazard distribution are an extremely rare variant of ISL present at the dorsal root entry zone. We describe a case of chaotic spinal lipoma and elucidate the challenges faced in the management of this entity.

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

The PMPCA gene encodes the α-subunit of mitochondrial processing peptidase (α-MPP), an enzyme responsible for cleavage of nuclear-encoded mitochondrial precursor proteins after their import into mitochondria. Mutations in this gene have been described in patients with nonprogressive or slow progressive cerebellar ataxia, with variable age at onset and severity. Cerebellar atrophy and striatum changes were found in severe cases. The patient was diagnosed using whole exome sequencing. Skin fibroblasts were used for confirmation of α-MPP levels using western blot and mitochondrial morphology assessment of immunofluorescent confocal microscopy images. Two novel compound heterozygous variants in the PMPCA gene (p.Tyr241Ser and p.Met251Val) were identified in an 8-year-old proband with progressive spastic quadriparesis, delayed psychomotor development, and intellectual disability, with onset at 13 months. The brain imaging showed cortical and cerebellar atrophy, reduced volume of basal ganglia with striatum hyperintensity, and periventricular white matter changes. The patient's fibroblasts showed a decreased α-MPP level and reduced and fragmented mitochondria. The described case contributes to the number of patients with progressive PMPCA-related disease with a severe intermediate phenotype. Moreover, we extend the phenotype to Leigh-like white matter changes that have not been described in previously reported cases.

Subacute combined degeneration: When neuroimaging complements the clinic—A case report

Introduction: Low serum B vitamin levels are potentially causally related to these prevalent mental symptoms. Because of this, cobalamin—vitamin B12—is crucial for producing myelin and neurotransmitters. Additionally, subacute combined degeneration (SCD) is one of the consequences of B12 deficiency. Symptomatology often is paraplegia, spasticity, and contractures which are typically progressive. In addition, as the disease advances, they experience a distal sensorimotor loss that ascends proximally and causes spastic quadriparesis and generalized hypoesthesia. Case Report: Male, 33 years old, with a history of a fall in December 2015, when pain and discomfort started in the left lower limb. A year ago, she evolved with paraparesis, loss of sphincter control, sensory changes in the extremities of the limbs and sensory level at T10, in addition to a report of visual disturbance in the left eye. At that time, the dosage of vitamin B12 was very low—50 pg/mL (reference above 300 pg/mL). On physical examination: extrapyramidal syndrome with hypoesthesia at the distal level. Bilateral Hoffmann’s sign, spastic paraparesis, hyperreflexia in the lower limbs, clonus in the feet, and loss of sphincter control. Sensitive level at T10. Magnetic resonance imaging (MRI) showed cervical dorsal lumbar spinal cord and cone with hypersignal focus on the lateral and posterior cords and skull hypersignal focus in the topography of the corticospinal tracts, suggestive of combined subacute degeneration. Conclusion: Vitamin B12 deficiency, in addition to other pathologies, is also found in SCD. When treated early, these alterations found in the imaging exam can be resolved without signs of atrophy. Thus, neuroimaging plays a relevant role in the diagnosis, complementing the clinic.

Osmotic Demyelination Syndrome: A Rare Clinical Image.

The term "Osmotic Demyelination Syndrome" (ODS) is synonymous with central pontine myelinolysis (CPM), denoting a condition characterised by brain damage, particularly affecting the white matter tracts of the pontine region. This damage arises due to the rapid correction of metabolic imbalances, primarily cases of hyponatremia. Noteworthy triggers encompass severe burns, liver transplantations, anorexia nervosa, hyperemesis gravidarum, and hyperglycaemia, all linked to the development of CPM. Clinical manifestations encompass a spectrum of signs and symptoms, including dysphagia, dysarthria, spastic quadriparesis, pseudobulbar paralysis, ataxia, lethargy, tremors, disorientation, catatonia, and, in severe instances, locked-in syndrome and coma. A recent case involving a 45-year-old woman illustrates these complexities. Upon admission to the Medicine Intensive Care Unit, she presented with symptoms indicative of diminished responsiveness and bilateral weakness in the upper and lower limbs. Of significance, the patient had a pre-existing medical history of hyperthyroidism. Extensive diagnostic investigations were undertaken, revealing compelling evidence of profound hyponatremia through blood analyses. Furthermore, magnetic resonance imaging (MRI) was performed, unveiling conspicuous areas of abnormal hyperintensity located in the central pons, intriguingly accompanied by spared peripheral regions. These radiological findings align with the characteristic pattern associated with osmotic demyelination syndrome, illuminating the underlying pathology.

Rare Association of Congenital Atrichia with Central Nervous System: A Report of Three Cases

ABSTRACT Congenital atrichia a rare form of alopecia in children, presents with complete absence or sparse hair over the scalp and body, while the teeth, nails, and sweat glands are normal. Uncommonly, this hair abnormality can be associated with any systemic or cutaneous abnormalities. We report three cases of congenital atrichia with parental nonconsanguinity and central nervous associations such as developmental delay,spastic quadriparesis, failure to thrive, myoclonic seizures, and attention deficit hyperactivity disorder. The presence of papular lesions in two among the three children further supplemented our case report. Genetic analysis and counseling regarding the constancy of the condition will be the foremost important part of management.

Complications of Intrathecal Baclofen Pump Therapy: An Institutional Experience from Saudi Arabia.

The intrathecal baclofen pump (ITB) is one of the advanced treatment options in the management of spasticity. This retrospective cohort study was conducted to identify the complications of ITB treatment at a tertiary care rehabilitation facility. Various demographic and technical factors were analyzed, which are less often reported in the literature. All patients with ITB who had their refill at the ITB clinic between November 2019 and March 2020 were included. Of 48 patients, 17 patients had 18 (37.5%) ITB-related complications. Catheter-related complications were most common, whereas loss of efficacy (16.7%) and baclofen withdrawal (14.5%) were the most common outcomes of complications. Only catheter occlusion had a significant relationship with the pattern of spastic quadriparesis (p = 0.001). Gender, rehabilitation diagnosis, patients' residence, and facility of ITB placement did not have significant association. Similarly, age, distance from hospital, disease onset, ITB therapy duration, and baclofen dose were not statistically significant in relation to ITB-related complications.

Bilateral Vertebral Artery Fenestration in a Case of Craniovertebral Junction Neurenteric Cyst: Implications for Surgical Planning

Abstract Vertebral artery fenestration (VAF) is a type of anomaly of the vertebral artery in which a segment of the vessel divides into two separate channels that join together later in the course. Neurenteric cysts are rare, congenital lesions arising within the spinal canal usually in the cervical region. Vertebral artery anomalies if not considered during operative planning can lead to iatrogenic injury. We report a case of a 5-year-old boy who presented with a history of acute onset, non-traumatic spastic quadriparesis. Examination revealed the presence of cervical neurenteric cyst present ventrally at C1–C3 level. Further workup revealed the presence of bilateral VAF with the fenestrated part going along the inferior aspect of the arch of atlas bilaterally. Surgical excision of the lesion was done taking into consideration the anomalous course of vertebral artery. VAFs are classified according to their location as intracranial or extracranial and according to the segment of the vertebral artery from which they arise (V1–V4). Iatrogenic injury to the vertebral artery has been reported during both anterior and posterior approaches to the cervical spine. Due consideration should be given to anomalous course of vertebral artery while planning the surgical approach in craniovertebral junction.

Caregiver burden assessment of children with neurodevelopmental disorders in a tertiary care centre

Families of children with neurodevelopmental disorders have significant financial and social stressors and difficulties with coordinating medical care. Caregivers play a central role in the rehabilitation of these children. This was a hospital based cross sectional study in the Department of Pediatrics in the year 2021-22 in a tertiary care government hospital in Kerala.Caregiver burden was assessed using Zarit Burden Interview and the clinical profile was assessed using a self made proforma. This was done for 86 children and their caregivers.A total of 86 children and caregivers were included in the study and the Zarit burden scores were compared between the categories. 55.8% of the caregivers fell into the category of severe burden. Amongst these, in caregivers of children with cerebral palsy, 68% had a burden score of >60 or categorized as severe burden. In cerebral palsy, the burden score of those caregivers of children with spastic quadriparesis showed 81% falling into the category of severe burden.Caregiver burden continues to be a big concern in our setting where the families are plagued not only by factors affecting the health of their child but also with social and financial burden. Burnout of the caregivers can in turn affect the well being of their children and families.

Spasticity and movement disorders in cerebral palsy.

To review the neurosurgical treatments of children with movement disorders associated with cerebral palsy (CP) during the previous decades, up to the present day. An extensive literature review was undertaken to identify important publications about this subject. My experience treating children with these disorders over the past three decades was included in the individual sections. Peripheral neurotomies have been developed for children with focal spasticity. For those with spastic paraparesis, selective lumbar rhizotomies were developed, and for those with spastic quadriparesis, intrathecal baclofen infusions were developed. Both effectively alleviate spasticity in the affected extremities. Generalized dystonia associated with CP has been treated with deep brain stimulation with mild improvement, but treatment with intrathecal baclofen and intraventricular baclofen improve those movements markedly. No effective treatment has been reported for children with athetoid CP. For those with choreiform CP, deep brain stimulation may be effective but intrathecal baclofen does not appear to be. Treatment of children with movement disorders associated with CP increased slowly in the 1970s and 1980s but accelerated rapidly in the 1990s with the introduction of lumbar dorsal rhizotomies and intrathecal baclofen. In the last 30years, tens of thousands of children with spasticity and movement disorders associated with CP have been treated by pediatric neurosurgeons, and their care has become an integral component of current pediatric neurosurgical practice.

Exclusive Spinal Epidural Arteriovenous Malformation: Taming the Serpent in the Canal

Most spinal arteriovenous malformations (AVMs) are dural arteriovenous fistulas in which a singularly intradural venous drainage emanates from an extradural nidus. A pure extradural spinal arteriovenous malformation (E-AVM), in the absence of a vertebral body (cavernous) hemangioma, is extremely rare, and full clinical, radiological, and operative descriptions are scant. We report this case and review the relevant literature to document the rare occurrence of a symptomatic E-AVM producing compressive spinal myelopathy like symptoms. Adult patient presented with 7-month progressive spastic quadriparesis, hypertonia in lower limbs and graded sensory loss below c6 level. Magnetic resonance imaging revealed a T2 hypointese extradural lesion at C4-5 level and CT angiography revealed an epidural vascular malformation.DSA revealed a Type A epidural AVM. Preoperative embolisation of the AVM with Onyx and coils was done and later a C4-5 laminectomy with excision of the entire Epidural AVM nidus with prolapsed coils was done. Surgical excision was done in view of compressive symptoms Post operatively patient had considerable improvement in power as well decrease in hypertonia. Postoperative MRI imaging after 3 months of surgery revealed complete excision of the malformation and resolution of cord edema. Based on the literature review done, ours is a first of its kind case of Exculsive Epidural AVM (EEAVMs) presenting with symptoms suggestive of Compressive spinal myelopathy. To conclude, E-AVMs may present with compressive myelopathy like symptoms. Treatment should be by tailored to benefit the patient like in our case.

Clinical phenotype associated with variants in TANGO2: A case study

Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical picture of a TANGO2 gene biallelic mutation involves encephalopathy and rhabdomyolysis and is marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy varies and can range from isolated language delay and cognitive impairment to multiple disabilities and spastic quadriparesis. A TANGO2 gene mutation causes serious illness with a limited life expectancy due to the unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. Currently, managing this disease is purely symptomatic. Here, we report the clinical features of a 10-year-old girl with mutations in the TANGO2 gene. Unique to our case was the lack of elevated creatine kinase during the early acute crises of cardiac failure and multi-organ failure, as well as the lack of any prior mental retardation associated with the aberrant heart rhythm.

Use of intraoperative topical antibiotics to reduce intrathecal baclofen pump surgical site infections: a single institution's experience over 24 years.

Patients requiring intrathecal baclofen (ITB) therapy are at high risk for surgical site infections (SSIs) given their poor functional status. After years of a nominal infection rate, there was an inexplicable increase in ITB pump infections at the authors' institution and multiple investigations offered no solution. Use of intraoperative topical antibiotics is well-documented in the orthopedic literature and was considered for ITB pump insertion. In this study, the authors investigated whether intraoperative vancomycin and tobramycin powder at the ITB pump site could reduce SSIs. Operative and infection data were collected and analyzed retrospectively to determine the efficacy of this change. Patients were stratified into three cohorts (1998-2009, 2010-2012, and 2013-2021) to better understand the trends before and after implementation of intraoperative topical antibiotics. Each cohort had similar demographics. One hundred fifty-four patients underwent 272 ITB pump procedures between 1998 and 2021 (131 in 1998-2009, 49 in 2010-2012, and 92 in 2013-2021) for cerebral palsy (69.5%), spastic quadriparesis due to traumatic brain injury (7.1%), anoxic brain injury (6.5%), and other causes (16.9%). Infection rates were reduced from a high of 32% in 2010-2011 to 3.8% over the last 2.5 years (p = 0.0094). There were no adverse effects from the use of topical antibiotics. In the setting of an intractable rise in ITB pump infections, the addition of intraoperative topical antibiotics significantly reduced postoperative infections in a high-risk population. One could appreciate a significant drop each year in the rate of infections after the institution of intraoperative topical antibiotics. The reduction in SSIs significantly improved the long-term outcomes for these patients.

A study of clinico etiological profile of children with cerebral palsy in a tertiary care centre

The clinical spectrum of Cerebral palsy (CP) can differ in various places depending upon the knowledge of the people and resources for prevention, diagnosis and management. Although studied extensively in high-resource countries, adequate data related to CP from resource-constraint settings are lacking.
 The aim: The present study is a descriptive study done on clinical profiles, aetiology, and comorbidities.
 Materials and methods: Present study is a hospital-based descriptive study of 80 children with Cerebral Palsy from January 2020 to June 2021 (18 months) admitted to Niloufer Hospital for Child Health, cases chosen as per inclusion criteria guided by "The Definition and classification of cerebral palsy, April 2006 International consensus". Clinical history and clinical examination and necessary investigations using a systematically designed proforma
 Results: The most common types were spastic type (78.9 %) and hypotonic type (12.5 %). Spastic quadriparesis (55 %) was the most common among subtypes. Males were more affected than females, with more rural than urban distribution. 48.8 % belonged to the lower middle and 37.5 % to the upper lower class of socio-economic status. Consanguinity was observed in 33 %, and 3 % had a similar family history. A high incidence (65 %) was seen in firstborn children. Term gestation was commonest at 87 % and prematurity at 13 %. 91.3 % of the cases were institutional deliveries. For causes of cerebral palsy, 45 % required resuscitation at birth, 2.5 % had neonatal sepsis, 1.25 % had a cerebral malformation, 7.5 % had an intracranial bleed, 7.5 % had post-meaning encephalitic sequelae, 1.3 % had TORCH infection. Comorbidities Like mental retardation were seen in 90 %, seizure disorder in 87.5 %, visual problems in 24.8 %, hearing problems in 13.75 %, 56.25 % of cases were malnourished.
 Conclusions: Comorbidities are significantly observed in cases of cerebral palsy. Appropriate screening and management of comorbidities, especially vision, hearing, speech, seizures, and nutrition, improve the overall prognosis in cases of Cerebral palsy.

Myotonic Dystrophy Type 1 - An Atypical Presentation Having Symmetric Parkinsonism and Early Proximal Muscle Involvement.

Myotonic Dystrophy Type 1 - An Atypical Presentation Having Symmetric Parkinsonism and Early Proximal Muscle Involvement.

Characteristics of Children With Cerebral Palsy in the Post-Therapeutic Hypothermia Era.

Objectives: To explore the profile of children with cerebral palsy secondary to intrapartum asphyxia treated with therapeutic hypothermia after birth and to compare characteristics of children treated with therapeutic hypothermia with mild vs severe cerebral palsy outcome. Study Design: We identified all children treated with therapeutic hypothermia for intrapartum asphyxia in a single-center tertiary-level neonatal intensive care unit from 2008 to 2018 with a cerebral palsy outcome. We collected perinatal and outcome measures from patient charts. We searched the literature for characteristics of children with cerebral palsy prior to therapeutic hypothermia (historical cohort) to compare to our cohort. We subdivided our cohort into mild vs severe cerebral palsy and compared neonatal characteristics to identify predictors of severe phenotype. Results: Thirty of 355 cooled neonates (8%) developed cerebral palsy. More children had spastic quadriparesis and epilepsy, and fewer had visual impairment in the post-therapeutic hypothermia era compared to the historical cohort, but had similar Gross Motor Function Classification System scores. In our cohort, more children had severe (19 of 30, 63%) compared to mild cerebral palsy (11 of 30, 37%). The severe group had higher mean birth weight, lower 5- and 10-minute Apgar scores, and more often white matter injury with associated deep gray matter injury or near-total injury pattern (P < .05). Conclusions: Our data demonstrated more infants with severe rather than mild cerebral palsy in our cohort treated with therapeutic hypothermia. Birthweight, 5- and 10-minute Apgar scores, and magnetic resonance imaging (MRI) findings were significantly different between mild and severe phenotype groups. Our findings can guide clinicians how to better weigh these factors, when counseling parents in the neonatal period.

Classical Hirayama Disease Presenting as Progressive Spastic Quadriparesis.

Classical Hirayama Disease Presenting as Progressive Spastic Quadriparesis.