Spastic Quadriparesis Research Articles

Epidural venous engorgement resulting in progressive cervical myelopathy from shunt-related intracranial hypotension

The authors report an unusual case of engorged epidural veins causing progressive cervical myelopathy after long-term cerebrospinal fluid (CSF) shunt therapy and intracranial hypotension. An 18-year-old woman, who had previously undergone shunt placement with a distal slit valve for a porencephalic cyst when 2 years of age, presented with progressive spastic quadriparesis, numbness, and gait difficulty. Postural headaches were absent and a lumbar puncture revealed low CSF pressure. Neuroimaging disclosed markedly engorged anterior epidural veins causing compression of the cervical spinal cord. The slit-valve shunt system was surgically removed and an external drain was placed. The patient's CSF pressure was gradually raised to clinically tolerable levels. Once the optimal pressure was identified, a programmable shunt was placed with the valve set at the same level. The patient's neurological status improved, and the epidural veins had returned to their normal size on follow-up imaging. The authors describe the unique treatment strategy used in this patient and review the literature on epidural venous engorgement as it relates to intracranial hypotension.

Clinical variability in glycine encephalopathy

Glycine encephalopathy (GCE) is an autosomal recessive error of glycine degradation, resulting in a poor outcome with severe mental retardation, intractable seizures and spasticity. Milder variants with a significantly better outcome have been reported, but an early prediction of the long-term outcome is not yet possible. With regard to the long-term outcome, the data reported in the literature of children with different GCE forms were compared. Determination of cerebrospinal fluid and plasma glycine concentrations at the time of diagnosis were not useful in differentiating mild and severe outcomes. By contrast, several clinical parameters correlate with a poor outcome: spastic quadriparesis, truncal hypotonia, typical electroencephalography patterns, congenital and cerebral malformations (e.g., corpus callosum hypoplasia). Hyperactivity, behavioral problems and choreiform movement disorders are associated with a milder outcome. Thus, prediction of the outcome of GCE may be facilitated by searching for selected clinical parameters. In addition, early neuroimaging may be a valuable tool in predicting the outcome of GCE.

Treatment of spasticity

Spasticity is the most common abnormality of muscle tone; it is the most common form of hypertonicity, and it affects tens of thousands of patients. Untreated, it causes terrible consequences, including joint contractures and deformities, disability, and pain. Twenty years ago, the neurosurgical treatment of spasticity was essentially limited to Bischof myelotomies. Now, neurosurgeons use botulinum toxin injections, selective rhizotomies (intraspinal and peripheral), and intrathecal baclofen (ITB) to treat both focal and generalized spasticity. The efficacy of botulinum toxin injections, selective lumbar rhizotomies, and bolus injections of ITB has been confirmed in randomized controlled clinical trials. Articles in this issue review the indications, techniques, and outcomes for the three modalities. Numerous questions remain about each modality. For botulinum toxin injections, better data are needed about the optimal choices for the following aspects of treatment: what dose to inject; the agent’s dilution; number of sites to inject per muscle; and the appropriate duration of therapy. For selective lumbar rhizotomies, we need to know whether selective rhizotomies yield results that are superior to nonselective ones, whether the frequency of lordosis and scoliosis are significantly increased, and the frequency with which young children with spastic quadriparesis who undergo lumbar rhizotomy subsequently experience significant dystonia or other movement disorders. Questions about ITB include the duration of spasticity before a pump should be implanted (a pertinent consideration in posttraumatic spasticity); whether oral medications must fail to bring relief in patients with severe spasticity before pump implantation is considered; whether bolus screening doses are needed, given the virtually 100% response rate in patients with clear-cut spasticity; whether the frequency of scoliosis is significantly increased; and whether in many patients in whom “tolerance” to baclofen is diagnosed the catheters have in fact migrated from the subarachnoid into the subdural space. Regardless of the modality selected, it is imperative that treatment goals be carefully identified and agreed on by the physician and the patient before treatment commences. “Reducing spasticity” per se is not an appropriate treatment goal. Appropriate goals are more likely to include increasing range of motion, easing care, decreasing pain, improving quality of life, improving gait, or decreasing the development of contractures. The procedures used to treat spasticity are relatively straightforward and lack the technical challenges of aneurysm clip occlusion or tumor resection, but their effects on the quality of life and function in these patients can be as dramatic as the effects of any neurosurgical operation.

Unusual Presentation of Familial Glucocorticoid Deficiency with a NovelMRAPMutation

Mutations in MRAP, an interacting partner of the ACTH receptor, have been shown recently to cause familial glucocorticoid deficiency (FGD) in kindreds with confirmed FGD and no ACTH receptor mutations. We describe a Jewish-Ethiopian family with FGD caused by a novel MRAP mutation. Our index patient presented at the age of 19 months with hypocortisolism, severe psychomotor retardation, myoclonic seizures, spastic quadriparesis, and microcephaly. Before the definite diagnosis was made, a female sibling was born in another hospital and succumbed during the neonatal period due to sepsis and adrenal crisis. DNA was extracted from peripheral blood samples from the index case and his mother and from fibroblasts obtained from the female patient. The DAX-1, ACTH receptor (MC2R), and MRAP genes were analyzed. The index patient was diagnosed with FGD and was found to be homozygous for a novel MRAP mutation, a seven-base deletion in exon 3 of the MRAP gene. This deletion causes a frame shift, resulting in a stop codon after 23 amino acids (L31X). Postmortem analysis of fibroblasts obtained from the female patient revealed that she harbored the same mutation. This is the first report of MRAP mutations after the recent identification of the gene. Whether the novel MRAP mutation described by us is associated with a particularly severe phenotype remains to be investigated.

Spontaneous expulsion of subconjunctival cysticercus cellulosae

Spinal cysticercosis has been reported in 0.7%–3.0% of patients with neurocysticercosis. Most patients with spinal cysticercosis have a coexisting intracranial disease. Most often this intracranial disease manifests as intradural extramedullary lesions involving thoracic and lumbar regions or intramedullary lesions. Intradural extramedullary primary spinal cysticercosis manifesting as cervical myelopathy is extremely rare and has not been reported to date.A 56-year-old man from the northeastern part of India presented with progressive spastic quadriparesis. Magnetic resonance imaging showed a ventrally located intradural extramedullary multiloculated cyst with an enhancing wall in the upper cervical region. Enzyme-linked immunoelectrotransfer blot performed to detect cysticercal antibodies in serum was positive. The patient underwent total excision of the cysts, which were confirmed histologically to be cysticercal cysts. He was also treated with 2 weeks of albendazole therapy after surgery. He had recovered fully 1 year later.Cysticercosis should be considered in the differential diagnosis in a patient with multiloculated cysts in the spinal subarachnoid space. Surgical exploration and excision of the cysts should be performed not only to establish a diagnosis but also to decompress the cord before medical therapy.

Giant cervicothoracic extradural arachnoid cyst: case report

The pathogenesis, etiology, and treatment of the spinal arachnoid cyst have not been well established because of its rarity. A 57-year-old male was presented with spastic quadriparesis predominantly on the left side. His radiological examination showed widening of the cervical spinal canal and left neural foramina due to a cerebrospinal fluid - filled extradural cyst that extended from C2 to T2 level. The cyst was located left anterolaterally, compressing the spinal cord. Through a C4–T2 laminotomy, the cyst was excised totally and the dural defect was repaired. Several features of the reported case, such as cyst size, location, and clinical features make it extremely unusual. The case is discussed in light of the relevant literature.

Vanishing white matter disease: Phenotypic, MR imaging and 1H spectroscopic observations

We report MR imaging features of vanishing white matter disease in a 7-year-old boy, who manifested with seizures, aphasia, spastic quadriparesis and myoclonic jerks. MRI of brain showed diffuse white matter signal changes of CSF intensity in all the sequences. MR spectroscopy of white matter showed severe decrease in NAA, choline and creatine and presence of lactate peak. Additional notable findings were diffuse extensive brain stem and thalamic atrophy. The clinico-radiological correlation was consistent with the diagnosis of vanishing white matter disease. Reporting of such cases may widen the spectra of these disorders.

Encefalopatía en niños con infección por virus de inmunodeficiencia humana de transmisión vertical

According to different authors, between 30% and 70% of children with AIDS clinically present some degree of neurological involvement. When including studies on pathology, the number increases to 96%. We present the epidemiology of pediatric neuro-AIDS in Argentina and our experience in the follow-up of 784 HIV+ children infected by vertical transmission, of whom 311 developed neuro-AIDS. Of these children, 92% presented encephalopathy. In 29% of cases infection of the central nervous system was the hallmark of the disease followed by recurrent bacterial infection in 33%. The present series accounts for 25% of pediatric cases of HIV infection in the country. In our experience, the most remarkable results of antiretroviral treatment compared with natural evolution were: a) Ad integrum remission or noteworthy improvement of progressive and non-progressive encephalopathy, b) Conversion of the most severe cases of progressive encephalopathy (severe developmental delay, acquired microcephaly, spastic quadriparesis and fatal progression) into a more moderate phenotype (less developmental delay, normal head growth, spastic paraparesis and chronic evolution of the disease), and c) Reversion of acquired microcephaly observed in the first years of the epidemic, on which little has been published in the literature.

One stage reduction and fixation for atlantoaxial spondyloptosis: report of four cases

We report four patients having an extremely rare and hitherto unreported clinical condition of spondyloptosis of the atlas over axis. Between the year 1999 and 2004, four patients with spondyloptosis were retrospectively analysed. The age of the patients ranged from 12 to 31 years. In three patients, the aetiology of spondyloptosis was probably congenital in nature and in one case it was secondary to rheumatoid disease. The patients presented with varying degrees of neck pain and spastic quadriparesis. All patients were successfully treated by atlantoaxial joint distraction, reduction of the dislocation and direct lateral mass plate and screw fixation by techniques described earlier by the senior author. Manipulation of the atlantoaxial joints and restoring the anatomical craniovertebral alignments is possible and probably an ideal treatment of cases with atlantoaxial spondyloptosis.

Amyotrophic lateral sclerosis with predominant pyramidal signs—early diagnosis by magnetic resonance imaging

To evaluate the role of magnetic resonance imaging (MRI) in the early diagnosis of amyotrophic lateral sclerosis (ALS) with predominant upper motor neuron (UMN) signs in the initial stage of the disease. Two patients with ALS were found to have spastic quadriparesis with no wasting or fasciculation in the limbs in the early stage of the disease. Both were subjected to MRI of the head and cervical spine to look for any specific diagnostic feature. Both of them were followed with clinical evaluation and electroneuromyography (ENMG) for the definitive diagnosis of ALS. Magnetic resonance imaging showed selective degeneration of the pyramidal tracts in the contiguous axial cuts from subcortical white matter to cerebral peduncles. The finding was more visible in the coronal section. In addition, there was T1 hyperintensity visible along the anterior aspect of the spinal cord in the cervical region. These findings were suggestive of ALS, the diagnosis that was subsequently confirmed by serial clinical follow-up and ENMG. It is difficult to diagnose ALS in the early stage of the disease especially if the pyramidal signs predominate over the lower motor neuron (LMN) signs; MRI might be useful in such cases.

Chiari malformation Type I and a dolichoodontoid process responsible for sudden cardiorespiratory arrest

The authors present the case of an 11-year-old girl who fell from standing height and experienced sudden cardiorespiratory arrest. A Chiari malformation Type I and a dolichoodontoid process were identified, and a brainstem contusion was found that correlated with the patient's clinical signs and symptoms. The authors hypothesize that the dolichoodontoid in a compromised craniocervical space created a contusion in the apposing brainstem at the time of head impact. The patient was left with permanent vocal cord paresis and spastic quadriparesis. Awareness of this rare occurrence is important in managing these congenital abnormalities and in assessing the risk of deterioration.

Patterns of Brain Injury in Term Neonatal Encephalopathy

Neonatal encephalopathy remains a major cause of neurologic and developmental disability in term infants. Approximately one in 5 affected infants die during the neonatal period, and another one fourth have permanent motoror cognitive dysfunction. Previous studies suggest that brain injury occurs at-or near-the time of birth and so might be helped by postnatal interventions. The investigators used magnetic resonance imaging (MRI) to define patterns of injury in 173 term newborn infants having neonatal encephalopathy. MRI was done 1 to 24 days after birth, the median interval being 6 days. MRI distinguished between a watershed-predominant pattern (involving white matter, especially in the vascular watershed and possibly extending to cortical gray matter); a basal ganglia/thalamus-predominant pattern (involving the deep gray nuclei and perirolandic cortex, extending to the total cortex in severe cases); and a normal state. Neuroradiologists without knowledge of the clinical findings interpreted the MRI scans. Cognitive development was assessed by the Mental Development Index of the Bayley Scales of Infant Development II. The watershed pattern of injury was found in 45% of infants and the basal ganglia/thalamus pattern in 25%; 30% had normal MRI findings. Injury patterns could not be related to maternal substance use, gestational diabetes, premature rupture of membranes, preeclampsia, or intrauterine growth restriction. The basal ganglia/thalamus pattern of injury was associated with more severe clinical signs, more intensive resuscitation at birth, more advanced encephalopathy, and more severe seizures. This pattern also correlated with the most marked impairment of motor and cognitive outcomes at age 30 months. No newborn infant with normal MRI findings had a functional motor deficit. More than half (56%) of surviving infants with the basal ganglia/thalamus pattern had spastic quadriparesis. Additional watershed injury did not worsen neuromotor scores when the basal ganglia/thalamus-predominant pattern was observed. Neuromotor scores did not change from ages 12 to 30 months. These findings show that different patterns of brain injury in term infants with neonatal encephalopathy are associated with different neurodevelopmental outcomes. Knowledge of the pattern of injury can help to identify infants who might benefit most from measures that protect the brain after injury as well as those who may benefit from rehabilitative services.

Primary Extradural Epithelioid Leiomyosarcoma of the Cervical Spine: Case Report and Literature Review

No case of primary epithelioid leiomyosarcoma involving the spine has been reported previously. A 61-year-old Nigerian woman presented with progressive spastic quadriparesis and acute urinary retention. Her only medical history included a total abdominal hysterectomy for fibroids 10 years earlier in Nigeria. Results of the general examination were normal. Pyramidal spastic quadriparesis (3/5) with a sensory level at C5-C6 was found neurologically. Magnetic resonance imaging scans of the brain and spine revealed extradural cord compression at C3-C5 as the sole abnormality. This was caused by a large, soft tissue mass arising from the erector spinae muscles, which was predominantly isointense on T1-weighted images, of mixed intensity on T2-weighted images, and homogenously enhanced after gadolinium contrast agent administration. There was an associated signal change in the cord at C3-C4. Computed tomography confirmed the predominantly soft tissue involvement, but with bone erosion and infiltration within the posterior elements of C4. Systemic screening for cancer was negative. At decompressive laminectomy, urgently undertaken under corticosteroid cover, an excessively vascularized, soft tissue tumor was subtotally excised, after which independent walking and normal sphincter function were regained within 1 week. Four weeks later, a complete macroscopic tumor excision was undertaken, incorporating lateral mass (C3-C6) and C2 pedicle screw stabilization, along with iliac crest bone grafting. The patient's neurological status continued to improve. However, while awaiting radical radiotherapy, the patient declined further treatment and returned to her native Nigeria. Histopathological findings were consistent with an epithelioid leiomyosarcoma. This is the first reported case of a primary craniospinal epithelioid leiomyosarcoma.

Progressive cervical myelopathy secondary to chronic ventriculoperitoneal CSF overshunting

CSF hypovolemia typically causes orthostatic headache with or without nonlocalizing symptoms such as neck pain, nausea, aural fullness, and dizziness.1 Focal complications are rare and are usually secondary to subdural hematoma. We report findings from a patient with progressive cervical myelopathy associated with cord distortion due to dural thickening and tortuous venous dilation. Chronic CSF hypotension caused by excessive ventriculoperitoneal shunting seemed to be the primary etiology. A 72-year-old woman presented for evaluation of an undiagnosed gait disorder. Twenty-seven years earlier she underwent right suboccipital craniectomy and ventriculoperitoneal shunt placement for a posterior fossa meningioma. There was no tumor recurrence or shunt malfunction. Four years earlier, she noted the insidious onset of right lower extremity spastic monoparesis. During the year prior to presentation, she developed bilateral leg and right arm weakness, left upper extremity numbness, and urinary urge incontinence. She denied headache, neck and shoulder pain, and orthostatic symptoms. Examination revealed a moderately severe, right-predominant, asymmetric spastic quadriparesis with generalized hyperreflexia, bilateral extensor plantar responses, and mild …

Scedosporium apiospermumbrain abscess treated with surgery and voriconazole

Scedosporium apiospermum is a fungus found in the soil and in contaminated water. Common cutaneous manifestations include Madura foot, a painless swelling on the sole of the foot. Invasive infection is usually associated with immunosuppression. The authors present a 16-month-old immunocompetent boy who had a near-drowning event. Following this, he was severely disabled with spastic quadriparesis. Early computerized tomography scans revealed diffuse hypoxic injury. Magnetic resonance images obtained 3 months after the initial event demonstrated multiple ring-enhancing lesions in the brain. Aspiration of the lesion was performed. Scedosporium apiospermum, the asexual form of Pseudallescheria boydii, was cultured. Conventional antifungal agents were commenced, with minimal effect. The child was subsequently treated with a new antifungal agent, voriconazole, a broad-spectrum triazole antifungal agent with good penetration into the cerebrospinal fluid. The patient improved, with a good radiological outcome and a moderate clinical outcome. The authors review the use of voriconazole for central nervous system infections and review the literature on S. apiospermum associated with near drowning.

Placement of baclofen pumps through the foramen magnum and upper cervical spine

The baclofen pump has been utilized in children with refractory spasticity. However, in children with prior lumbar fusion, the implantation of such a device is difficult and fraught with complications. As an alternative to placing the pump catheter through the lumbar spine, we report our experience with placement of the catheter in the spinal canal via a cervical approach through the foramen magnum. We have followed three patients with prior lumbar fusion and refractory spasticity, each of whom has undergone placement of the intrathecal component of a baclofen pump via the foramen magnum. Appropriate positioning of the catheter tip at the T6 spinal level was determined using intraoperative fluoroscopy. The catheter was then tunneled to the pump in the abdominal wall. All patients experienced a significant decrease in the severity of spasticity with pump placement. The pumps continued to function properly over a follow-up period of 24, 24, and 44 months respectively. In one patient, the catheter recoiled into the subcutaneous tissues several months after its placement, thus necessitating repositioning. One of the pumps was removed 2 years later secondary to a VP shunt infection. However, there were no immediate complications related to placement of the spinal catheter. Placement of the intraspinal component of a baclofen pump via the foramen magnum is a viable alternative for patients with spastic quadriparesis with prior lumbar fusion. The tip of the spinal catheter can be positioned in the thoracic region in a similar manner to the placement traditional lumbar pumps. In our series, there were no adverse sequelae related to the surgery or catheter positioning.

Paraganglioma of the filum terminale

Paraganglioma of the filum terminale is rare. The authors report a case of paraganglioma of the filum terminale presenting with paraparesis on a background of spastic quadriparesis. The clinical presentation, radiological findings and current literature are presented.

Cockayne syndrome: The developing phenotype

Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration. We present a 21-year-old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old. Family photographs demonstrated that the phenotype of Cockayne syndrome did not become evident until she was 8 years old. She had severe microcephaly, micrognathia, protruding ears, dental overcrowding with caries, progressive spastic quadriparesis, and severe developmental regression. Her head computed tomography (CT) showed bilateral calcification of the globus pallidus and global atrophy. The purpose of this clinical report is to alert clinicians to the fact that the phenotypic features of Cockayne syndrome may be very subtle early in the course of the disease.

Botulinum toxin type A in the treatment of children and adolescents with an acquired brain injury

Primary objective. To describe clinical experience using botulinum toxin type A (BTX-A) in children with acquired brain injury.Research design. Single centre, open label, pilot study.Methods and procedures. Twenty-one patients were randomized to three groups according to impairment severity and treatment objectives.Experimental interventions. Group 1: Spastic quadriparesis patients with impaired consciousness treated with the primary goal of improving comfort and well-being; Group 2: Patients with upper limb spasticity treated with the primary goal of improving arm functioning; Group 3: Lower limb spasticity patients treated with the primary goal of improving leg function.Outcomes and results. Baseline, 1, 3 and 5-month post-treatment assessments were carried out using joint goniometry, Modified Ashworth Scale and video-observations. All groups demonstrated initial improvements, with patients in Group 2 showing a positive effect at least 5 months post-treatment.Conclusions. With a good outlining of treatment goals, BTX-A is an effective therapy for brain injury patients.

Association of Craniovertebral and Upper Cervical Anomalies with Dermoid and Epidermoid Cysts: Report of Four Cases

Four patients with craniovertebral junction anomalies (CVJ) and Klippel-Feil cervical fusion defects associated with dermoid and epidermoid cysts are described. During the 10-year period from 1994 until May 2004, 435 patients with developmental CVJ anomalies presented to our institution. Four of these patients harbored a constellation of CVJ anomalies with dermoid and epidermoid cysts (hospital prevalence, 0.9%). All patients (ages 18, 23, and 25 yr) presented with features of spastic quadriparesis, restriction of neck movements, and raised intracranial pressure. Magnetic resonance imaging showed features of CVJ anomalies in all patients (occipitalization of C1, 3 patients; basilar invagination, 3 patients; atlantoaxial dislocation, 4 patients; and an abnormal posteriorly pointed dens, 1 patient), along with a Klippel-Feil anomaly (Patients 1-3, 2nd and 3rd cervical vertebrae). Patient 4 also had a Chiari malformation with syrinx. In addition, all four patients had coexisting dermoid or epidermoid cysts (Patients 1 and 3, midline posterior fossa epidermoid; Patient 2, midline posterior fossa dermoid; Patient 4, quadrigeminal cistern epidermoid). Patients 1 and 2 underwent a posterior midline approach, excision of the tumor, and an occipitocervical fusion (the atlantoaxial dislocation was reducible). Patient 3 underwent transoral excision of the odontoid, followed by tumor excision and occipitocervical fusion via the posterior route. These patients had uneventful recovery. Patient 4 did not undergo an operation. Association of CVJ anomalies with Klippel-Feil and dermoid and epidermoid cysts is extremely rare, with only two previously reported cases. The patient who presented with a quadrigeminal cistern epidermoid with a craniovertebral junction anomaly and Chiari malformation with syrinx is the first such case ever reported in the literature. Apart from therapeutic implications, these patients may shed new light on the embryogenesis. Furthermore, the gathering of these manifestations may constitute components of a new syndrome that has gone unnoticed until now.