Full Motor Power Research Articles

P.044 GMPPB mutation causes a muscular dystrophy-myasthenic spectrum

Background: Mutations in GDP-Mannose Pyrophosphorylase B (GMPPB) cause a spectrum of disease ranging from muscular dystrophy to congenital myasthenic syndrome (CMS). Recognition of neuromuscular junction dysfunction has important treatment implications. Methods: We describe a person with GMPPB mutation causing an overlapping limb girdle muscular dystrophy - myasthenic syndrome with robust response to acetylcholinesterase inhibitors. We review the literature on the muscular dystrophy - CMS and explore the phenotypic features that aid in recognizing neuromuscular junction dysfunction. Results: A 35-year-old woman presented with a 10-year history of debilitating myalgias, symmetrical limb girdle and neck weakness, and chronic CK elevation. Electromyography showed a non-irritable myopathy. Biopsies were consistent with muscular dystrophy. Whole genome sequencing revealed two heterozygous pathogenic mutations in the GMPPB gene, giving a diagnosis of genetically confirmed limb girdle muscular dystrophy. Subsequently, repetitive nerve stimulation revealed decrement in the trapezius muscle suggestive of an overlap myasthenic syndrome. She was started on pyridostigmine resulting in recovery of full motor power with significant functional improvement. Conclusions: Identification and treatment of neuromuscular junction dysfunction caused by GMPPB mutations can significantly improve motor power and function. Early onset of progressive fatigable proximal weakness, spared ocular and facial muscles, and pyridostigmine responsiveness are important features of GMPPB-related CMS.

Surgical management of spontaneous thoracic and lumbar spondylodiscitis by fixation and debridement.

Background: Spondylodiscitis could be considered one of the most disturbing challenges that face neurosurgeons due to variety of management strategies. The lumbar region was highly affected then dorsal region with higher percentage for lesion in L4/5 (25%) followed by T11/12 and L5/S1 (15%). In our study, we discuss the efficacy of debridement and fixation in cases of spontaneous thoracic and lumbar spondylodiscitis.Methods: This retrospective study included 40 patients with spontaneous thoracic or lumbar spondylodiscitis indicated for surgical intervention in the period from March 2019 to February 2021. All patients were subjected to thorough history taking, neurological examination, and investigations. The patients were operated on through posterior approach by debridement and posterior transpedicular screws fixation and fusion.Results: Clinical assessment early postoperative revealed 75% of cases showed full motor power and 20% showed improvement in motor power, for sensory assessment, 85% showed improvement, the mean visual analog scale (VAS) score was of 3.65 ± 0.87. After 3 months postoperatively, 95% of cases were full motor power with sensory and autonomic (sphincteric) improvement. The mean VAS score was 2.5 ± 0.68. After 6 months postoperative, the clinical assessment revealed that 95% of cases were full motor power with sensory manifestation improvement, and 95% of them were continent. The mean VAS score was 1±0.85. Culture results showed that 65% of samples were negative culture, 15% had methicillin-resistant Staphylococcus aureus, and 10% had Escherichia coli with a single case of Pseudomonas and another one of fungal (Candida albicans). Postoperative 90% of cases showed improvement in erythrocyte sedimentation rate results and 95% of cases showed improvement in C-reactive protein results.Conclusion: Management of spontaneous thoracic and lumbar spondylodiscitis by surgical debridement and posterolateral open transpedicular fixation seems to be effective and safe method despite the presence of infection. We found that the clinical condition of our patients showed significant improvement with this addressed approach.

Thoracolumbar Fractures in Adolescent Patients: Epidemiological, Clinical, Radiological Characteristics and Recent Methods of Management

Background: Spine fractures account for a large portion of musculoskeletal injuries worldwide; approximately 54.9% of the patients had fractures in the thoracolumbar spine; with most of these occurring at the thoracolumbar junction (T10-L2). Objective: To assess the epidemiologic characteristics of spinal injuries in adolescents, their unique anatomic, and radiographic characteristics. Patients and Methods: 18 selected patients presented with traumatic thoracolumbar fractures admitted to the Neurotrauma Unit of Neurosurgery Department, Zagazig University Hospitals, and Al-Ahrar Teaching Hospital, Sharkia, Egypt with our study prospective study and post-resuscitation they were of both sexes and their age range starts from 12:17 years adolescent group. Results: the number of patients (18 patients) was 20.2% from 189 cases of all spine fractures in adolescent patients. Sex were 11 males (61.1%) falling from height is the most common cause of thoracolumbar fractures (50%), followed by road traffic accidents (33.3%). the most common type of fracture in both groups was a wedge and burst where it constituted more than 80%. Orthopedics fractures were the most common associated injuries which were found in 6 patients (33%). According to motor power, 14 patients had full motor power (77.7%). the most common level of injury was L1 vertebrae 11patients (61.1%). The mean height of the vertebral body in the conservative treated group was 26.11±4.85, but in the surgically treated group is 25.55 ±4.63. Conclusion: The most common cause of trauma was fall from a height (50%). The most affected vertebra was L1 (61.1%). Over 80% of patients were neurologically intact. The angle of kyphosis in the surgically treated group improved and decreased from 23 degrees to18.22 degrees.

Surgical Excision of Large Sacral Chordoma with Lumbopelvic Fixation

Background: Chordoma is slowly growing locally malignant destructive tumor originated as a remnant of notochord. It occur less than 5% of all bone tumors. It has a preferentiality to attack sacrum up to 50%, followed by base of the skull up to 40% and to less extent other vertebral regions up to 15%. Local pain, radiculopathy, and urinary incontinence are the usual presenting symptoms in case of Sacral Chordoma. Contrast enhanced MRI and CT are recommended studies to evaluate extent of both soft tissue invasion and displacement and bone destruction and calcification. This lesion is resistant to chemotherapy and weak response to radiotherapy make the surgical excision first line of treatment. Aggressive surgical excision and stabilization of lumbosacral spin and pelvis improve the local control in spite of risk of associated morbidity. Sacral Chordoma is reported to be poor prognosis. The optimal method for management of this lesion is debatable due to its rarity. Aim: To present a case of Sacral Chordoma with very large local extension and sacral destruction. Study design: Case report. Methods: our 60 years old male patient presented with lower lumbar and sacral swelling, bilateral gluteal pain, and obstructive uropathy. Slowly progressive within the last nine months prior to presentation; contrast enhanced MRI and CT lumbosacral spine, show a large sacral destructive heterogeneous mass lesion destructing the sacrum and intraspinal structures apart from first sacral segment. By CT guided biopsy at oncology institute diagnosed as Sacral Chordoma. He was subjected to gross surgical total excision, and posterior lumbosacral transpedicular screw fixation concomitant with iliac screw for sacral augmentation, then adjuvant radiation therapy. Results: After tumor excision and lumbopelvic fixation, the patient still incontinent, full motor power of both lower limbs. Complete course of adjuvant radiation. And after one year follow up the patient died due to bad general condition. Conclusion: Sacral Chordoma is infrequent lesion that affect male more than females. Gross surgical excision is the first line of treatment. Lumbopelvic stabilization is mandatory when extensive sacral destruction exist. Sacral Chordoma reported to be poor prognosis.

Thoracic Spine Fracture in 18 Month Old Child; Case Report

Background Data: Spinal column trauma is relatively uncommon in pediatric patient and not frequently encountered among the 1st two years especially in the thoracic region.Purpose: To describe a rare presentation of thoracic spine fracture within the first 2 years of age.Study Design: A case report.Patients and Methods: We report case of 18 month old male patient with significant both lower limbs weakness after history of falling from height. Examination revealed paraplegia while full motor power of both upper limbs. Computed Tomography (CT) thoracic spine showed compression fracture of the sixth thoracic vertebrae. This has been confirmed by magnetic resonance imaging (MRI) that showed significant central cord contusion opposed this fracture. Conservative treatment was selected with custom made spine brace associated with physiotherapy sessions.Results: Spontaneous volitional lower limb movements have been reported within 8 months after the insult.Conclusion: The neurologic deficit is still the key for the examiner to suspect the presence of spinal cord insult that can be associated spine fracture especially in this young age. (2016ESJ120)

Upper Extremity Paresthesias in a High School Football Player

HISTORY: A 16 year old male football player presents with recurrent episodes of bilateral arm paresthesias. This first occurred six weeks prior to presentation after he was tackled with his neck axially loaded in a flexed position, and was associated with mild subjective weakness. This lasted a few minutes and resolved spontaneously. This happened four more times with each episode lasting longer in duration. He denied any lower extremity symptoms. One week prior to presentation, he was blocking an opposing player and had a hyperflexion injury which precipitated paresthesias which lasted for hours. He denied any bowel/bladder incontinence or saddle anesthesia. PHYSICAL EXAMINATION: No malalignment or rotational deformity of the neck. No bony tenderness or cervical paraspinal tenderness. Full cervical range of motion in all planes without pain. Spurling test is negative bilaterally. Full motor power in the bilateral upper and lower extremities except for slight weakness in right shoulder abduction and right hand finger abduction. No Hoffman sign present. Sensation intact to light touch bilaterally DIFFERENTIAL DIAGNOSIS: Cervical cord neurapraxia Spinal stenosis Cervical radiculopathy Stinger/Burner Brachial plexopathy Parsonage Turner Syndrome TEST AND RESULTS: Cervical cord neurapraxia without cord contusion in the setting of congenital stenosis of the cervical spine FINAL WORKING DIAGNOSIS: X-rays of the cervical spine showed normal lordosis, proper alignment, preserved intervertebral disc height, and no acute osseous abnormalities. An MRI showed significant central canal stenosis at C3-4, C5-6, and C6-7 with loss of surrounding CSF fluid signal at these levels. Smallest canal diameter is 8mm at C5-6. There was no cord edema noted. TREATMENT AND OUTCOMES: Though a validated risk stratification mechanism or return to play criteria does not presently exist in the literature, the results of the MRI and the progressively increasing duration of symptoms suggest an increased risk of future spinal cord injury with continued participation in contact sports. He does score in the “Moderate risk” category based on the Cervical Spine Injury Rating Scale proposed by Watkins, et al in 1990. He was held from participation and referred to spine surgery to discuss additional treatment options and return to play prognosis.

Acute Quadriplegia Caused by Idiopathic Spontaneous Epidural Haematoma in Young Adult-Case Report and Review of Literature

Introduction: Authors tried to emphasize the importance of diagnosing and rapidly treating spontaneous spinal epidural hematoma (SSEH), a rare idiopathic condition which if not recognized early can have catastrophic consequences. The definition and pathophysiology of this condition remains controversial. Usual management consists of urgent MRI imaging followed by immediate surgical decompression. Clinical presentation: A 22 year young adult presented with the symptoms of sudden severe chest pain, followed by weakness and numbness over the all four extremities, progressing to intense paraparesis, anesthesia and consecutively quadriplegia and sphincter control loss. MR imaging demonstrated acute epidural hematoma of cervico-thoracic spinal segments (C7-Th2) with cord compression. Idiopathic SSEH was diagnosed and prompt decompressive laminectomy with hematoma evacuation was performed. During the operation cause of bleeding was not identified. Postoperatively CTA and DSA were performed which came back negative. After 2 weeks, there was no residual weakness/parasthaesias, sphincter control was fully obtained and full motor power was required. Discussion: SSEH in its true idiopathic form is a rare pathologic entity which can be disabling or fatal. According to the literature, most patients present with severe back and/or neck pain, often with a radicular component, followed by motor and/or sensory deficits which are symptoms to be aware of. Prompt diagnosis should be made with MRI, and evacuation of the hematoma should be immediate, ideally before the onset of neurologic signs or symptoms. As evidenced outcome depends on prompt operation timing and prognosis is impacted by age and preoperative deficit. Because of the high risk of poor outcome without treatment, SSEH should always be a diagnostic consideration in patients whose presentation is even slightly suggestive. Rapid, appropriate surgical treatment can often lead to complete recovery of function, whereas any delay in appropriate treatment can be disastrous. The role of conservative management needs to be proven and should be tailored on an individual basis. Conclusion: SSEH is a rare and potentially fatal disease. Prompt diagnosis and surgical treatment is required to obtain good outcome results. Physicians should be aware of the early symptoms so the best treatment can be achieved.

Comparison of Two Doses of Ropivacaine Hydrochloride for Lumbosacral Epidural Anaesthesia in Goats Undergoing Laparoscopy Assisted Embryo Transfer

Goats (n = 12) undergoing laparoscopy assisted embryo transfer were randomly allotted to two groups (I and II) and injected same volume of ropivacaine hydrochloride at 1.0 mg/kg and 0.5 mg/kg body weight, respectively, at the lumbosacral epidural space. The hind quarters of all the animals were lifted up for the first 3.0 minutes following injection. Immediately after induction the animals were restrained in dorsal recumbency in Trendelenburg position in a cradle. Laparoscopy was performed after achieving pneumoperitoneum using filtered room air. Regional analgesia and changes in physiological parameters were recorded. The mean induction time in animals of group I (n = 6) was 12.666 ± 1.994 minutes. In these animals the analgesia extended up to the umbilical region and lasted for 60 minutes. Only two animals in group II were satisfactorily induced in 11.333 ± 2.333 minutes. In animals of group I, the time taken for regaining the full motor power was significantly long (405 ± 46.314 min) when compared to group II goats (95 ± 9.219 min). From this study it was concluded that ropivacaine did not produce adequate analgesia in most of the goats at 0.5 mg/kg. When used at 1.0 mg/kg, it produced satisfactory regional analgesia lasting for one hour but the prolonged motor loss precludes its use. Additional studies using ropivacaine hydrochloride at doses in between the two extremes used here may be undertaken before recommending it for lumbosacral anaesthesia in goats undergoing laparoscopy.

The effect of adding ketamine to bupivacaine in spinal anesthesia in day-case surgery

Objectives In this paper, we evaluate the effect of adding ketamine to spinal anesthesia in day-case surgery with regard to the time of onset of block, the duration of the block, hemodynamic variables, postoperative time to full motor power, time to walking, and side effects. Materials and methods Sixty patients scheduled for day-case surgeries under spinal anesthesia were studied in a prospective double-blinded randomized manner. Patients were allocated to receive either 3 ml hyperbaric bupivacaine (0.5%) (group I) or 2 ml hyperbaric bupivacaine (0.5%) combined with ΍ ml ketamine (25 mg) + ΍ ml normal saline (group II). Results The onset time and the duration of the block were shorter in group II than in group I. The postoperative time to walking, the time to full motor power recovery, and the duration of spinal analgesia were shorter in group II. There were no significant differences in hemodynamic variables or side effects. Conclusion Ketamine added to hyperbaric bupivacaine in spinal anesthesia provides a shorter time of onset of block, a shorter duration of the block, and a shorter time to full motor power and to walking postoperatively in day-case surgery.

Symptomatic Lumbar Disc Protrusion Causing Progressive Myelopathy in a Low-Lying Cord

Low-lying cord is an uncommon entity, and cord compression due lumbar disc disease is rarely encountered. We discuss our experience with a case of lumbar cord compression secondary to a large disc protrusion, which caused myelopathy in a low-lying/tethered cord. A 77-year-old woman with known spina bifida occulta presented with 6-week history of severe low back pain and progressive paraparesis. Magnetic resonance imaging showed a low-lying tethered cord and a large disc prolapse at L2/3 causing cord compression with associated syringomyelia. Medical comorbidities precluded her from anterior decompression, and therefore a posterior decompression was performed. She recovered full motor power in her lower limbs and could eventually walk unaided. She had a deep wound infection, which was successfully treated with debridement, negative pressure therapy (vacuum-assisted closure pump), and antibiotics. Six months after surgery, her Oswestry Disability Index improved from 55% preoperatively to 20%. Posterior spinal cord decompression for this condition has been successful in our case, and we believe that the lumbar lordosis may have helped indirectly decompress the spinal cord by posterior decompression alone.

The Combination of Low-Dose Levobupivacaine and Fentanyl for Spinal Anaesthesia in Ambulatory Inguinal Herniorrhaphy

This study investigated whether the addition of 25 microg intrathecal fentanyl to levobupivacaine spinal anaesthesia for outpatient inguinal herniorrhaphy allows a sub-anaesthetic levobupivacaine dose to be used. Forty patients were assigned to receive 5 mg levobupivacaine 0.5% mixed with 25 microg fentanyl (group LF) or 7.5 mg levobupivacaine 0.5% (group L). The highest sensory block levels achieved were T7 (range T5 - T9) and T6 (range T4 - T9) in groups LF and L, respectively. The times to two-segment regression, S2 regression, ambulation, urination and discharge were all significantly shorter in group LF than group L. These results indicate that, for outpatient inguinal herniorrhaphy, intrathecal fentanyl combined with low-dose levobupivacaine provides good quality spinal anaesthesia and minimizes the need for intra-operative analgesia. This protocol is well suited for the outpatient setting because it features rapid recovery of full motor power, sensory function and bladder function.

Neurologic outcome in conservatively treated patients with incomplete closed traumatic cervical spinal cord injuries.

The neurologic outcomes in patients with conservatively managed incomplete closed traumatic cervical spinal cord injuries was evaluated using the motor scoring system and the Frankel classification. To show that the motor scoring of recovery system combined with functional Frankel grading will make the documentation of final neurologic outcome more accurate for future comparisons of various methods of treatment. The influence of surgical and pharmacologic methods of treatment on recovery remains debatable. Sixty-three consecutive patients with incomplete cervical injuries who were admitted to the hospital within 2 days after injury were included. All patients were treated conservatively with 6 weeks of bedrest and 6 weeks of mobilization with neck support. Five patients had neurologic deterioration, and all but one patient recovered without surgery. The evaluation of 44 patients who were observed for more than 12 months showed that the preservation of sharp sensation below the level of injury was an indicator of a good prognosis in patients whose injuries were classified as Frankel B, and the degree of recovery of these patients according to the motor score system was comparable with that of patients who were classified as Frankel C. All patients classified as Frankel C who did not deteriorate recovered in Frankel grade. All but one of the patients in the Frankel D group recovered full motor power. The degrees of motor deficit and recovery did not correlate with the mechanism or the degree of the injury of the spinal axis. Conservative treatment remains a good option for patients with incomplete cervical cord injuries. It is hoped the current study will be a good basis for comparison of the neurologic outcomes of different treatment modalities.