Lower Extremity Weakness Research Articles

P11.58.A Case of a complex neurocutaneous syndrome characterized by extensive peripheral nerve sheath tumors and somatic ERBB2 mutation

Abstract Schwannomatosis is a rare genetic tumor predisposition syndrome characterized by the presence of multiple non-intradermal schwannomas and the definitive absence of vestibular nerve involvement. Though considered benign, the burden of tumors can cause significant morbidity in the form of motor dysfunction and refractory neuropathic pain. Treatment is focused on mitigating these symptoms, which includes resection of offending tumors when feasible and anti-angiogenesis therapy with bevacizumab. Options for targeted medical therapies are lacking. Schwannomatosis is molecularly distinct from the other neurofibromatoses and by definition lacks constitutional mutations in NF1 and NF2. Instead, constitutional mutations in SMARCB1 or LZTR1 are often the “first hit” in tumorigenesis. Activating mutations in ERBB2 (also designated HER2) have been identified as oncogenic drivers in peripheral nerve sheath tumors in patients who lack these typical constitutional tumor suppressor gene mutations. Here we report a case of extensive peripheral nerve sheath tumors in the setting of apparent somatic mosaicism of an ERBB2 mutation. A 48-year-old man with history of chronic back pain presented with diffuse enlarging soft tissues masses primarily involving the left neck and occiput. Examination revealed areas of cutaneous heterogeneous hyperpigmentation, decreased muscle bulk and dorsiflexor weakness in the bilateral lower extremities, and steppage gait. Neuroimaging showed extensive T2 hyperintense, mildly enhancing masses within the bilateral thoracic and lumbar spine neuroforamina, intercostal nerves, paraspinal musculature, and lumbosacral plexus. Tissue from two separate tumor sites was morphologically consistent with schwannoma with some features of neurofibroma. Immunohistochemistry revealed partial loss of staining for SMARCB1. Whole exome sequencing (WES) on blood and tumor tissue did not show pathogenic germline or somatic variants for NF1, NF2, SMARCB1, LZTR1, or an array of tumor predisposition syndromes. WES on tumor tissue from both sites however did reveal a somatic ERBB2 variant (p.D769Y), suggesting mosaicism. ERBB2 D769Y has previously been classified as an activating mutation that confers sensitivity to some small molecule receptor tyrosine kinase inhibitors. Patients with ERRB2-mutated peripheral nerve sheath tumors may have broader therapeutic options in the variety of available tyrosine kinase inhibitors studied in other cancers.

Hypercalcemia in the setting of HTLV-1 infection and a normal PTHrP level

SummaryHuman T-cell lymphotropic virus-1 (HTLV-1) causes adult T-cell leukemia and lymphoma (ATLL) and is a rare but important cause of hypercalcemia. A 53-year-old male with HTLV-1-associated myelopathy presented with acute on chronic bilateral lower extremity weakness and numbness. Initial blood work revealed hypercalcemia with corrected calcium of 16.2 mg/dL (8.5–11.5) with normal levels of phosphorus and alkaline phosphatase. Workup for hypercalcemia revealed parathyroid hormone (PTH) of 14 pg/mL (10–65), 25 hydroxy vitamin D at 19.6 ng/mL (30–100), 1,25 dihydroxy vitamin D at 6.7 pg/mL (19.9–79.3), thyroid-stimulating hormone of 1.265 μIU/mL (0.5–5), undetectable PTH-related protein (PTHrP) and lactate dehydrogenase of 433 U/L (100–220). The urine calcium creatinine ratio was 0.388. Reverse transcriptase PCR was positive for HTLV-1 and negative for HTLV-2. Peripheral blood flow cytometry and lymph node biopsy confirmed ATLL. He received treatment with fluids, calcitonin and denosumab after which serum calcium levels fell (nadir: 7.7 mg/dL) and then normalized. Humoral hypercalcemia in this setting is mediated by receptor activator of nuclear factor-kappa B ligand (RANKL), PTHrP and other cytokines. PTHrP levels depend on levels of the TAX gene product, cell type and lymphocyte-specific factors. Thus, a low level, like in our patient, does not rule out HTLV-1 infection/ATLL as the cause of hypercalcemia. Hypercalcemia is known to be responsive to monoclonal antibodies against RANKL given the compound’s role in mediating hypercalcemia in these cases.Learning pointsHuman T-cell lymphotropic virus-1 infection and adult T-cell leukemia and lymphoma are associated with high rates of hypercalcemia and hypercalcemic crises.Hypercalcemia in these cases is mediated by osteoclastic bone resorption carried out by several agents including receptor activator of nuclear factor-kappa B ligand, parathyroid hormone-related protein (PTHrP), macrophage inflammatory protein 1 alpha, interleukins, etc. A normal PTHRrP does not rule out humoral hypercalcemia of malignancy in this setting, as indicated by this case.Hypercalcemia in such settings is highly responsive to monoclonal antibodies against RANKL given the role the ligand plays in resorptive hypercalcemia.

General Seizures Due to Brain Abscess Causa Suspected Intracranial Tuberculosis at Prof Aloei Saboe Hospital Gorontalo

Introduction: Seizures are a severe clinical condition with complications of brain abscess. This report will describe the rare occurrence of generalized seizures due to Mycobacterium tuberculosis (MTB) brain abscess.Case: Male, 57 years old, admitted to the emergency department with two episodes of generalized seizures one hour before admission. The patient had a history of pulmonary tuberculosis during four months of treatment and was treated with an anti-tuberculosis fixed drug combination (FDC) 3. The patient was in a state of delirium and had lower extremity weakness. The chest radiograph shows a multifocal patchy opacity in the right upper lobe with thickening in the right pericardium. Pre-Contrast MSCT-Scan of the brain showed multiple hypodense lesions in the left frontal lobe, right frontoparietal, left basal ganglia, and pons. Post-contrast shows multiple low-attenuation, oval-shaped lesions with peripheral enhancement (double rim sign) with vasogenic edema. Finally, the patient was diagnosed with a tuberculous brain abscess.Discussion: CNS tuberculosis is a rare cause of seizures and is often followed by a history of pulmonary tuberculosis. Tuberculosis appears on the Contrast MSCT Scan Brain as an avascular mass lesion of low density and sometimes more significant than expected around cerebral edema. End-stage tuberculosis is well encapsulated and has peripheral ring enhancement with vasogenic edema.Conclusion: Pre-Post Contrast Brain MSCT is the diagnostic imaging of choice for suspected tuberculous brain abscess.

Acute Transverse Myelitis after Varicella-Zoster Virus Infection in an Immunocompetent Patient: A Case Report

Herpes zoster is caused by reactivated varicella-zoster virus (VZV) and characterized by a painful skin rash with vesicles that affects the adjacent dermatomes. Transverse myelitis is a rare complication of VZV infection that may even occur in immunocompetent patients. Here, we report a 60-year-old male patient admitted with right lower-extremity weakness and hypesthesia. Spine magnetic resonance imaging (MRI) revealed transverse myelitis at the C3–C4 and T6 levels. A month prior to admission, the patient was diagnosed with herpes zoster involving the right T2-T4 dermatome. Considering his history of VZV infection, he was treated with intravenous steroids and acyclovir. Eleven days after hospitalization, paraplegia developed to Medical Research Council grade 0/5 despite performing plasmapheresis. MRI confirmed the aggravation of the cord lesion between T4 and T7. Acute transverse myelitis after VZV infection is a rare disease that can cause serious sequelae in immunocompetent patients. Therefore, clinicians should be cautious of this situation.

Neoplastic Lumbosacral Plexopathy in Untreated Cervical Cancer: A Case Report

In this report, we present the case of a patient with cervical adenocarcinoma with progressive right lower-extremity pain and weakness. Electromyography of the lower extremities and subsequent ultrasonographic imaging complementarily demonstrated findings considered suspicious for the perineural spread of malignancy to the lumbosacral plexus and sciatic nerve. This possibility was confirmed by magnetic resonance imaging (MRI) and fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scanning. This case report suggests that in addition to MRI and FDG PET/CT scans, electromyography and ultrasonographic imaging are valuable modalities for the diagnosis of perineural malignancy.

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

BackgroundDysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic hyperCKemia, and distal myopathy with anterior tibial onset.Case presentationA 16 year old female presented with myalgia, weakness and dark urine one week after her second BNT162b2 mRNA (Pfizer) vaccine. Initial serum creatine kinase (CK) was measured at 153,000 IU/L, eventually up-trending to over 200,000 IU/L. However, stable renal function precluded hemodialysis allowing discharge after 10 days of intravenous (IV) hydration and alkaline diuresis.Just two years prior to the current presentation, the patient was hospitalized following Group A Streptococcal pharyngitis infection complicated by rhabdomyolysis. She presented with fatigue, lower extremity weakness, and dark oliguria with CK measuring 984,800 IU/L. IV hydration was attempted however hemodialysis was ultimately required throughout her 24-day hospital stay. Her episode was presumed to be idiopathic and no further work-up was performed at that time.During the patient’s current hospitalization, she reported similar symptomology (myalgias and weakness) following her first quadrivalent Gardasil vaccine at age 11. No hospitalization was required at that time. A comprehensive workup was now initiated while the patient was being treated for her suspected second or third non-exertional, non-traumatic rhabdomyolysis. Rheumatologic, metabolic, infectious, and endocrinologic workup were all unremarkable. Patient eventually had whole exome sequencing performed which revealed a heterozygous pathogenic variant in the DYSF gene (DYSF c.2643 + 1G > A) encoding dysferlin. No clinically significant sequelae occurred thus far.ConclusionsWhile there have been reports of symptomatic heterozygote carriers of dysferlinopathies, to our knowledge none have been associated with recurrent rhabdomyolysis after immunogenic stimuli. This unique case presentation highlights the importance of a multi-disciplinary care team, the utility of modern whole-exome gene sequencing, and the future challenges of balancing vaccine risk vs benefit.

Diffuse Spinal Hyperostosis Causing Severe Spinal Stenosis and Thoracic Myelopathy.

Spinal stenosis has a wide range of causes including disc herniation, facet hypertrophy, degenerative spondylosis, facet cyst, ossification of the ligamentum flavum (OLF) and ossification of the posterior longitudinal ligament (OPLL). We present three cases of diffuse spinal hyperostosis causing severe spinal stenosis and myelopathy, which demonstrate a unique association between obesity and a novel syndrome of hyperostosis. This report describes 3 morbidly obese patients with diffuse spinal hyperostosis causing critical thoracic stenosis. Their presenting complaints focus on lower extremity weakness and the CT/MRI imaging is striking for diffuse hyper-ossification at thoracic levels. Two patients were subsequently managed with spinal decompression, and one patient was managed non-operatively. Metabolic changes associated with obesity may result in diffuse hyperostosis with ligament ossification and spinal stenosis. Pre-operative imaging is essential to identify the degree of ossification and potential dural involvement as this may complicate management.

167. Neurologic outcomes of adult spinal deformity patients with baseline preoperative lower extremity weakness: will they improve following surgery?

<h3>BACKGROUND CONTEXT</h3> Adult spinal deformity (ASD) patients undergoing surgery risk neurological decline following surgery. However, surgery may be the key in improving outcomes in patients starting with lower extremity motor deficits at baseline (BL). We aim to analyze the improvement in neurological outcomes of ASD patients undergoing spinal reconstruction with BL and 6-week postoperative lower extremity motor scores (LEMS). <h3>PURPOSE</h3> The aim of this study is to analyze the improvement in neurological outcomes of adult patients undergoing deformity surgery with baseline abnormal LEMS. <h3>STUDY DESIGN/SETTING</h3> Multicenter, prospective cohort. <h3>PATIENT SAMPLE</h3> A total of 205 patients were included in the study. <h3>OUTCOME MEASURES</h3> Patient and procedural factors that lead to the improvement in neurological outcomes of adult patients undergoing deformity surgery with baseline abnormalLEMS. <h3>METHODS</h3> ASD patients ages = 18 were prospectively studied from 2018-2021. All patients underwent an instrumented PSF with a few also having an ASF of the lumbar spine. Patients were dichotomized based on BL LEMS (NML = 50, ABML < 50). The ABNML group was then dichotomized based on whether LEMS improved overall from BL or experienced no change or declined by first postoperative follow-up (PO) and various factors were analyzed and compared using standard statistical tests. <h3>RESULTS</h3> Of the 205 patients evaluated, 134 (65.4%) were NML and 71 were ABNML (34.3%) at BL. Among the 71 patients with ABML LEMS at BL, 49% (N=35) improved to NML levels, 21% (N=15) improved from BL levels but not to NML, 20% (N=14) remained the same, and 10% (N=7) declined further at 6week PO. Compared to ABNML patients with no change or a decline in LEMS at first PO, patients who improved overall (70%; N=50) had significantly more decompressions performed (86% vs 57%; p=0.0092), and had more PCOs performed intraoperatively (90% vs 62%, p=0.0074). There were no statistical differences between the groups in age, BL LEMS, BMI, total instrumented vertebrae (TIV), EBL, and OR time. Overall, the number of patients with NML LEMS at 6 weeks PO increased by 7.5% (65.4% to 70.2%; p<.0001). <h3>CONCLUSIONS</h3> Seventy percent of patients with ABML LEMS at BL improved their motor strength by the first PO visit, while 30% stayed the same or declined. ABNML patients who improved from BL had significantly more decompressions performed and, surprisingly, more PCOs performed. Interestingly, patient factors between the two groups demonstrated no statistical differences further highlighting that improvement may be influenced by the differences in surgical techniques. <h3>FDA DEVICE/DRUG STATUS</h3> This abstract does not discuss or include any applicable devices or drugs.

Stenosis of Azygos Anterior Cerebral Artery Results in Bilateral Anterior Cerebral Artery Strokes.

HomeStrokeVol. 53, No. 10Stenosis of Azygos Anterior Cerebral Artery Results in Bilateral Anterior Cerebral Artery Strokes Free AccessCase ReportPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessCase ReportPDF/EPUBStenosis of Azygos Anterior Cerebral Artery Results in Bilateral Anterior Cerebral Artery Strokes Diana Yang, Brian Behdad Miremadi, Anton Mlikotic and Kassi Kronfeld Diana YangDiana Yang Correspondence to: Diana Yang, DO, Harbor-UCLA Medical Center, 1000 W. Carson St, Building N-25, Torrance, CA 90502. Email E-mail Address: [email protected] https://orcid.org/0000-0001-6695-1771 Department of Neurology (D.Y., B.B.M., K.K.), Harbor-UCLA Medical Center, Torrance, CA. Search for more papers by this author , Brian Behdad MiremadiBrian Behdad Miremadi Department of Neurology (D.Y., B.B.M., K.K.), Harbor-UCLA Medical Center, Torrance, CA. Search for more papers by this author , Anton MlikoticAnton Mlikotic Department of Radiology (A.M.), Harbor-UCLA Medical Center, Torrance, CA. Search for more papers by this author and Kassi KronfeldKassi Kronfeld Department of Neurology (D.Y., B.B.M., K.K.), Harbor-UCLA Medical Center, Torrance, CA. Search for more papers by this author Originally published15 Jul 2022https://doi.org/10.1161/STROKEAHA.122.040216Stroke. 2022;53:e448–e449Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: July 15, 2022: Ahead of Print KEY POINTAlthough much rarer than unilateral extremity weakness, bilateral lower extremity weakness may still result from a stroke—specifically due to vascular compromise of an azygos anterior cerebral artery.A 55-year-old female presented with 1 week of acute onset bilateral lower extremity weakness and reduced speech output. Examination was notable for spastic paralysis of lower extremities, trace weakness in bilateral shoulder abduction, and abulia. Magnetic resonance imaging revealed bilateral anterior cerebral artery (ACA) territory strokes. Computed tomography angiography demonstrated absence of the anterior communicating artery, a hypoplastic right ACA precommunicating segment (A1), azygos continuation of a dominant left ACA, and focal stenosis in the lone A2 segment.ACA territory infarcts only account for 1.8% of cerebral infarcts, and bilateral ACA infarcts are even less common.1 Azygos ACA is a rare circle of Willis variant (0.3%–2% of the population) notable for an absent anterior communicating artery and one ACA postcommunicating segment (A2) feeding both ACA territories.2 Despite the initial difficult localization, bilateral lower extremity weakness may still result from a stroke, specifically due to vascular compromise of an azygos ACA (Figure).Download figureDownload PowerPointFigure. Brain magnetic resonance imaging and head computed tomography angiography. Bilateral anterior cerebral artery (ACA) territory diffusion restriction on magnetic resonance imaging diffusion-weighted imaging (DWI) sequence (A) with corresponding hyperintensity on fluid-attenuated inversion recovery (FLAIR) sequence (B). Three-dimensional computed tomography angiography (C and D) demonstrates 2 anatomic variants: hypoplastic right A1 segment (short arrow) with dominant left ACA and an absent anterior communicating artery. There is significant focal stenosis in the A2 segment (long arrows).Article InformationSources of FundingNone.Disclosures None.FootnotesFor Sources of Funding and Disclosures, see page e449.Correspondence to: Diana Yang, DO, Harbor-UCLA Medical Center, 1000 W. Carson St, Building N-25, Torrance, CA 90502. Email [email protected]lacounty.gov

Pectus excavatum, kyphoscoliosis associated with thoracolumbar spinal stenosis: a rare case report and literature review

BackgroundPectus excavatum is the most common congenital chest wall defect. Thoracolumbar spinal stenosis and kyphoscoliosis was seen in patients with pectus excavatum. It can be caused by ossification of the ligamentum flavum, which is rare in patients with pectus excavatum.Case presentationWe reported a 26-year-old woman presented bilateral lower extremities weakness and numbness for two months, progressive worsening. She was diagnosed as thoracolumbar spinal stenosis with ossification of the ligamentum flavum, thoracolumbar kyphoscoliosis associated with pectus excavatum. The posterior instrumentation, decompression with laminectomy, and de-kyposis procedure with multilevel ponte osteotomy were performed. Her postoperative course was uneventful and followed up regularly. Good neurologic symptoms improvement and spinal alignment were achieved.ConclusionsPectus excavatum, kyphoscoliosis associated with thoracolumbar spinal stenosis is rare, and thus her treatment options are very challengeable. Extensive laminectomy decompression and de-kyphosis procedures can achieve good improvement of neurologic impingement and spinal alignment.

A Case of Lamotrigine-Induced Inflammatory Myositis

We describe a 21-year-old woman with bipolar disorder who started taking lamotrigine 2 months ago who presented with fever and weakness. Physical examination revealed an erythematous rash over the right thenar eminence, as well as proximal muscle weakness in bilateral upper and lower extremities. Magnetic resonance imaging of the lower extremities showed patchy bilateral enhancing myositis. Right quadriceps muscle biopsy revealed inflammatory myopathy. Subsequent bone marrow biopsy demonstrated hemophagocytic lymphohistiocytosis. The patient started a prednisone taper for suspected inflammatory myositis and achieved full remission. This is one of the first descriptions of lamotrigine inducing an autoimmune response presenting as an inflammatory myositis.

ID:16177 Dorsal Root Ganglion Stimulation for Treatment of CPRS After Failed Spinal Cord Stimulation

Patient is a female with complaints of left foot/ankle pain. She suffered a MVA several years ago and has had multiple foot surgeries since then. Pain is constant, throbbing, and aching in nature. She endorsed paraesthesias as well. Pain was worse with prolonged standing and cold weather. She also endorsed some left lower extremity weakness and numbness. Her history and symptoms were consistent with CRPS. She had been on Fentanyl 50mcg patch and oxycodone 10mg with some pain relief. She continued to have pain despite medications (TCA, SNRI, opioids), physical therapy, massage therapy, acupuncture, steroid injections, SNB all with minimal relief.

64-Year-Old Woman With Aphasia and Troponin Elevation

64-Year-Old Woman With Aphasia and Troponin Elevation

Acute Disseminated Encephalomyelitis (ADEM) After Consecutive Exposures to Mycoplasma and COVID Vaccine: A Case Report

Acute disseminated encephalomyelitis (ADEM) is an autoimmune demyelinating disease of the central nervous system, commonly triggered by viral infections or after immunization. ADEM occurrences in adults are rare. Full spectrum of complications is unknown for novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccines.A previously healthy 44-year-old female presented to the emergency room (ER) with acute onset of tingling, numbness, and weakness of both lower extremities, urinary retention, blurred vision in right eye, and midline lower back pain. Physical examination revealed bilateral lower extremity weakness 1/5, absent deep tendon reflexes, and decreased sensation. She received the first dose of SARS-CoV-2 vaccine six days prior to presentation to ER. Imaging of her lumbar spine and head were consistent with an active demyelinating plaque consistent with demyelinating disease either multiple sclerosis (MS) or ADEM. The patient was started on SoluMedrol 500 mg IV twice daily for five days. Serological workup and CSF analysis were nonsignificant except for Mycoplasma pneumonia IgM, elevated myelin basic protein, and positive IgG, IgA, and IgM. Patient gradually improved and was transferred to rehabilitation. Repeat MRI brain and spine showed improvement in previous lesions. However, she had worsening left eye symptoms that prompted her transfer to another facility for plasmapheresis. Plasma exchange was done for five treatments for ADEM. Patient started noticing improvement in vision and was discharged on steroid taper.We report a case of a possible association between ADEM and SARS-CoV-2 mRNA vaccine. It should be considered in the differential diagnosis in any case suggestive of acute demyelination after COVID-19 vaccination.

Lumbosacral plexopathy secondary to internal iliac artery aneurysm: case report and review of literature

Iliac artery aneurysms are usually asymptomatic and can manifest symptoms only when there is compression, erosion, or trauma present. We report an internal iliac artery aneurysm causing lumbosacral plexopathy developed post hernia repair surgery presenting with right lower limb weakness and numbness. Through imaging and physical exam, traction injury and ischemic processes were ruled out as potential causes of the right lower limb weakness and neuropathy. In patients with unexplained lower extremity weakness and numbness, an iliac artery aneurysm compressing the lumbosacral plexus should be considered and further imaging of the pelvis to look for compressive etiologies of the plexus can be done.

Guillain-Barré-Like Syndrome From Esophageal Squamous Cell Carcinoma

Guillain-Barré-like syndrome (GBS) has been noted in solid tumors such as hepatocellular carcinoma, gastric, breast, and colon cancer and is characterized by an ascending weakness generally with mild paresthesias; however, it has not been noted in esophageal squamous cell carcinoma. A 64-year-old woman with moderately differentiated squamous cell carcinoma of the upper esophagus receiving 5-fluorouracil and cisplatin chemotherapy concurrently with radiation therapy presented for two weeks of progressive lower extremity weakness and numbness. She experienced acute worsening of symptoms after her cisplatin infusion. She underwent a lumbar puncture that revealed findings consistent with GBS and she began treatment with intravenous immunoglobin. She had gradual improvement in her weakness and paresthesias and was discharged to an inpatient rehabilitation facility. This case documents the first noted association between GBS and esophageal squamous cell carcinoma.

Transcranial Magnetic Stimulation for Neuropathic Pain with Motor Weakness Caused by Spine Orthodontic Fixation

An 81-year-old woman sustained a fracture of the vertebra, resulting in grace deformation. After surgery for the spinal fixation, she suffered from left femoral neuropathic pain and motor weakness of both lower extremities. Daily repetitive transcranial magnetic stimulation (rTMS) of the lower extremity area in the right motor cortex was applied using a figure-8 coil connected to a magnetic stimulator (MagPro R30；Nagventure)．One thousand pulses per session were delivered (10 trains of 10Hz for 10 seconds with 25-seconds intertrain interval) in one day, and this treatment continued for 2 weeks except Sunday. The intensity of rTMS was set at the resting motor threshold for that day. rTMS together with physical therapy resulted in a remarkable amelioration of the femoral pain and motor weakness of both lower extremities. Pain on a Visual Analogue Scale dropped from 70％ to 22％, and walking speed and walking rate increased. Functional Independence Measure score increased from 58 to 79, and Euro QOL 5 score increased from 0.419 to 0.768. As previously reported in cases of post-stroke pain and motor weakness, rTMS together with physical therapy exerted measurable beneficial effects on intractable pain and motor weakness caused by spinal orthodontic fixation.

A Dorsal Epidural Herniated Disc Fragment Initially Presenting as Guillain-Barré Syndrome

Guillain-Barré syndrome (GBS) is a rare autoimmune disorder that presents with neurological symptoms that can mimic other conditions. This mimicry can hide other important neurological diagnoses. Here, we present a rare case of thoracic myelopathy secondary to a sequestered dorsal epidural herniated disc fragment that initially presented with the classic findings of GBS.A 58-year-old female presented with progressing bilateral lower extremity weakness, paresthesias, and absent bilateral lower extremity deep tendon reflexes. Lumbar magnetic resonance imaging (MRI) findings were disproportionate to presentation, and lumbar puncture fluid analysis revealed clear, colorless fluid with albuminocytological dissociation. The patient was diagnosed with GBS and treated with a short course of intravenous steroids followed by intravenous immunoglobulin. The patient later developed new-onset ulnar distribution paresthesias, lower extremity spasticity, constipation, and urinary retention that caused a decline in functional progress. Further investigation prompted evaluation with cervical and thoracic MRIs, which revealed a left dorsal epidural lesion at the T9-T10 level causing severe cord compression. The patient was definitively treated with a T9-T10 laminectomy and excision of the offending lesion. Pathology revealed collagenous tissue with fibroblastic proliferation, consistent with a sequestered fragment of the herniated intervertebral disc. The patient was further treated with both acute and subacute rehabilitation. She was eventually discharged home and was able to ambulate independently with a walker.Dependency on positive albuminocytological dissociation in cases of potential GBS can lead to errors in diagnostic accuracy and delay appropriate treatment. Clinicians should remain mindful that GBS is a diagnosis of exclusion and MRI of the entire spine should be considered when the diagnosis of GBS is uncertain.

Диагностика и лечение статин-индуцированной некротизирующей аутоиммунной миопатии

Statin-induced necrotizing autoimmune myopathy (SINAM) is an exceptionally rare complication of statin therapy. SINAM belongs to the group of idiopathic inflammatory myopathies and is characterized by muscle cell necrosis and regeneration leading to muscle atrophy. Prominent lymphocytic infiltrates in muscle tissue are absent. Progressive muscle weakness in upper and lower extremities is the main clinical manifestation of SINAM. Autoimmune mechanism of pathogenesis explain the absense of therapeutic effect of statin discontinuation and the risk of relapses. Diagnosis of SINAM can be established by clinical and serologic data, muscle biopsy and the results on noninvasive methods (MRI, ultrasound). Early initiation of immunosuppressive treatment is essential to achieve the cure of SINAM.

Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review

BackgroundYolk sac tumor or endodermal sinus tumor is an uncommon malignant germ cell neoplasm. This tumor usually presents in childhood or young adulthood as a testicular or ovarian mass. Extragonadal sites such as mediastinal, intracranial, and sacrococcygeal have been described. A review of the literature revealed limited related cases. The clinical presentation, radiographic characteristics, operative findings, and patient outcomes are discussed.Case presentationWe report the occurrence of a primary paraspinal germ cell tumor in a 28-month-old boy who presented with thoracic spinal cord compression. The patient presented with pain, weakness, paraplegia, and bowel and bladder disturbances.MRI was done and showed a retroperitoneal and paravertebral mass invading the left diaphragmatic crus, the lateral neural foramen, and the posterior paravertebral muscles. Morphologic and immunohistochemical features were consistent with a germ cell tumor, namely an endodermal sinus tumor (yolk sac) of the epidural area. The final diagnosis was determined to be stage IV extragonadal germ cell tumor. The patient underwent emergency surgery consisting of T10–12 laminectomy and epidural mass resection with the release of the spinal cord compression and received chemotherapy consisting of cisplatin, bleomycin, and etoposide. After six cycles of chemotherapy, follow-up MRI showed complete resolution of the tumor. The patient has been in complete remission 16 years from his initial diagnosis. He still, however, has mild residual weakness in both lower extremities and some detrusor-sphincter dyssynergia.ConclusionExtragonadal germ cell tumors presenting with spinal cord compression are rare; however, they should be included in the differential diagnosis of every child younger than 3 years old who does not present with the typical features. Germ cell tumors are sensitive to platinum-based chemotherapy, and surgery should only be performed for spinal cord compression and for obtaining tissue biopsy for a definitive diagnosis. The sooner the decompression is done, the better neurological outcome is achieved. Long-term remission, and possibly cure, can be achieved with a multidisciplinary treatment strategy.