Progressive Bilateral Lower Extremity Weakness Research Articles

6812 A Rare Case of Polyglandular Autoimmune Syndrome Type 3B Presenting with Unsteady Gait Due to Subacute Combined Degeneration of the Spinal Cord Associated with Pernicious Anemia

Abstract Disclosure: F. Mohammadrezaei: None. F. Sajid: None. C.A. Resta: None. J.G. Karam: None. A Rare Case of Polyglandular Autoimmune Syndrome Type 3B Presenting with Unsteady Gait due to Subacute Combined Degeneration of the Spinal Cord associated with Pernicious Anemia Background: The coexistence of Hashimoto's thyroiditis and pernicious anemia is well established and is recognized as Polyglandular Autoimmune Syndrome (PAS) Type 3B [1]. We describe a rare case of a patient presenting with subacute combined degeneration of the spinal cord leading to the diagnosis of PAS Type 3B. Case Presentation: A 37-year-old man with no known medical history presented to the Emergency Department after a fall in the subway station. On history, he complained of progressive bilateral lower extremity weakness of 10 months duration, necessitating assistance with ambulation, and significant weight gain, described as an increase in his pants size from 40 to 56. His physical examination was relevant for weight of 145kg, BMI of 46.5, normal motor strength and sensation of the upper extremities, decreased strength at 4 out of 5 of bilateral hip flexion and extension, and decreased vibration sensation of bilateral lower extremities. He could not fully stand or walk due to imbalance and weakness. Blood testing revealed a hemoglobin level of 11.4 gm/dl (14-18), MCV of 108.8 FL (80-94), a significantly low vitamin B12 at 89 pg/ml, and normal folate level. His TSH level was 9.26 MCIU/ML (0.39-4.08), with a free T4 of 0.74 ng/dl (0.8-1.8) and significantly elevated Thyroid Peroxidase Antibody titer at 4320 IU/ml (< 34.9). Intrinsic factor antibody and parietal cell antibody tests both came back elevated at 13.4 AU/mL (0.0-1.1) and 1.8 (<1.2), respectively. A head CT scan showed no acute pathology, but MRI spine with contrast revealed abnormal T2 hyperintensity, primarily affecting the lateral columns throughout the cervical and thoracic cord, likely indicative of subacute combined degeneration. The patient was diagnosed with autoimmune Hashimoto's thyroiditis, pernicious anemia, and subacute combined degeneration of the spinal cord due to vitamin B12 deficiency. He was treated with daily vitamin B12 1000mcg muscular injections, levothyroxine 75mcg orally daily (after ruling out adrenal insufficiency), and physical therapy. Conclusion: This case highlights the complexity of polyglandular autoimmune syndromes and the importance of recognizing atypical presentations early in the history of disease. Comprehensive evaluation and timely intervention are essential to mitigate the progression of these conditions and improve patients' quality of life. Reference: (1) Betterle C, Furmaniak J, Sabbadin C, Scaroni C, Presotto F. Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy. J Endocrinol Invest. 2023 Apr;46(4):643-665. Presentation: 6/1/2024

Surgical treatment and outcome of spinal arteriovenous malformations.

A rare and diverse set of abnormalities formed by spinal blood arteries known as spinal arteriovenous malformations (AVMs) has a higher risk of hemorrhage and morbidity, causing the shunting of blood from veins with an aberrant capillary bed to arteries. Knowledge of the vascular anatomy of spinal AVMs and the spinal cord's vascular supply is crucial to its therapy. The aim of this study was to report a case of SAVM healing after surgical excision, highlighting the importance of surgical excision in treating these rare lesions. A 56-year-old male with progressive bilateral lower extremity weakness and numbness was diagnosed with spinal cord arteriovenous malformation (SAVM). A thoracolumbar spine MRI was performed, and a vascular lesion was found. The feeding artery was coagulated and incised, and the surrounding hematoma was removed. Spinal cord arteriovenous malformation was diagnosed postoperatively. The Oswestry Disability Index (ODI) and the SF-36 questionnaires assessed functional outcomes and physical functioning in individuals with acute or chronic low back pain. In the reported case, the aneurysm showed spontaneous regression at follow-up after surgical removal of the AVM. Post-surgery rehabilitation improved his motor function. After seven months, he showed 90% physical functioning, 75% emotional well-being, 75% social functioning, 87.5% pain, and 55% general health. He could walk with a walking aid and perform daily activities. Treatment strategies for AVM-related spinal aneurysms should be carefully considered. Surgical treatment in several conditions has advantages and is reported to have good outcomes.

Scurvy presenting with difficulties to walk and weakness in pediatric patients; 2 case reports. (P11-9.009)

<h3>Objective:</h3> Vitamin deficiency should be considered during differential diagnosis of neurological symptoms in patients presenting with subacute progressive gait instability and weakness. <h3>Background:</h3> Despite the perception that scurvy is a rare disorder (1,2), clinicians should have a high index of suspicion in patients at risk for nutritional deficiencies including picky eater, behavioral or sensory issues. <h3>Design/Methods:</h3> We report 2 patients of ascorbic acid deficiency who presented with subacute progressive gait instability and weakness. <h3>Results:</h3> Case 1 is a 12-year-old male with autism spectrum disorder who presented with 3 weeks of progressive bilateral lower extremity weakness resulting in wheelchair dependence. Cranial nerves, deep tendon reflexes, and sensory exam were normal. Motor exam notable for proximal &gt; distal lower extremity weakness. Skin and mucosal examination revealed gingival bleeding and corkscrew hair. Detailed dietary history revealed a severely restricted diet. He was found also to have low vitamin D. Patient treated empirically with vitamin C supplementation resulted in marked improvement within 24 hours, so no additional work up was recommended. Ascorbic acid level was extremely low confirming the diagnosis. Case 2 is a 4-year-old with history of mild hypotonia who presented with subacute progressive lower extremities weakness exacerbated by physical activity. Cranial nerves, deep tendon reflexes, and sensory exam were normal. Motor exam notable for proximal &gt; distal lower extremity weakness, waddling gait, and positive Gowers maneuver. Dietary history revealed restricted diet for the last 3 months. CK normal. Supplementation with Vitamin C resulted in minimal symptoms improvement so additional neuroimaging was recommended such as magnetic resonance imaging (MRI) of brain, spine and thigh/leg as well as lumbar puncture (LP) all unremarkable. Ascorbic acid level was low confirming the diagnosis. <h3>Conclusions:</h3> Dietary restriction and subacute progressive weakness should raise concern for nutritional myopathies. Refusal to bear weight is a frequent presentation of ascorbic acid deficiency (3). <b>Disclosure:</b> Dr. Railean has nothing to disclose. Dr. Martindale has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Tourette Association of America. The institution of Dr. Martindale has received research support from Tourette Association of America.

Epidural Spinal Cord Stimulation Helps Restore Locomotion in an Individual with Subacute Combined Degeneration: A Case Report

Background: Subacute combined degeneration (SCD) of the spinal cord with corticospinal tract involvement can impair motor functions below the level of the lesion. Case Report: A 63-year-old man developed progressive bilateral lower extremity weakness marked by difficulty standing for more than a second and the inability to ambulate, causing him to become wheelchair-bound. He was diagnosed with SCD. His vitamin B12 level was corrected and he underwent physical therapy. Despite these interventions, he experienced an overall deterioration in his strength examination. He later underwent an epidural spinal cord stimulator trial with pulsed electrical stimulation. With this, he experienced improvement in his lower extremity strength and regained the ability to ambulate independently. Permanent leads were placed with the retained faculty to ambulate with the stimulator turned on. Conclusion: Epidural spinal cord stimulation (SCS) has the potential to improve motor function and restore locomotion in individuals with spinal cord injury from SCD. Key words: Case report, epidural spinal cord stimulation, spinal cord injury, subacute combined degeneration

Deep venous thrombosis in an individual with statin-exposed anti-SRP myopathy: case report and review of literature

BackgroundImmune-mediated necrotizing myopathy (IMNM) is characterized by proximal muscle weakness, elvated serum muscle enzyme levels, myopathic electromyography findings, and necrotic muscle fiber with few inflammatory cell infiltration in muscle biopsies. Statins, the first line drug to lower triglyceride and cholesterol level in blood, have been reported to be associated with statins-induced necrotizing autoimmune myopathy (SINAM). Although anti-3-hydroxy-3-methylglutarylcoenzyme-A reductase (anti-HMGCR) myopathy is considered as the leading myopathy related to the statins medication, anti-signal recognition particle (SRP) myopathy were also identified in several cases with statin exposure. The risk of deep venous thrombosis (DVT) is substantially high in individuals with autoimmune inflammatory diseases. But few studies have reported the occurrence and recommendation for treatment of DVT in patients with anti-SRP myopathy. Here, we reported a statin-exposed anti-SRP myopathy individual developed DVT who was successfully treated with catheter-directed thrombolysis (CDT) and systemic anticoagulants therapy.Case presentationA 56-year-old Chinese female came to the outpatient room with gradually progressive bilateral lower-extremity weakness. Magnetic resonance imaging revealed myopathy in bilateral thighs. Serum anti-SRP antibody was positive. She was diagnosed with anti-SRP myopathy. When treated with corticosteroids and immunosuppressants, the patient developed mild edema and pain of left lower extremity. Angiography and ultrasound revealed diffuse venous thrombosis of left lower extremity. Therapy was initiated with CDT and lower molecular weight heparin, then switched to once daily oral rivaroxaban. Meanwhile, steroids combined with tacrolimus were also carried on while simvastatin was discontinued. One month later, patient’s symptoms were resolved and only partial thrombosis in left femoral vein was remained.ConclusionThe prevalence of DVT in patient with anti-SRP myopathy was rare. No well-established treatment strategy is available to manage the IMNM and DVT at the same time. The systemic anticoagulants therapy combined CDT can be an effective therapeutic approach to address extensive DVT in patient with anti-SRP myopathy.

RARE-16. A PATIENT WITH MOSAIC POST-ZYGOTIC KRAS-G12D PATHOGENIC VARIANT PRESENTING WITH A SYMPTOMATIC SPINAL NEUROFIBROMA AND LARGE SEGMENTAL TRUNCAL CAFÉ AU LAIT SPOT

An 11 year old boy presented with a three month history of progressive bilateral lower extremity weakness associated with recent intermittent incontinence. Spine MRI showed a right-sided T11-T12 paraspinal mass extending through the neural foramina into the epidural space and causing severe spinal cord compression. Skin showed a large macular lightly-hyperpigmented café au lait spot with irregular borders along the T10-T12 dermatome extending from the spine to approximately the anterior-axillary line. He was suspected to have segmental neurofibromatosis type 1 (NF1) as no additional clinical findings, radiographic features or family history of NF1 were identified. Patient underwent T10-12 laminectomy for resection of the epidural tumor component. Post-operative MRI showed resolution of the mass effect on the thecal sac and cord, with expected tumor residual lateral to the neural foramen. His residual spinal tumor and mild scoliosis remained stable over the two years of follow up to date. Pathological and molecular analysis of the resected tumor revealed a neurofibroma harboring an activating KRAS c.35G>A, p.Gly12Asp (KRAS-G12D) pathogenic variant at 27% variant allele frequency. Melanocytes cultured from two hyperpigmented skin biopsies showed the same KRAS-G12D pathogenic variant. This KRAS-G12D pathogenic variant was not found in leukocytes, indicating a post-zygotic origin. No NF1 pathogenic variant was identified in tumor tissue, melanocytes or leukocytes. The clinical findings were consistent with a mosaic KRASopathy due to a post zygotic KRAS-G12D pathogenic variant. The presence of the KRAS variant in the spinal neurofibroma and overlaying café au lait spot without an NF1 etiology in associated tissues demonstrates overlapping variability of presentations of RAS-MAPK pathway disorders. This case highlights the need for full clinical and genetic evaluation of patients presenting with segmental neurocutaneous disorders.

Usefulness of Distal Access Catheter in Endovascular Embolization for Spinal Dural Arteriovenous Fistulae in the Mid-Thoracic Segment.

We report a case of mid-thoracic spinal dural arteriovenous fistula (SDAVF) that was successfully treated by transarterial embolization using a distal access catheter (DAC). A 75-year-old male presented with about a 2-year history of slowly progressive bilateral lower extremity weakness and numbness. Spinal MRI revealed significant spinal cord lesions and flow voids below Th4. Spinal angiography revealed a mid-thoracic SDAVF. We performed a transarterial selective embolization using a 4.2Fr DAC combined with a 6Fr guiding catheter to obtain a stronger support. The fistula was completely occluded. For endovascular embolization of SDAVF, especially in the case of mid-thoracic SDAVF, using a DAC can be one of the most powerful options to obtain a stronger support.

A Challenging Case of A Myeloid Sarcoma Misdiagnosed as High Grade B-Cell Lymphoma

Abstract Introduction/Objective A 46-year-old female presented with severe back pain associated with progressive bilateral lower extremity weakness and paresthesia, urinary retention, and constipation. Computed tomography revealed a retroperitoneal mass encasing the right psoas muscle, obstructing the right kidney, and extending to the thoracolumbar region resulting in severe spinal compression. An epidural tumor resection was subsequently performed at an outside hospital. Methods Histological sections showed sheets of blastoid neoplastic cells with intermediate to large nuclei, irregular membranes, fine chromatin, and prominent nucleoli. Immunohistochemical stains showed that these cells were positive for CD43, CD79a (weak, focal), BCL2, C-MYC, and PAX5 (weak, focal) and negative for CD10, CD20, CD30, ALK1, BCL6, MUM1, and Tdt. The Ki-67 proliferation index was 75-80%. With this immunophenotype, this patient was diagnosed with a high grade B-cell lymphoma and transferred to our institution for further work-up. On review of the slides, further immunohistochemical testing was requested which revealed positivity for CD117 and myeloperoxidase (MPO). Results The overall morphological and immunophenotypical features are most compatible with myeloid sarcoma (MS) with aberrant expression of B-cell markers and this patient’s diagnosis was amended. Interestingly, the patient’s bone marrow examination only showed 2% myeloblasts with left shifted granulocytosis and concurrent fluorescence in situ hybridization (FISH) studies were negative. Conclusion A literature review showed that 40-50% of MS are misdiagnosed as lymphoma. MS can frequently stain with B-cell or T-cell markers, as seen in this case, which makes it challenging for an accurate diagnosis and sub- classification. In addition, our case is interesting in that there was only extramedullary presentation without bone marrow involvement. Typically, MS develops after the diagnosis of acute myeloid leukemia (AML) with an incidence of 3–5% after AML. It can also manifest de novo in healthy patients, who then go on to develop AML months to years later. Therefore, this patient will require close follow-up.

Progressive Bilateral Lower Extremity Weakness and Muscle Soreness in a 17-year-old Dancer.

1. Gregory W. Kirschen, MD, PhD* 2. Roberta Seidman, MD, MS† 3. Maribeth Chitkara, MD‡ 4. Julie Cherian, MD‡ 1. *Gynecology and Obstetrics Residency, The Johns Hopkins Hospital, Baltimore, MD 2. †Department of Pathology, 3. ‡Department of Pediatrics, Stony Brook Medicine, Stony Brook, NY A 17-year-old previously healthy girl presents with complaints of progressive bilateral lower extremity weakness of 2 to 3 weeks’ duration. She is a competitive dancer who practices many hours each day. Upon initiation of intensive competition training, she notices increasing fatigue and loss of endurance, citing inability to kick her legs as high as usual. She describes generalized soreness in the quadriceps and hamstring muscles bilaterally, associated with weakness, occurring multiple times each day for the past 2 to 3 weeks. Acetaminophen and ibuprofen have had little effect. She takes no medications and has a family history of rheumatoid arthritis and Crohn disease in her maternal grandmother. She denies alcohol or other substance use. She denies fever, headaches, blurry vision, respiratory symptoms, abdominal pain, diarrhea, vomiting, dysuria, hematuria, rashes, visual changes, changes in speech or swallowing, facial weakness or weakness performing activities of daily living. Physical examination is unremarkable, with symmetrical 5/5 strength bilaterally in upper and lower extremities, proximal and distal muscle groups, normal tone, and full range of motion. She has no rash and a normal nailfold capillaroscopy. Laboratory results reveal creatine phosphokinase (CPK) 13,286 IU/L, aldolase 172.7 U/L, lactate dehydrogenase 698 IU/L, alanine aminotransferase 296 IU/L, and aspartate aminotransferase 319 IU/L, enzymes that are expressed by muscle tissue and are commonly used as markers of myocyte injury. (1) Urinalysis is within normal limits and negative for myoglobin. She is placed on intravenous fluids without significant improvement in her CPK or transaminase levels. Thyrotropin is 5.64 mIU/L. Magnetic resonance imaging (MRI) of the thighs without contrast shows extensive, diffuse bilateral muscle edema involving the gluteal, adductor, …

A Complex Case of Polymyositis Overlapping With Hypothyroid Myopathy Without Underlying Autoimmune Thyroid Disorder

A 78-year-old woman with a past medical history of hypothyroidism and Sjogren's syndrome presented with a two-month history of gradually progressive bilateral lower extremity weakness. Significant elevation in thyroid-stimulating hormone (TSH) and muscle enzyme, such as creatine kinase, was noticed on presentation. Due to concerns of hypothyroid myopathy, the patient was started on thyroxine and triiodothyronine supplementation. The patient reported no significant improvement in her weakness in the one-month follow-up. Laboratory workup revealed improving TSH levels but worsening creatine kinase levels. Electromyography study showed primarily myopathic features, such as abnormal insertional activity concerning for mild inflammatory myopathy. Muscle biopsy showed mild inflammatory exudate and features of myopathy with ongoing denervation. The patient was diagnosed with polymyositis and started on prednisone 0.5 mg/kg daily with a taper course and methotrexate. The patient reported significant improvement in her weakness when seen in six weeks with normalizing creatine kinase levels. The hallmark difference between hypothyroid myopathy (including polymyositis-like syndrome) and conventional polymyositis is the complete clinical recovery and resolution of laboratory abnormalities after treatment with thyroid hormone replacement in hypothyroid myopathy. There was no evidence of underlying autoimmune thyroid disorder which makes this case unique. This case highlights the complex case of polymyositis overlapping with hypothyroid myopathy with no underlying autoimmune disorder.

COVID-19 Pandemic Morbidity and Mortality Caused to Non-COVID Spine Inpatients at a Level One Trauma Centre: Case Report

Background: Coronavirus disease 2019 (COVID-19) caused by the 2019 novel coronavirus (SARS-CoV2) is evolving, overwhelming the healthcare system and negatively impacting inpatients, requiring nonelective surgical intervention. Case Presentation: We present two cases admitted under the Orthopaedic Spine Unit, a patient with an acute T12/L1 disc herniation and new-onset progressive bilateral lower extremity weakness, whose surgery was complicated by a cardiac arrest, secondary to a pulmonary embolism due to delayed access to the operating theatre (OR) and a patient with an L3 burst fracture, who left the hospital after waiting for four days for surgical management, being afraid of becoming infected with COVID-19. Conclusion: Challenges amid the COVID-19 pandemic are real, but solutions must be explored. Acting on the proposed strategies listed in the report may be a good start towards improving the outcome and helping to avoid unintentional complications.

Hypercalcemia of Malignancy in a Case of Peripheral Nerve Sheath Tumor: Elucidating the Roles of Simultaneous Mechanisms

Hypercalcemia of malignancy (HCM) is caused by 1 of 5 known mechanisms including systemic release of ectopic parathyroid hormone (PTH)-related protein (PTHrP), calcitriol, PTH, cytokines, or destruction of bone by osteolytic metastases. We report the first case of 2 simultaneous mechanisms for HCM in a patient with a peripheral nerve sheath tumor (PNST). PubMed and Google Scholar searches were performed using "hypercalcemia of malignancy" as the search term. A 26-year-old woman with neurofibromatosis presented with worsening left hip pain. Magnetic resonance imaging showed a large left paraspinal mass, subtotal resection of which confirmed PNST. Despite chemo-radiation therapy, the tumor progressed over 16 months, requiring tumor debulking and L3-4 lumbar laminectomy. The patient developed progressive bilateral lower extremity weakness due to direct tumor invasion of the lumbosacral vertebrae with concurrent hypercalcemia. Ionized calcium was 1.47 mmol/dL (reference range is 0.95 to 1.32 mmol/dL), PTH was <4.0 pg/mL (reference range is 8 to 85 pg/mL), 25-hydroxyvitamin D was 14 ng/mL, calcitriol was <8.0 pg/mL (reference range is 18 to 78 pg/mL), PTHrP was 40 pg/mL(reference range is 14 to 27 pg/mL), urinary calcium was <2.0 mg/24 hours, serum C-telopeptide was 1,008 pg/mL (reference range is 64 to 640 pg/mL), and bone-specific alkaline phosphatase was 15.7 μg/L (reference range is 4.7 to 17.8 μg/L). Her serum magnesium, phosphorus, and creatinine levels were normal. Intravenous zoledronic acid and hydration resulted in a normal ionized calcium. Additional imaging revealed extensive tumor invasion of L3-S1 vertebrae. Due to her poor response to all cancer therapies, the patient was discharged to home hospice services. HCM due to PTHrP and osteolytic metastases has not been independently reported to our knowledge in association with malignant PNST as in our patient. The therapeutic importance of characterizing the mechanism of HCM is further discussed in detail.

Temporal evolution of a patient with a spinal dural arteriovenous fistula on serial MRI.

A spinal dural arteriovenous fistula is a rare type of vascular malformation. If left untreated, these fistulas can result in significant neurological deficits secondary to spinal cord infarct or hemorrhage. A 70-year-old female with a longstanding history of episodic progressive bilateral lower extremity weakness and sensory disturbances was previously misdiagnosed with multiple sclerosis. Imaging revealed a T2 signal change from T7 to the conus with associated signal change and she subsequently underwent a T10-L1 laminectomy for clip ligation of a spinal dural arteriovenous fistula. Here we present the clinical and radiographic progression of one patient with a spinal dural arteriovenous fistula. Spinal dural arteriovenous fistulas are a rare but treatable cause of myelopathy, so it is important to understand its natural progression and radiologic findings as it is frequently misdiagnosed.

A rare case of spinal dural arteriovenous fistula

Spinal dural arteriovenous fistula (SDAVF) is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.

Instability of treated vertebrae after balloon kyphoplasty causing paraparesis in osteoporotic vertebral compression fracture: a report of two cases

PurposeTo describe two unique cases of osteoporotic vertebral compression fracture (OVCF) treated with balloon kyphoplasty (BKP) that were complicated by spinal instability and resultant lower extremity paraparesis.MethodsKyphoplasty was performed in two patients with OVCF that had persistent back pain despite a course of conservative care. Immediately following BKP, both patients had a marked improvement in back pain. However, they developed progressive bilateral lower extremity weakness. Lateral spine flexion–extension radiographs demonstrated instability, and polymethyl methacrylate did not adhere to the endplate of the treated vertebrae.ResultsBoth the patients underwent a hybrid fixation without a decompression. Postoperatively, both of them demonstrated gradual improvement in their neurological exam.ConclusionsTo the best of our knowledge, this is the first report describing the development of spinal instability with resultant delayed paraplegia following BKP. This case report demonstrates another cause of neurological decline following BKP, in the absence of cement leakage.

T12 Compression Fracture Complicated with Delayed Spinal Epidural Hematoma: A casereport

Delayed spinal epidural hematoma (SEH) after a spinal compression fracture is a very rare but important cause of symptomatic spinal cord compression. We report a patient with spinal cord compression and cauda equina syndrome due to delayed SEH after a traumatic T12 compression fracture. A 74-year-old male patient had severe back pain without neurologic deficits after a traumatic T12 compression fracture. He developed progressive bilateral lower extremity weakness, sensory loss, and sphincter dysfunction 2.5 months after the injury. Magnetic resonance imaging of the spine revealed a huge spinal epidural hematoma at the level of T12 to L5. He then received decompressive surgery half a month later. He also received rehabilitation training after surgery. His neurologic deficits improved gradually, and he could walk independently with a quadricane 1.5 years after the injury. Education about the possibility of complications and close follow-up of patients with spinal compression fracture enhances the chance of early diagnosis and treatment, which ensure a good clinical outcome and thus avoids medico-legal issues.

Severe Myelopathy Resulting from Melorheostosis of the Cervicothoracic Spine

Melorheostosis is a rare, noninheritable, benign sclerosing bone dysplasia. The condition was originally described in 1922 by Leri and Joanny1. The disease process is of mesodermal origin, and the minimum prevalence is believed to be 0.9 cases per million2. Melorheostosis typically affects the long bones of the skeleton with the lower extremities being more commonly involved. In addition, the bones of the hand and foot may be involved with the disease process. Involvement of the axial skeleton, especially in Garver isolation, is very rare3. We describe a unique case of a patient who had severe spinal stenosis of the lower cervical and upper thoracic spine due to melorheostosis, resulting in progressive myelopathy. Our patient was notified that data concerning the case would be submitted for publication. Athirty-five-year-old man was evaluated as an outpatient for the subjective complaint of progressive bilateral lower extremity weakness and difficulty with walking. The patient reported that the weakness had started one year prior to presentation and had been progressive in nature with substantial worsening during the previous two months. The patient stated that he was able to walk only one-half block with the assistance of a cane. He also reported difficulty rising from a seated position, with numbness of both lower extremities, and the recent development of urinary frequency. He stated that he had not had any fevers, chills, night sweats, dysuria, or urinary incontinence. The medical history was positive for a diagnosis of fibrous dysplasia due to multiple rib lesions noted on a chest radiograph made twenty years earlier. The patient was not taking any medication and had been participating in physical therapy without any notable improvement in lower extremity strength. On physical examination, the patient was 1.6 m tall and weighed 150 kg. He walked with a …

Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation

Cerebral cavernous malformations (CCMs) are heterogeneous vascular malformations that may cause headaches, seizures, focal neurologic deficits, stroke, and death. With an incidence of 0.1 to 0.5%, they constitute 10 to 20% of all CNS vascular malformations.1 Heterozygous loss-of-function mutations have been identified in KRIT1 ( CCM1 ),2 MGC4607 ( CCM2 ),3 and PDCD10 ( CCM3 ).4 We describe a patient with multiple CCMs presenting with a hemorrhagic thoracic cord cavernous malformation and an unreported CCM1 mutation. #### Proband. A man age 29 with a history of multiple CCMs, including an acutely hemorrhagic left cerebellar CCM resected in 1999, reported a 7-day history of progressive bilateral lower extremity weakness and numbness. He was unable to ambulate on the day of admission, with paresis of his right leg, severe left leg motor impairment, and numbness in his thighs and groin. He reported a painful, distended bladder without urination in over 36 hours. Physical exam demonstrated nearly complete plegia in the right lower extremity. The left lower extremity was 3/5 proximally and 2/5 distally. Sensory exam revealed a dense, multimodality level …

Primary spinal melanoma: case report

We report a case of primary melanoma of the thoracic spinal cord revealed by progressive bilateral lower extremity weakness associated with sensory loss and urinary dysfunction. The preoperative MRI revealed an intramedullary tumour from T7 to T9. Treatment was by complete surgical excision without radiotherapy. Histopathology and immuno-histochemical studies confirmed the diagnosis. The postoperative course was satisfactory with no sign of recurrence after 28 months of postsurgical follow-up. Primary spinal melanomas are rare intramedullary tumours that can be cured by appropriate surgical treatment.