Lower Limb Weakness Research Articles

P.135 Dura splitting technique for surgical resection of spinal meningioma

Background: Spinal meningiomas are intradural extramedullary tumors that account for 25–46% of all primary spinal tumors. A growing body of literature suggests that the extent of resection significantly affects the recurrence rate of spinal meningiomas and that Simpson grade II resection may not be as adequate as previously thought. Dura Splitting Technique (DST) can be used with no major perioperative complications. Methods: Retrospect review of six cases of spinal meningiomas where DST was used. The patients ranged in age at presentation from 38 to 80 years. All presented with symptoms including gait unsteadiness and lower limbs weakness. Spinal MRI was used to establish the diagnosis. All of the tumors were located ventral or ventrolateral to the spinal cord. Results: DST was applying to spinal meningioma cases,complete tumor resection by separating the involved dura into inner and outer layer. Preserving the dura outer layer and avoiding the need for dural graft reconstruction and CSF leak. A total of six cases, four in thoracic spine and two in cercical spine one anterior and one posterior, all four cases had no reported surgical complications or tumor recurrenc. Conclusions: We confirm that DST is safe and a superior method in the treatment of spinal meningiomas.

Rare case of multiple neurofibromas of the scalp and trunk in association with intradural extramedullary spinal tumor: a case report.

A 63-year-old male from Saptari, Nepal, with multiple insidious swellings in the scalp and trunk region, presented with complaints of weakness of the bilateral lower limb for 6-7 years resulting in difficulties in walking and bleeding from the most significant swelling that was in the occipital area. Masses were present all over the scalp, averaging about 4×4cm, with active bleeding from the two swellings. The authors performed the neurological assessment and histopathological and radiological investigations. A confirmed diagnosis of neurofibroma was made with myelography revealing an intradural extramedullary spinal tumor. A laminectomy with total excision of the tumor was performed. Meningiomas and nerve sheath tumors (schwannomas and neurofibromas) can both develop in the intradural extramedullary spinal compartment. Contrast-enhanced MRI is the most sensitive and specific imaging modality to evaluate possible spinal column lesions. Surgical excision, partial or complete, is the hallmark treatment of neurofibroma.

Effectiveness of Tailored Exercise Protocol on Functional Independence in Post Laminectomy Induced Paraparesis – A Case Study

The compression and decompression junction are a potential site for spinal cord distortion. Cord compression could result from the changed cerebrospinal fluid flow dynamics. Para paresis will occur due to direct trauma sustained during surgery or postoperative hematomas and there is 16% of secondary disease, because of non-traumatic injuries and 84% of spinal cord injury are due to trauma and 2 to 5 times the individuals will die prematurely due to spinal cord injury. Case report of a patient, having D8-L1 wedge compression fracture undergone surgical laminectomy, for which specific exercise protocol designed to improve muscle strength, activities of daily living and reduce clonus. post-operatively patient complained of weakness in bilateral lower limb, and he was dependent on others for his daily life activities, so our aim was to make the patient independent and he should be able to transfer from bed to wheelchair and reduce clonus. Tailored protocol was designed for patient’s functional independence by bed mobility, transfer skills, muscle strengthening by using different scales, and he was trained five sessions in a week for three months. After implementing the exercise program like strengthening exercises for bilateral upper limbs, bed mobility training, stretching of bilateral lower limb muscles for clonus and transfer skills using tailored protocol for twelve weeks there was improvement in all parameters. Keywords: Paraplegia, Functional independence, Tailored exercise

A Rare Case of Meningoencephalo-Myelitis with a Tubercular Origin

Tuberculosis (TB) can affect any bodily system including the central nervous system (CNS). CNS involvement in Tb is fairly uncommon with poor prognosis due to its high mortality and morbidity. Though meningoencephalitis is a frequent presentation of TB, myelitis along with it is rare. Due to the lack of detailed information about meningoencephalo-myelitis, the risk factors and prognosis of these patients are not fully understood. We report such a rare instance of tuberculosis involving the brain, meninges and spinal cord. The patient was a 13-year-old female with the complaints of fever, both lower limb weakness and urinary retention. The diagnosis was made based on the patient’s medical history and physical examination which showed meningeal syndrome, spinal cord and cranial nerve involvement. The diagnosis was confirmed by the analysis of cerebrospinal fluid, magnetic resonance imaging of the brain and spinal cord, and biochemical evidence of tuberculous infection. The patient had a marked clinical improvement and complete neurologic recovery after anti-tubercular treatment and high doses of systemic corticosteroids. The purpose of presenting the case is to share the bizarre presentation of CNS tuberculosis, a diagnostic and therapeutic emergency. Early diagnosis and immediate management may help with the unfavorable prognosis and our report hopes to shed light on it. J Medicine 2023; Vol. 34, No. 2(1) Supplement: 225

A case of herpes simplex virus induced peripheral neuropathy and encephalitis with positive GM3 and CASPR2 antibody

BackgroundWe reported on a case involving an older patient with HSV-1 encephalitis who simultaneously experienced the onset of peripheral nerve symptoms associated with the presence of anti-GM3 immunoglobulin G (IgG).Case presentationA 77-year-old male was admitted to hospital with high fever, weakness of both lower limbs, and an unstable gait. A CSF test revealed a strikingly increased protein level (1,002 mg/L, normative values: 150-450 mg/L) and MRI revealed hyper-signal lesions in the right temporal lobe, right hippocampus, right insula, and right cingulate gyrus. The CSF was positive for HSV PCR (HSV-1,17870). In addition, the serum samples were positive for CASPR2 antibodies (antibody titer: 1/10) and anti-GM3 immunoglobulin G (IgG) (+). The patient was diagnosed with HSV-1-induced peripheral nerve symptoms that were associated with encephalitis and the presence of anti-GM3 IgG and anti-CASPR2 antibodies. The patient had received included intravenous immunoglobulin, intravenous acyclovir, and corticosteroids therapy. At the one-year follow-up examination, he had regained the necessary skills associated with daily life.ConclusionsHerpes simplex virus infection often induces encephalitis, and reaction to the virus may trigger an autoimmune response. Early diagnosis and treatment can avoid the progression of the disease to include autoimmune encephalitis.

Myasthenia-like paraneoplastic syndrome with multiple cranial nerve tumor infiltration: A case report and literature review.

Approximately 0.001% of patients with cancer have paraneoplastic nerve system syndrome, which can affect the central nervous system, neuromuscular junction, or peripheral nervous system. Although myasthenia gravis (MG) may exist as a thymic paraneoplastic syndrome (PNPS), its association with primary lung cancer remains unknown. A 55-year-old female presented with slurred speech, weakness in chewing, sporadic difficulty in swallowing, and weakness in both lower limbs for half a year. Based on cerebrospinal fluid and electromyography findings, we present the case of a female patient diagnosed with overlapping multicranial nerve tumor infiltration and MG-like neurological PNPS secondary to lung adenocarcinoma. The patient received intrathecal injections of pemetrexed and neurotrophic (vitamin B) therapy before ceasing chemoradiotherapy and chose cabozantinib on her own. Weakness of the proximal limbs, choking cough, and chewing problems did not improve significantly. Although it is unclear why MG coexists with lung cancer, it is probable that MG is a paraneoplastic condition. Cerebrospinal fluid testing should be carried out along with electrophysiological, serological, and pharmacological procedures pertinent to the diagnosis of MG to thoroughly examine if people simultaneously experience MG-like PNPS and tumor growth. Starting immunotherapy and anticancer medication at the same time that tumor development and MG-like syndrome are discovered is crucial.

The AMSAN Variant of GBS A Rare Complication of COVID 19 A Case Report and Literature Review

We here report an unusual presentation of the SARS CoV-2, in which the patient did not have any respiratory symptoms rather the presenting complaint was bilateral lower limb weakness, which was later found to be the AMSAN variant of GBS, a rare complication of COVID-19.

Quality of life in children operated for spina bifida; low- and middle-income country perspective.

Spina bifida is a potentially disabling congenital condition and affects the quality of life (QOL). We aimed to assess clinical outcomes and QOL in children who underwent spina bifida repair at our hospital. This was a retrospective cohort study on children who underwent spina bifida repair at our hospital over 10years. Phone calls were made to parents of the children, and the Health Utility Index Mark 3 (HUI 3) score was used to assess QoL, and degree of disability. Demographics and clinical data were obtained from the medical chart review. Statistical analysis was done using SPSS (version 21). Eighty children with a median age of 1.1months (IQR 0.03-2.0) at the time of presentation, were included in this study. The mean follow-up period was 6.04 ± 2.54years and the median HUI-3 score was 0.64 (IQR: 0.40 - 0.96) on a scale of 0 (dead) to 1 (perfectly healthy). Based on the severity of disability, 12 (23.1%) children had mild disability, 4 (7.7%) had moderate disability, and 23 (44.2%) had severe disability. Factors including a leaking spina bifida and paraplegia at presentation; radiological findings of hydrocephalus and Chiari malformation, were associated with a significantly low QOL. Children who required CSF diversion (EVD/ VP shunt) during the repair or at a later stage also had significantly low QOL. In LMIC, children with myelomeningocele (MMC) born with lower limb weakness, hydrocephalus, Chiari malformation, and those presenting with leaking MMC, have a significantly low QoL at a mean follow-up of 6years.

Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report

Hereditary spastic paraplegia (HSP) is a group of neurogenetic diseases of the corticospinal tract, accompanied by distinct spasticity and weakness of the lower extremities. Mutations in the spastic paraplegia type 4 (SPG4) gene, encoding the spastin protein, are the major cause of the disease. This study reported a Chinese family with HSP caused by a novel mutation of the SPG4 gene. A 44-year-old male was admitted to our hospital for long-term right lower limb weakness, leg stiffness, and unstable walking. His symptoms gradually worsened, while no obvious muscle atrophy in the lower limbs was found. Neurological examinations revealed that the muscle strength of the lower limbs was normal, and knee reflex hyperreflexia and bilateral positive Babinski signs were detected. Members of his family also had the same symptoms. Using mutation analysis, a novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family. A Chinese family with HSP had a novel mutation of the SPG4 gene, which is autosomal dominant and inherited as pure HSP. The age of onset, sex distribution, and clinical manifestations of all existing living patients in this family were analyzed. The findings may extend the current knowledge on the existing mutations in the SPG4 gene.

Spinal vascular malformation in a 12 years old child. Diagnostic challenges and management strategies adopting a multidisciplinary approach.

Background: Spinal vascular malformations (SVM) are a complex entity and rarely noted in children. They are commonly seen in the elderly with a predilection for the thoraco-lumbar region. The incidence varies from 3-11% and varies across all age groups. The presenting features in the initial stages are paraplegia, abnormal gait, paraesthesia, radicular pain and diffuse sensory symptoms. If not detected early they can lead to further spinal cord compression and cause urinary retention, bladder, bowel incontinence or erectile dysfunction. Despite the advances in diagnosis and treatment, the complexity of the pathology makes treatment challenging in a child.
 Case presentation: We present a 12 years old female child who presented with lower limb weakness, diminished reflexes and urinary retention. Nerve conduction velocity was suggestive of motor axonal neuropathy. Magnetic resonance imaging of spine was suggestive of paraspinal vascular malformation and has recovered after surgical intervention and embolization.
 Conclusion: Spinal vascular malformation is extremely rare in children with very few reported cases. A multi-disciplinary approach beginning with a detailed history taking and clinical examination is invaluable in such complicated cases to deal with the various aspects of a complex pathology.

Clinical Image: Antineutrophil cytoplasmic antibody-associated vasculitis causing compressive cervicothoracic myelopathy.

The patient, a 64-year-old man, presented with a 6-week history of upper back pain and progressive lower-limb weakness and paraesthesia. Of particular note, he had a past history of chronic sinusitis and otitis media. Examination revealed a spastic paraparesis with sustained clonus, hyperreflexia, and medical research council grade 3/5 weakness in both lower limbs. Magnetic resonance imaging of his cervicothoracic spine revealed a circumferential mass–like lesion extending from C5 to T9 with compression of the spinal cord at T2-T3 (see image). Antineutrophil cytoplasmic antibody (ANCA) testing revealed a perinuclear pattern with a strongly positive myeloperoxidase antibody. Histologic examination demonstrated a dense lymphocytic infiltrate with fibrinoid necrosis of the blood vessel wall consistent with vasculitis. A diagnosis of ANCA-associated vasculitis causing compressive myelopathy was made. Treatment with high-dose glucocorticoids and pulsed intravenous cyclophosphamide was initiated, with almost immediate improvement seen in the patient's neurological status. This highlights the importance of including ANCA-associated vasculitis within the differential causes of spinal lesions. Disclosure form Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

A RARE TREATABLE CAUSE OF ADULT ONSET SPASTIC PARAPARESIS

pastic paraparesis refers to weakness and stiffness of both lower limbs caused by lesions affecting the Pyramidal tract. It could be due to genetic or acquired etiology. Genetic causes include leukodystophies, Heriditary Spastic Paraplegia (HSP), metabolic disorders etc,. Acquired causes include B12 and folate deficiency , infections like HTLV-1 virus, HIV, neurosyphilis , vascular malformations and so on. Here we encounter a rare treatable cause of spastic paraparesis. A 28 year old male born out of 3o Consanguinous parents with normal developmental history came with insidious onset slowly progressive spastic paraparesis for the past 4 years. Initially at onset he noticed difficulty in getting up from squatting position, which was associated with stiffness of lower limbs. Then he noticed there was slippage of slippers while walking and he was aware about it. Physical examination revealed marfanoid Habitus ,increased tone and exaggerated reflexes involving both lower limbs .Motor power was MRC Grade 4/5 in both lower limbs in both proximal and distal muscles. Ocular Examination revealed Ectopia Lentis. MRI Spine screening was normal. MRI Brain revealed symmetric T2/FLAIR hyperintensities involving periventricular and deep white matter of bilateral frontoparietal region. Possibilities of Primary demyelinating diseases and genetic/degenerative leukoencephalopathies were considered. CSF examination was normal and oligoclonal bands were absent. Clinical Exome sequence testing was done in suspicion of Adult onset leukodystrophy which showed Homozygous MTHFR gene mutation on exon4. Plasma Homocysteine levels were elevated ( 60 µmol/L).Patient was started on Oral Vitamin B12 1500mcg/day, Folic acid and pyridoxine supplementation. Patient showed symptomatic improvement and is under follow up. MTHFR deficiency in adults is a mimicker of leukodystrophies and other white matter disease. It is a potentially treatable disease. Before considering degenerative diseases like HSP, treatable diseases should be considered.

The Role of Magnetic Resonance Imaging in the Diagnosis of Spinal Dumbell Neurofibromatosis: A Case Report from a Specialist Hospital in Port Harcourt

Neurofibromatosis occurring in the spine also known as spinal neurofibromatosis (SNF) is a rare disease entity and they occur either unilaterally or bilaterally at the spinal roots. The low prevalence rate of the disease and scarcity of previous literatures is the main aim for this report.
 Our case study is a 29-years-old lady who presented to the Radiology department for a lumbosacral spine MRI, on account of both lower limb weakness, paresthesia, unsteady gait and finally inability to walk. The symptoms have been there since she was 14 years (15 years of progressive symptoms). She also presented with multiple macules on the skin (café au lait spots). Magnetic Resonance Imaging (MRI) of the lumbosacral spine revealed bilateral spinal neurofibromas at the spinal roots of the fourth lumbar vertebra to the sacral/coccygeal vertebrae with destruction of the sacro-coccygeal bones. MRI of the brain revealed no abnormalities in the brain and optic tract. The patient fulfilled the National Institutes of Health (NIH) criteria and that of revised diagnostic criteria for Neurofibromatosis (NF1).
 The patient also presented with lack of pain which could be due to impairment in sensory neurons. We describe a case of spinal neurofibromatosis diagnosed by MRI in a young lady with progressive lower limb weakness, paresthesia, sensory loss, café-au- lait spots and paraplegia.

Thoracic spinal cord compression by an atypical aggressive vertebral hemangioma – A case report

Vertebral hemangiomas are benign vascular lesions of bone , composed of multiple thin-walled vessels surrounded by fat infiltrating the medullary cavity between bony trabeculae.(1) Hemangiomas account for around 2-3% of all spinal tumors and only 0.9-1.2% of these are symptomatic. Surgery is recommended for lesions if they progress rapidly and cause neurological deficits. 47 years old female patient presented with bilateral lower limb weakness due to an aggressive atypical vertebral body hemangioma at D7 level. Patient underwent pre-op embolisation with surgical decompression and stabilization. Neurological recovery was almost complete over a period of 2 months.

A CASE REPORT OF CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY (CIDP)

Case presentation of a 21-year-old guy with a likely diagnosis of Chronic Inammatory Demyelinating Polyradiculoneuropathy is provided in this article. (CIDP).CIDP usually presents with lower limb weakness (difculty in walking, foot drop), numbness, abnormal sensation (tingling, pain), and even loss of reexes. CIDP does not have a denitive diagnosis, and it requires a combination of thorough history taking, clinical examination and a series of investigations (both invasive and non-invasive). The pathophysiological mechanisms of CIDP are not fully yet understood. Currently, 1st line treatment for CIDP includes- IVIG therapy and IV Steroid therapy.

Abstract #1406558: Severe Renal Compromise Associated with Hypercalcemic Crisis Due to Giant Parathyroid Adenoma in a Woman with Bilateral Adrenal Incidentalomas

Parathyroid or hypercalcaemic crisis is a rare presenting manifestation of primary hyperparathyroidism (PHPT). We present a woman with severe hypercalcaemia due to giant parathyroid adenoma presenting as exacerbated chronic kidney disease, who was also found to have non-functioning bilateral adrenal adenomas. A 74-year-old woman, a history of arterial hypertension 10 years ago and lumbar spine scoliosis, usual medication irbersartan 150 mg/day, was admitted by emergency with a 1-week illness time characterized by lower limb weakness, severe low back pain, nausea and vomiting, which intensified the day of admission. Examination revealed BP 120/60 mmHg, heart rate 89 beats/min, weight 75kg, height 1.72cm, dry oral mucosa, no lymphadenopathy or nodules palpable at neck level. Laboratory tests: Arterial gases pH: 7.3, HCO3: 17mmol/L, Calcium: 3.8meq/L; hemoglobin: 10.1g/dl, creatinine: 7.32mg/dl, urea: 181mg/dl, sodium: 140mmol/L, potassium: 5mmol/L, calcium: 14.1mg/dl, phosphorus: 5.6mg/dl, magnesium: 2.18mg/dl. Renal ultrasound showed: signs of bilateral chronic kidney disease. Given the suspicion of malignancy and awaiting the result of parathormone (PTH), the body CT in the emergency room showed a solid lesion at the neck level, located posteriorly and in contact with the left thyroid lobe, measuring 39 x 14 x 30 mm, contacted the trachea and partially displaced the esophagus to the right without infiltrating them, it maintained interface with the left carotid and jugular, suggesting parathyroid dependence; and incidentally, both adrenal glands were diffusely thickened, the left showed a nodular formation of 20 x 15 mm, with an attenuation of -10 HU. She was hospitalized, received hydration, furosemide and pamidronate, did not require renal replacement therapy. Intact PTH was 1114 pg/mL; it was possible to normalize the levels of calcium, phosphorus, magnesium, creatinine decreased to 2.53mg/dl. Sestamibi scintigraphy showed an image compatible with lower left parathyroid adenoma and bone densitometry showed osteoporosis with a high risk of fracture (left forearm (1/3): bdm= 0.475g/cm2, Tscore= -5.3, hip: bdm= 0.435g /cm2, tscore= -4.5). The patient underwent a lower left parathyroidectomy, where a 5x3.5cm parathyroid tumor was reported with an increased consistency of brown coloration; the pathology reported giant adenoma of the parathyroid gland with apoplexy. In the postoperative period, the intact PTH was 57 pg/ml, at the same time the functionality of the adrenal adenoma was ruled out. She developed hungry bone syndrome for which she receives calcium and calcitriol to this day. Some studies provided an unclear definition of hypercalcemic crisis as a serum calcium concentration >3.5 mmol/L, accompanied by signs and symptoms. A hypercalcemic crisis was first described in 1939 by Hanes, and is considered as an endocrine emergency and fatal in the absence of optimal treatment. The acute effects of PHPT on renal function are not well understood. Furthermore, non-oliguric acute kidney injury caused by refractory hypercalcemia requires emergent hemodialysis, which was not necessary in our patient.

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.

Charcot-Marie-Tooth disease type 4G (CMT4G) was first reported in Balkan Gypsies as a myelinopathy starting with progressive distal lower limb weakness, followed by upper limb involvement and prominent distal sensory impairment later in the patient's life. So far, CMT4G has been only reported in European Roma communities with two founder homozygous variants; g.9712G>C and g.11027G>A, located in the 5'-UTR of the HK1 gene. Here, we present the first Iranian CMT4G patient manifesting progressive distal lower limb weakness from 11 years of age and diagnosed with chronic demyelinating sensorimotor polyneuropathy. Whole-exome sequencing for this patient revealed a homozygous c.19C>T (p. Arg7*) variant in the HK1 gene. This report expands the mutational spectrum of the HK1-related CMT disorder and provides supporting evidence for the observation of CMT4G outside the Roma population. Interestingly, the same Arg7* variant is recently observed in another unrelated Pakistani CMT patient, proposing a possible prevalence of this variant in the Middle Eastern populations.

Study of clinical profile and outcome in children aged 1-12 years presenting with Guillain Barre syndrome

Background: Guillain-Barré syndrome (GBS) is a group of clinical syndromes involving acute polyneu­ropathy secondary to an immune-mediated process. The aim of the research is to study clinical profile and outcome in children aged 1-12 years presenting with GBS. Methods: It is a prospective plus retrospective observational study (5-year retrospective + 18 months prospective). All cases of GBS admitted from January 2020-july 2021 were enrolled for the study and retrospective cases were taken from case record from January 2015 onwards in a tertiary care centre. Results: Total 45 children were enrolled. The male: female ratio was 1.64:1. Mean age at presentation was 6.3 years, in a range of 1.5 -11.5 years of age. History of antecedent illness prior to the occurrence of GBS was present in 93.3% patients with upper respiratory tract infection being most common seen in 53.3% patients. Following variants of GBS were seen on NCV study performed in 34 patients, the most common was AIDP in 46.7% patients, followed by AMAN in 22.2% subjects and AMSAN in 6.7% patients. All children presented with lower limb weakness which progressed to involve upper limbs. Other associated features like bulbar cranial nerve involvement, respiratory muscle weakness, sensory symptoms and autonomic disturbance (arrythmia, hypotension, tachycardia, bradycardia) was observed in 30,12,7,16 patients respectively. Out of the total 45 patients, 12 patients required mechanical ventilation. Conclusions: Male predominance seen in GBS. AIDP the most common subtype of GBS. Respiratory distress and autonomic instability were associated with greater severity of Hughes disability score. Factors associated with poor outcome were sensory symptoms, autonomic instability, respiratory distress and bulbar cranial nerve involvement.

A rare presentation of a longitudinally extensive spinal cord lesion: a S5 Sacral Dural Venous Fistula (P2-5.020)

<h3>Objective:</h3> NA <h3>Background:</h3> Sacral dural arteriovenous (DAVF) are rare presentations of vascular malformations in the spine. The majority of dural arteriovenous fistulae arise from the thoracolumbar levels, however sacral AV fistulae are rare¹. <h3>Design/Methods:</h3> NA <h3>Results:</h3> We present a case of a 72 year old male with a 6 month history of progressive lower limb weakness with paraesthesia, lower back pain and bladder and bowel involvement. He had a T5 discectomy 3 months previously with no improvement in his symptoms. An initial magnetic resonance imaging (MRI) revealed a longitudinally extensive cord lesion. Cerebrospinal fluid was acellular with a raised protein of 1222 mg/L. A trial of intravenous steroids led to acute worsening of lower limb weakness. Spinal MRI showed a longitudinally extensive hyperintensity from T5 to the conus. Magnetic resonance angiography (MRA) revealed serpiginous flow voids along the dorsum of the cord, most prominent from T9- 12, likely representing a dural arteriovenous fistula. Spinal angiography showed a right sacral DAVF at the level of S5 supplied by the lateral sacral artery, which was successfully embolised. Clinically the patients motor weakness improved. <h3>Conclusions:</h3> Sacral DAVFs are rare presentations of dural AV fistulas. Unless the iliac arteries and lateral sacral arteries are routinely examined during spinal angiography, they may be missed. DAVF should always be considered in the differential for a longitudinally extensive myelopathy. <b>Disclosure:</b> Dr. Hunt has nothing to disclose. Dr. O Connell has nothing to disclose. Mahmoud Kamel has nothing to disclose. Gerald Wyse has nothing to disclose. Dr. O’Toole has nothing to disclose. Mr. Amoo has nothing to disclose.

The Natural History of Motor, Cognitive Development and Mood in Early Onset Hereditary Spastic Paraplegias (S34.001)

<h3>Objective:</h3> To study the natural history of motor, cognitive development and mood in early onset hereditary spastic paraplegias herein called e-HSP. <h3>Background:</h3> e-HSP is a heterogeneous group of ultra-rare genetic diseases with the uniting clinical feature of lower limb spasticity and weakness presenting in childhood. However, little is known of the early development and psychological manifestations of e-HSP. Here we outline 87 patients with e-HSP and their early childhood development, cognitive function and mood. <h3>Design/Methods:</h3> Retrospective analysis of 87 genetically confirmed e-HSP patients, the majority with SPG4 and SPG3A mutations. Patients were consented and clinical information was collected at each clinic visit including developmental history, school performance and mood. Patients and families were contacted or met with in person to validate missing data points. <h3>Results:</h3> Two thirds of patients with e-HSP were found to have average to high cognitive function and perform well academically. Even 50% of patients who also had a confounding diagnosis of a neurodevelopmental or learning disorder were able to enroll in regular and advanced placement courses in school. 25% of patients had attention deficit disorder. Many of the patients had reported experiencing sadness around their diagnosis and 25% of patients reported being diagnosed with an emotional disorder such as anxiety or depression. Within SPG3A, 8/18 required assistance with long distances including a walker or wheelchair. Within SPG4, patients with de novo mutations showed a severe early developmental disorder. However, no genetic differences could be discerned in patients who had motor progression to walker or wheelchair use. Other mutations of SPG were included in this cohort but limited n-values confounded analysis on specific mutations. <h3>Conclusions:</h3> For the majority of e-HSP patients, motor disorder is the predominant disease feature, but patients should be screened for attention deficit, anxiety, and depression. <b>Disclosure:</b> Dr. Christie has nothing to disclose. Ms. Marvel has nothing to disclose.