Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The objective of the study was to examine the clinical features of lupus patients who present with transverse myelopathy (TM) and ascertain functional outcomes when treated early with high dose corticosteroids and/or cyclophosphamide. Case records of nine patients who developed a total of 14 episodes of TM were retrospectively studied. All the patients were female and their ages ranged from 21 to 59 years. Nine episodes of paraparesis, three of tetraparesis, one of numbness and one of neurogenic bladder were reported early in the diagnosis of SLE (median of two years). Neurogenic bowel and bladder and presence of ANA and ds-DNA were invariable. Urodynamics assessment in six patients showed abnormal detrusor behavior in all. CT scans and myelograms were uninformative and CSF studies were normal. ESR and complement levels were insensitive as markers of disease activity. The treatment regimens included pulses of methylprednisolone and/or cyclophosphamide followed by prednisolone and high dose prednisolone from onset. The functional outcomes were uniformly good-with independent ambulation in all except three (who needed assistive devices) and improvement of motor scores. Acute hospital stays were short (range of three to 45 days) whilst only two were referred for inpatient rehabilitation. Bladder abnormalities persisted despite motor recovery and would require long-term review.
Lupus 1996 Aug
PMID:Transverse myelopathy in SLE: clinical features and functional outcomes. 886 1

Myelopathy is a rare central nervous system (CNS) complication associated with systemic lupus erythematosus (SLE). Acute transverse myelitis (ATM) is the most frequent form of SLE-related myelopathy. Magnetic resonance imaging (MRI) typically shows increased signal intensity in T2-weighted images and cord swelling. In the present paper, we describe six cases of SLE-related myelopathy with multiple increased signals in the T2-weighted images involving continuous levels of the cervical and thoracic spinal cord, a distinctive feature recently named 'longitudinal myelitis'. The clinical and laboratory findings are similar to those presented by ATM patients, including paraparesis, sensory level and sphincter disturbances. Four patients had positive antiphospholipid antibodies (aPL) suggesting that this could be a characteristic of longitudinal myelitis. Treatment in all cases included high doses of corticosteroids and immunosuppressive agents (intravenous (i.v.) cyclophosphamide). Anticoagulation therapy was given to one patient and two others received low doses of aspirin. The outcome was mainly unfavorable with slow improvement in only one case, no improvement in two and relapse of the myelopathy in the remaining three. In conclusion, longitudinal myelitis is an unusual form of SLE-related myelopathy, it might be associated with aPL and it has a poor prognosis.
Lupus 2001
PMID:Longitudinal myelitis associated with systemic lupus erythematosus: clinical features and magnetic resonance imaging of six cases. 1178 74

Methylprednisolone and cyclophosphamide pulse therapies are the most commonly used for transverse myelopathy in neuropsychiatric lupus. Little is known about the efficacy of other immunosuppressors. We describe the case of a 33-year-old woman with systemic lupus erythematosus, who developed a tranverse myelopathy, beginning with a hiccup due to involvement of the medulla oblongata; despite pulses of methylprednisolone plus azathioprine and cyclosporine therapy, she developed paraparesis with involvement of the cervical spine cord. After oral cyclophosphamide, the lesion remained active. Subsequent therapy with mycophenolate mofetil and continuous intravenous infusions of dexamethasone resulted in reduction of the lesion's size, disappearance of magnetic resonance imaging enhancement, and a complete recovery.
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PMID:Mycophenolate mofetil and intravenous dexamethasone in the treatment of persistent lupus myelitis. 1734 3

Spinal epidural hematoma (SEH) is a rare acute condition defined as a hematoma occurring at spinal epidural level. It is defined as "spontaneous" (SSEH) when possible causes have been ruled out; in other cases, clotting disorders and systemic lupus erythematosus have been associated with SEH. If identified rapidly, SEH can be completely cured, with complete recovery in about 50% of cases. We describe the case of an 86-year-old man affected by SEH, with rare anterior location, presenting with painful paraparesis and bladder dysfunction. The patient was taking warfarin for chronic atrial fibrillation. A prolongation of partial thromboplastin time was observed, consistent with the presence, in plasma, of previously unrecognized lupus anticoagulant antibodies (LA). The diagnosis of SEH was confirmed by MRI, and the patient was not surgically treated. Following a rehabilitation program, the patient had complete neurological recovery. Although the epidural lesion might have been a true case of SSEH, anticoagulation therapy and AL may have played a role in the pathogenesis, spread and spontaneous resolution of SEH. In cases of acute thoracic pain, associated with signs and symptoms of spinal cord compression, the diagnosis of SEH, which is a potentially devastating condition, must be carefully investigated by clinicians.
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PMID:Spinal anterior epidural hematoma in an elderly man with unrecognized lupic anticoagulant taking warfarin. 2252 84

A 39-year-old woman with a history of systemic lupus erythematosum developed an acute abdomen. An intestinal ischemia was suspected and an exploratory laparotomy was performed. No abnormalities were found during surgery and five days later the patient was transferred to our institution. On admission, the patient presented a distended abdomen and paraparesis. The spinal tap showed hemorrhagic CSF and the MRI a subacute subarachnoid hemorrhage (SAH) of the dorsal-lumbar spine. Two days later, the patient suffered an episode of sudden headache. The CT scan revealed an acute SAH at the posterior fossa and digital subtraction angiography a dissection of the right V4 segment. Spinal subarachnoid hemorrhage is a rare syndrome particularly when associated with dissecting aneurysms of the intracranial segment of the vertebral artery. SSAH should be considered early in the differential diagnosis of any case with sudden back or abdominal pain of unknown etiology, even in the absence of neurological deficits.
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PMID:Spinal subarachnoid hemorrhage mimicking an acute abdomen. 2402 18

An adult male Italian wolf (Canis lupus italicus) was presented with an abnormal gait. Neurologic examination showed thoracic kyphosis, paraparesis, decreased proprioception in the pelvic limbs, and normal spinal reflexes. Neurologic symptoms suggested a thoracolumbar spinal cord lesion. Pathologic findings included leukocytosis. Spinal radiographs revealed ventral spondylosis of T4/T5/T6, a poorly defined intervertebral disc space, and mild lysis of the vertebral margins. Multiple metallic foreign bodies were seen in the thoracic wall. Magnetic resonance imaging of the spine detected increased signal intensity on fluid sensitive sequences of the vertebral bodies, the intervertebral disc, and surrounding soft tissues. These findings were interpreted as active discospondylitis at T4/T5. Medical therapy included antibiotic and analgesic treatment as well as movement restriction. Follow-up at 4 wk showed significant clinical and radiologic improvement. Discospondylitis should be included in the differential diagnosis in wolves with paresis.
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PMID:Clinical and diagnostic imaging findings in an Italian wolf (Canis lupus italicus) with discospondylitis. 2445 75

A 39-year-old female with systemic lupus erythematous (SLE) presented with fever, headaches and rash and was treated with empiric antibiotics for a presumable meningitis. However, cerebrospinal fluid turned out to be sterile and fever persisted with onset of hyporeflexive paraparesis with sensory loss below D10. Magnetic resonance imaging (MRI) demonstrated intradural-extramedullary hematoma (related to traumatic lumbar puncture), which was successfully drained. Subsequent surgical scar infection occurred and was treated accordingly. Due to persistent deficits and urinary retention development, she repeated MRI, which showed holocord abnormal T2 hyperintensity. After excluding other causes, SLE-associated longitudinal extensive transverse myelitis was diagnosed and treated with high-dose steroids and intravenous human immunoglobulin (IVIG), with reduction in intensity and extension of abnormal T2 signal within only one week. Monthly IVIG was kept for 6 months with progressive ability to walk and MRI findings resolution in 3 months. Four months after IVIG suspension no recurrence occurred.
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PMID:Intravenous human immunoglobulin for the treatment of severe longitudinal extensive transverse myelitis associated with systemic lupus erythematous. 3009 60

Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer's disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these are inherited in autosomal dominant fashion via pathogenic polymorphisms in three genes- APP, PSEN-1, and PSEN-2. Despite genotypic clarity, however, phenotypic variability exists with different symptom constellations observed in patients with identical mutations. Below, we present a case of a 39-year-old male with a family history for early onset dementia who was referred to our department with anamnesis for abrupt behavioral change 7 months prior to hospitalization-noticeable slowing of speech and reactivity, impaired occupational functioning and irritability, followed by aphasic symptoms and transient episodes of disorientation. He was followed up for 2 years and manifested rapidly progressing cognitive decline with further deterioration of speech, apraxia, acalculia, ataxia, and subsequently bradykinesia and tremor. Based on the clinical and neuroimaging findings (severe cortical atrophy), familial EOAD was suspected and a whole exome sequence (WES) analysis was performed. It identified a heterozygous missense variant Leu424Val (g.71074C > G) in PSEN-1 gene considered to be pathogenic, and only reported once until now in a Spanish patient in 2009. Despite genotype identity however, distinct phenotypic presentations were observed in the two affected subjects, with different neuroimaging findings, and the presence and absence of seizures in the Spanish and Bulgarian case, respectively. Besides, myoclonus and spastic paraparesis considered "typical" EOAD clinical features were absent. Age of symptom onset was consistent with two of the reported mutations affecting 424 codon of PSEN-1 gene and significantly earlier than the other two implying that factors influencing activity of PSEN-1 pathological forms are yet to be clarified. Furthermore, our patient had co-occurring lupus erythematosus (LE) and we suggest that this condition might be etiologically linked to the PSEN-1 mutation. In addition to illustrating the symptomatic heterogeneity of PSEN-1 caused EOAD, our study confirms that in patients presenting with early cognitive deterioration and family history for dementia, WES can be especially informative and should be considered as a first-line examination.
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PMID:A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD. 3192 Jul 35

Lupus myelitis is a rare but serious condition characterized by myelopathy in patients with systemic lupus erythematosus (SLE). Its presentation is usually acute or subacute, and it is often refractory to treatment. We reported a rare presentation of lupus myelitis in a 38-year-old Japanese woman with a 20-year history of SLE. She developed paraparesis and bladder/bowel dysfunction 6 months prior to presentation. Magnetic resonance imaging revealed atrophy of the entire thoracic spinal cord with high intensity on T1-weighted sequence. She was initially treated with intravenous pulse steroid therapy, and prednisolone (20 mg/day) was continued; mizoribine was changed to azathioprine (100 mg/day). In addition, she underwent a rehabilitation program to improve lower-extremity muscle weakness. Moreover, because of the refractory clinical condition, intravenous cyclophosphamide pulse therapy was added. Within 1 month, she could walk with a cane and had a desire to urinate and defecate. In conclusion, early and aggressive treatment improves the permanent damage of lupus myelitis.
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PMID:A successful case of lupus myelitis treated with intravenous pulse methylprednisolone and pulse cyclophosphamide therapy. 3286 25