The neurological manifestations of antiphospholipid syndrome (APS) are diverse. Transverse myelitis (TM) is an uncommon, but well-known neurological complication of systemic lupus erythematosus (SLE). On the other hand, the reported cases associated with primary APS are extremely rare. To our knowledge, this is the first report of TM in a patient with primary APS in Korea. A 32-year-old male patient was admitted with the sudden onset of numbness, a tingling sensation, and weakness in both lower extremities. He had a 19 months history of external iliac and femoral arterial thromboses prior to admission. The laboratory results indicated the presence of anticardiolipin antibodies of the IgG class and lupus anticoagulant. No other autoantibodies were detected and there were no apparent clinical manifestations of SLE or multiple sclerosis. A T2-weighted magnetic resonance (MR) image showed swelling and increased intensity of the cervical and thoracic spinal cord between C6 and T7 with slight enhancement by contrast medium. After steroid pulse therapy, the patient's symptoms were gradually relieved and the abnormal findings on MR imaging disappeared.
Adult ; Antiphospholipid Syndrome/*complications ; Human ; Male ; Myelitis, Transverse/*etiology/therapy

Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2 months. Three day later, she had respiratory distress and consciousness. Cranial MRI revealed bilateral symmetrical lesion of pallidum, brain stem and spinal cord, indicating acute brainstem encephalitis and myelitis. Her blood propionylcarnitine (6.83 μmol/L vs normal range 1.0 to 5.0 μmol/L) and urinary methylmalonic acid (133.22 mmol/mol creatinine vs normal range 0.2 to 3.6 mmol/mol creatinine) increased significantly. Plasma total homocysteine was normal. On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type). After cobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine, progressive improvement has been observed. The clinical manifestation of patients with methylmalonic aciduria is complex. Metabolic study and gene analysis are keys for the diagnosis and treatment of the disorder.
Acute Disease ; Amino Acid Metabolism, Inborn Errors ; etiology ; Brain Stem ; pathology ; Child, Preschool ; Encephalitis ; etiology ; Female ; Humans ; Methylmalonyl-CoA Mutase ; genetics ; Mutation ; Myelitis ; etiology

The purpose of this study was to assess the feasibility and efficacy of stereotactic ablative radiotherapy (SABR) for liver tumor in patients with Barcelona Clinic Liver Cancer (BCLC)-C stage hepatocellular carcinoma (HCC). We retrospectively reviewed the medical records of 35 patients between 2003 and 2011. Vascular invasion was diagnosed in 32 patients, extrahepatic metastases in 11 and both in 8. Thirty-two patients were categorized under Child-Pugh (CP) class A and 3 patients with CP class B. The median SABR dose was 45 Gy (range, 30-60 Gy) in 3-5 fractions. The median survival time was 14 months. The 1- and 3-yr overall survival (OS) rate was 52% and 21%, respectively. On univariate analysis, CP class A and biologically equivalent dose > or = 80 Gy10 were significant determinants of better OS. Severe toxicity above grade 3, requiring prompt therapeutic intervention, was observed in 5 patients. In conclusion, SABR for BCLC-C stage HCC showed 1-yr OS rate of 52% but treatment related toxicity was moderate. We suggest that patients with CP class A are the best candidate and at least SABR dose of 80 Gy10 is required for BCLC-C stage.
Adult ; Aged ; Carcinoma, Hepatocellular/mortality/*radiotherapy ; Feasibility Studies ; Female ; Follow-Up Studies ; Humans ; Liver Failure/etiology ; Liver Neoplasms/mortality/*radiotherapy ; Male ; Middle Aged ; Myelitis/etiology ; Neoplasm Staging ; Prognosis ; Radiation Dosage ; Retrospective Studies ; Severity of Illness Index ; Stereotaxic Techniques ; Survival Rate

Transverse myelitis (TM) extending from midbrain to the entire spinal cord accompanied by internuclear ophthalmoplegia is extremely rare but cause serious central nervous system complications in patients with systemic lupus erythematosus. We report a case of a 28-yr-old woman with TM extending from the midbrain to the conus medullaris longitudinally and internuclear ophthalmoplegia associated with systemic lupus erythematosus. Her neurological symptoms had an abrupt catastrophic onset and rapidly progressed to respiratory failure within 24 hr. Bilateral internuclear ophthalmoplegia was also followed by TM. Brain MR images showed definite brainstem lesions, which were deeply associated with internuclear ophthalmoplegia, and diffuse signal changes in the whole spinal cord, medulla, pons and midbrain. Clinical improvement of her ophthalmoplegia and of neurological dysfunction of the upper extremities was noted after prompt and aggressive treatment with intravenous pulsed methylprednisolone and cyclophosphamide. However, the neurological dysfunction of the lower limbs and bladder and colon paralysis were almost unchanged until six months passed.
Adult ; Cyclophosphamide/therapeutic use ; Female ; Humans ; Lupus Erythematosus, Systemic/*complications ; Magnetic Resonance Imaging ; Myelitis, Transverse/diagnosis/drug therapy/*etiology ; Ocular Motility Disorders/diagnosis/drug therapy/*etiology ; Prednisolone/therapeutic use

Atopic myelitis is defined as myelitis with atopic diasthesis but the cause is still unknown. Toxocariasis is one of the common causes of hyperIgEaemia that may lead to neurologic manifestations. The purpose of this study was to evaluate the sero-prevalence of Toxocara specific IgG Ab among the atopic myelitis patients. We evaluated the medical records of 37 patients with atopic myelitis whose conditions were diagnosed between March 2001 and August 2007. Among them, the 33 sera were analyzed for specific serum IgG Ab to Toxocara excretory-secretory antigens (TES). All of 37 patients had hyperIgEaemia. Specific IgE to D. pteronyssinus and D. farinae was detected in 22 (64.7%) and 34 (100%) patients, respectively, of the 34 patients. Thirty-one of 33 patients (93.9%) were found to be positive by TES IgG enzyme-linked immunosorbent assay (ELISA). Based on the image findings of eosinophilic infiltrations in the lung and liver, 8 patients had positive results. These results inferred that the prevalence of toxocariasis was high in patients with atopic myelitis. Our results suggest that toxocariasis might be an important cause of atopic myelitis and Toxocara ELISA is essential for evaluating the causes of atopic myelitis.
Adult ; Albendazole/therapeutic use ; Animals ; Anthelmintics/therapeutic use ; Antibodies, Helminth/blood/immunology ; Humans ; Immunoglobulin E/blood/immunology ; Magnetic Resonance Imaging ; Middle Aged ; Myelitis/drug therapy/*etiology/*immunology/pathology ; Retrospective Studies ; Toxocara/*immunology ; Toxocariasis/*complications/drug therapy/*immunology/pathology ; Treatment Outcome ; Young Adult