scholarly journals Efficacy of methylprednisolone therapy in atypical Rolandic epilepsy with heterozygous RELN mutation

2019 ◽  
Author(s):  
Xiaoyue Hu ◽  
Miao Jing ◽  
Ying Hua
Keyword(s):  
Corticosteroid Therapy ◽  
Therapeutic Option ◽  
Gene Mutations ◽  
Pulse Therapy ◽  
High Dose ◽  
Rolandic Epilepsy ◽  
Whole Exome ◽  
Suitable Treatment ◽  
One Year ◽  
Intravenous Methylprednisolone Pulse

Abstract Background: Atypical Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BECTS) variant is defined by the appearance of severe neuropsychological impairments and refractory epilepsy. The etiology of the disease remains unclear, and recent studies indicated that it is related to several gene mutations. The suitable treatment is also need to be further explored. Here, we present the case of a 9-year-old boy with BECTS variant found to have heterozygous RELN mutation, responded well to the corticosteroid therapy. Case presentation: A 9-year-old male patient with atypical benign Rolandic epilepsy was successfully treated with high-dose intravenous methylprednisolone pulse therapy (15 mg/kg daily for 3 consecutive days, and the infusion was repeated three times with a 4-day interval between each course). The treatment improved his electroencephalogram (EEG) and cognitive performance, reduced seizure frequency, and the effect maintained for one year of follow-up. Whole-exome sequencing (WES) revealed a meaningful heterozygous missense mutation in the RELN gene. Conclusion: We conclude that corticosteroid therapy should be considered as a therapeutic option in patients with BECTS variant who are also found to harbour RELN mutations.

Treatment of Graves' ophthalmopathy with high-dose intravenous methylprednisolone pulse therapy

1987 ◽  
Vol 116 (4) ◽  
pp. 513-518 ◽  
Author(s):  
Yuji Nagayama ◽  
Motomori Izumi ◽  
Takeshi Kiriyama ◽  
Naokata Yokoyama ◽  
Shigeki Morita ◽  
...  
Keyword(s):  
Sodium Succinate ◽  
Total Duration ◽  
Pulse Therapy ◽  
Methylprednisolone Pulse Therapy ◽  
High Dose ◽  
Methylprednisolone Pulse ◽  
Methylprednisolone Sodium Succinate ◽  
Graves Ophthalmopathy ◽  
Preliminary Study ◽  
Intravenous Methylprednisolone Pulse

Abstract. This preliminary study was undertaken to investigate the efficacy of high-dose iv methylprednisolone pulse therapy in 5 patients with Graves' ophthalmopathy. One gram of methylprednisolone sodium succinate was given iv daily for 3 successive days. The 3-day infusion was repeated 3 to 7 times at intervals of 1 week; total duration of pulse therapy was 3 to 7 weeks. The clinical improvement of eye involvements by pulse therapy was assessed immediately after the last pulse therapy. The clinical assessment of the effect of pulse therapy for Graves' ophthalmopathy showed a good response in 3 patients, a fair response in one, and no response in one. However, in one patient, who was judged to show no response, complete improvement of the enlarged extraocular muscle was observed on orbital computed tomography. Moreover, two patients, who have been followed without any other therapies, showed no relapse of eye involvements for 32 and 10 months, respectively. Although it is impossible to determine whether pulse therapy is more effective than other immunosuppressive therapies, the results of this preliminary study suggest that pulse therapy may be a good immunosuppressive therapy for Graves' ophthalmopathy too. Controlled studies are desired.

High-dose intravenous methylprednisolone pulse therapy in systemic lupus erythematosus

1981 ◽  
Vol 70 (4) ◽  
pp. 817-824 ◽  
Author(s):  
Robert P. Kimberly ◽  
Michael D. Lockshin ◽  
Raymond L. Sherman ◽  
J.Steven McDougal ◽  
Robert D. Inman ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Pulse Therapy ◽  
Methylprednisolone Pulse Therapy ◽  
High Dose ◽  
Systemic Lupus ◽  
Intravenous Methylprednisolone ◽  
Methylprednisolone Pulse ◽  
Intravenous Methylprednisolone Pulse

scholarly journals Discontinuation of Hemodialysis in a Patient with Anti-GBM Disease by the Treatment with Corticosteroids and Plasmapheresis despite Several Predictors for Dialysis-Dependence

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
Yoshihide Fujigaki ◽  
Chikayuki Morimoto ◽  
Risa Iino ◽  
Kei Taniguchi ◽  
Yosuke Kawamorita ◽  
...  
Keyword(s):  
Renal Function ◽  
Basement Membrane ◽  
Corticosteroid Therapy ◽  
Kidney Biopsy ◽  
Pulse Therapy ◽  
High Dose ◽  
Crescent Formation ◽  
Initial Infection ◽  
Corticosteroid Pulse Therapy

A 26-year-old man highly suspected of having antiglomerular basement membrane (GBM) disease was treated with corticosteroid pulse therapy 9 days after initial infection-like symptoms with high procalcitonin value. The patient required hemodialysis the next day of the treatment due to oliguria. In addition to corticosteroid therapy, plasmapheresis was introduced and the patient could discontinue hemodialysis 43 days after the treatment. Kidney biopsy after initiation of hemodialysis confirmed anti-GBM disease with 86.3% crescent formation. Physician should keep in mind that active anti-GBM disease shows even high procalcitonin value in the absence of infection. To pursue recovery of renal function, the challenge of the immediate and persistent treatment with high-dose corticosteroids plus plasmapheresis for highly suspected anti-GBM disease is vitally important despite the presence of reported predictors for dialysis-dependence including oliguria and requiring hemodialysis at presentation.

Serial Serum Cytokine Measurement in a Patient with Systemic Scleromyxedema.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 5100-5100
Author(s):  
Timothy Devos ◽  
Wouter Meersseman ◽  
Benedicte Dubois ◽  
Jozef Goebels ◽  
Gregor Verhoef ◽  
...  
Keyword(s):  
Plasma Cells ◽  
Serum Levels ◽  
Skin Lesions ◽  
Pulse Therapy ◽  
High Dose ◽  
Serum Samples ◽  
Hematopoietic Stem ◽  
Pre Treatment ◽  
One Year ◽  
High Dose Melphalan

Abstract Systemic scleromyxedema (SSME) is a generalized and rare variant of lichen myxedematosus and is characterized by cutaneous papular mucinous deposits and extracutaneous manifestations. In 80% of the cases, SSME is associated with a monoclonal gammopathy and in approximately 10% with multiple myeloma. Pulmonary, gastrointestinal, rheumatologic and severe neurologic complications have been described. Clonal plasma cells are thought to stimulate excessive fibroblast proliferation resulting in the clinical presentation of this disorder, but little is known about the cytokine-mediated crosstalk between the monoclonal plasma cells and fibroblasts. For that purpose, we have sequentially measured the serum levels of the cytokines VEGF, FGF-b, TGF-b1 and IL-6 in a 39-year old male patient diagnosed with SSME and an IgG kappa paraprotein. The patient presented with repeated generalized epileptic insults, cognitive impairment, and progressively developed thickened skin furrows at the level of the glabella. The diagnosis of SSME was histologically proven. A transient neurologic improvement was seen after plasmapheresis and dexamethason pulse therapy and stem cells were subsequently mobilized with the CAD regimen (cyclophosphamide, adriamycin, dexamethason) and readministered after high dose melphalan. The neutropenic phase was complicated by sepsis and progressive neurological deterioration, after which the decision was taken to start with thalidomide at the dose of 200 mg/d. The patient gradually improved and one year later his cognitive function has normalized and the skin lesions have disappeared. A small M-spike remains visible on serum electrophoresis. Levels of VEGF, FGF-b, TGF-b1 and IL-6 were quantified by ELISA on platelet-poor serum and were measured at diagnosis and at six and twelve months after transplantation. Compared to the high pre-treatment levels of all four cytokines, a decrease was observed during the months after transplantation and at six months. Table 1: serum levels of VEGF, b-FGF, TGF-b1 and IL-6 in a patient with SSME before ASCT 6 months after ASCT one year after ASCT value = mean of 5 serum samples +/− SD VEGF (pg/ml) 227,87 (+/−33,3) 110,81 (+/−24,8) 189,61 (+/−13,5) b-FGF (ng/ml) 17,77 (+/−0,32) 1,93 (+/−0,29) 1,64 (+/−0,37) TGF-b1 (ng/ml) 37,94 (+/−1,21) 20,45 (+/−0,85) 18,95 (+/−0,49) IL-6 (pg/ml) 92,82 (+/−3,2) 33,2 (+/−5,3) 32,0 (+/−4,5) One year after administration of high-dose melphalan and autologous hematopoietic stem cell transplantation (ASCT), the serum levels of FGF-b, TGF-b1 and IL-6 remain low. Remarkably, since the dose of thalidomide has been tapered because of persistent ulnar neuropathy, the serum concentration of VEGF is increasing but not reaching the pre-transplant levels. We conclude from this report that serum levels of VEGF, FGF-b, TGF-b and IL-6 follow the clinical evolution in this patient with SSME, suggesting a role for these cytokines in the pathogenesis of SSME.

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