ABSTRACT
We report the case of a 12- year-old Japanese boy who was receiving cyclosporine (Cs A) for steroid-dependent nephrotic syndrome despite a prior episode of Cs A-associated posterior encephalopathy. At the third relapsing of nephrotic syndrome, Cs A was initiated. Eight days after the Cs A therapy, the boy was admitted to the University Hospital of Tsukuba because of generalized convulsion. Magnetic resonance imaging (MRI) showed hyperintense lesions involving the bilateral parieto-occipital region. Cs A was discontinued, and cyclophosphamide was started. The boy had a 6-month drug-free period after the cyclophosphamide treatment and then relapsed three more times in the following 5 months. As the prednisolone dosage could not be decreased to less than 2 mg/kg/48 h, the patient was re-challenged with Cs A 1 1/2 years later. Blood pressure and serum Cs A levels were measured frequently, an anti-hypertensive drug was given, and MRI was done four times to detect hyperintense lesions. He has been receiving Cs A for 9 months, and MRI has revealed no abnormalities. At the latest follow-up, dated 12 April 2004, he was in a remissive state of nephrotic syndrome. This is the first report of giving Cs A to a nephrotic child who had a previous history of Cs A-associated posterior encephalopathy.
Subject(s)
Cyclosporine/administration & dosage , Immunosuppressive Agents/administration & dosage , Nephrotic Syndrome/drug therapy , Neurotoxicity Syndromes/etiology , Anti-Inflammatory Agents/administration & dosage , Child , Cyclosporine/adverse effects , Humans , Immunosuppressive Agents/adverse effects , Magnetic Resonance Imaging , Male , Neurotoxicity Syndromes/pathology , Prednisolone/administration & dosage , Recurrence , Remission InductionABSTRACT
The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures. A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) was also noted. We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects. The R188W mutation was not found. There were no significant differences in genotype or allele frequencies of the R19K polymorphism between groups. Our study failed to provide evidence supporting a causal relation between the SCN2A mutation/polymorphism and FS or FS associated with afebrile seizures including GEFS+ in the Japanese population.
