Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported of reversible panhypogammaglobulinemia in a human immunodeficiency virus (HIV)-infected patient. Onset and resolution were temporally correlated with initiation and termination, respectively, of diphenylhydantoin therapy for a possible seizure. A rapid alteration in peripheral T-cell subpopulations was also noted in association with diphenylhydantoin administration. This case is compared with previous reports of diphenylhydantoin-associated hypogammaglobulinemia in non-HIV-infected patients. In addition, the case is discussed with regard to possible deleterious effects associated with the use of diphenylhydantoin as therapy for HIV-associated seizures or as an antiretroviral agent in HIV disease.
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PMID:Diphenylhydantoin-induced hypogammaglobulinemia in a patient infected with human immunodeficiency virus. 201 95

A 34-year-old man had polar extremes of B cell dysfunction: systemic lupus erythematosus evolving into common variable hypogammaglobulinemia. He presented in 1974 with seizures and six other criteria for systemic lupus erythematosus; his antinuclear antibody titer was 1:1024 and IgG level, 2870 mg/dL. After 5 months of immunosuppressive treatment, a 79% decrease in serum IgG and 95% decrease in IgA levels occurred and manifestations of systemic lupus erythematosus disappeared. Six years later, he developed panhypogammaglobulinemia, had recurrent sinopulmonary infections, and showed nodular lymphoid hyperplasia on rectal biopsy. For comparison, serum immunoglobulin concentrations were measured serially in 13 other patients with systemic lupus erythematosus. Three developed severe depressions of these levels, two with IgG levels less than 300 mg/dL and one with an IgA level of 8 mg/dL. These decreases were transient, related to treatment, and not associated with infections. Daily high-dose prednisone therapy (60 mg/d) rather than treatment with cytotoxic drugs correlated with decreased immunoglobulin concentrations.
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PMID:Transition from systemic lupus erythematosus to common variable hypogammaglobulinemia. 685 20

We have observed a 26-year-old diabetic male who had been treated with carbamazepine because of seizures. After two months of treatment, he developed a severe illness with skin rash, fever, hepatomegaly and hypogammaglobulinaemia. Since hypogammaglobulinaemia is a rare side effect of carbamazepine treatment, a stop order was given for carbamazepine. The abnormalities (skin, fever, hypogammaglobulinaemia) remained until it appeared that the patient had secretly continued taking the drug. When drug administration was stopped the skin abnormalities improved and serum immunoglobulin levels became normal. The etiology of this transient carbamazepine-induced hypogammaglobulinaemia is unknown.
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PMID:A man with a mysterious hypogammaglobulinaemia and skin rash. 1021 85

We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the X chromosome resulted in a maximum LOD score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.
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PMID:X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. 1039 39

We report a pair of brothers who have leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. They have significant developmental delay, and brain MRIs demonstrate leukoencephalopathy, characterized by profound hypomyelination. They have developed arthritis, which in one brother has required chronic treatment; and persistent intermittent diarrhea, necessitating treatment for inflammatory bowel disease. Finally, they have had multiple hospitalizations, including several for sepsis; an immunological analysis revealed that they have IgG1-subclass hypogammaglobulinemia and low B cell levels. There is no family history of similar problems, and these brothers have an unaffected brother. We believe this constellation of symptoms represents a novel syndrome: LACH syndrome (leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia). The etiology of this syndrome remains unknown despite extensive investigations.
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PMID:Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome? 1521 57

Common variable immunodeficiency (CVID) is a primary disorder characterized by impaired antibody production. CVID patients may develop recurrent infections, autoimmune disorders, and malignant lymphomas, but to our knowledge, there is no report on CVID patients who develop acute disseminated encephalomyelitis (ADEM) or the Lennox-Gastaut syndrome. We describe a 1-yr-old female CVID patient with ADEM who evolutionally manifested the Lennox-Gastaut syndrome. She was admitted with convulsions and T2-weighted magnetic resonance imaging (MRI) revealed high-intensity areas in the right temporal lobe and the left fronto-parietal region but she became conscious soon. Her serum findings showed severe hypogammaglobulinemia and a follow up MRI revealed that these areas had diminished. Consequently, she was diagnosed as having CVID with ADEM. After 5 months, she fell to having tonic and absence seizures and we diagnosed her as having the Lennox-Gastaut syndrome from electroencephalograms (EEG) and the seizure pattern. She is now 7 yr old and her tonic seizures are controlled with valproic acid, clobazam, and immunoglobulin replacement therapy which is administrated every 2 wk. It is well known that the immune and neurologic systems have a close relationship. We suspect that a genetic defect in the immune system of our patient might also be associated with the neurologic disorders of ADEM and the Lennox-Gastaut syndrome.
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PMID:A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome. 1594 1

Three adult horses were evaluated for signs of musculoskeletal pain, dullness, ataxia, and seizures. A diagnosis of bacterial meningitis was made on the basis of results of CSF analysis. Because primary bacterial meningitis is so rare in adult horses without any history of generalized sepsis or trauma, immune function testing was pursued. Flow cytometric phenotyping of peripheral blood lymphocytes was performed, and proliferation of peripheral blood lymphocytes in response to concanavalin A, phytohemagglutinin, pokeweed mitogen, and lipopolysaccharide was determined. Serum IgA, IgM, and IgG concentrations were measured by means of radial immunodiffusion, and serum concentrations of IgG isotypes were assessed with a capture antibody ELISA. Serum tetanus antibody concentrations were measured before and 1 month after tetanus toxoid administration. Phagocytosis and oxidative burst activity of isolated peripheral blood phagocytes were evaluated by means of simultaneous flow cytometric analysis. Persistent B-cell lymphopenia, hypogammaglobulinemia, and abnormal in vitro responses to mitogens were detected in all 3 horses, and a diagnosis of common variable immunodeficiency was made.
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PMID:Common variable immunodeficiency in three horses with presumptive bacterial meningitis. 1601 46

We describe a 14-year-old boy with congenital bilateral cataracts, blepharophimosis, ptosis, choanal atresia, sensorineural hearing loss, short, webbed neck, poor esophageal motility, severe growth and mental retardation, skeletal anomalies, seizures, and no speech. As an infant, he had transient hypogammaglobulinemia requiring IVIG therapy. Cytogenetic studies show an apparently de novo visible duplication at 1p36.3. Fluorescence in situ hybridization (FISH) studies confirm that the common region for the 1p36 deletion syndrome (p58) is duplicated. Probes for D1Z2 at 1p36.3 and the subtelomeric region of 1p (TEL1p) are also duplicated. Array comparative genomic hybridization (aCGH) studies were done at three separate laboratories, each with somewhat different results. BAC whole genome array CGH suggests a single clone gain at the 1p terminus and a single clone deletion at 1p36.3. A targeted BAC array panel with higher resolution at the distal 1p36 region detects a telomeric duplication and an interstitial deletion. Oligonucleotide whole genomic aCGH shows the highest resolution and a more complex rearrangement: two duplications, an interstitial deletion, and a normal region. The MMP23A/B "matrix metalloproteinase 23A/B" genes are within the distal duplication region in our patient, and this patient does not have craniosynostosis. This is the first association of congenital cataracts, choanal atresia, and transient immune abnormalities with 1p36 duplication/deletion. This case illustrates the limitations of different cytogenetic technologies, and shows how three separate aCGH platforms allow for refined delineation and interpretation of the complex cytogenetic rearrangement which would not have been discovered by standard high-resolution chromosome analysis.
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PMID:Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation. 1892 66

We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia A, hyperlaxity of joints and premature breast development. This unique combination of anomalies, proposes to carefully investigate cases with KS patient in an attempt to determine their real frequency and in order to improve clinical management. Further, it raises a question about factors determining the variability in phenotypic expression among cases with KS. To our knowledge, this is the first case of KS to be reported from Egypt.
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PMID:Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination. 1899 Sep 87

A variety of autoantibodies have been identified with complex neurological disorders including limbic encephalitis. The underlying trigger for the immune-mediated process and the role of autoantibodies in the pathogenesis of limbic encephalitis remain to be clarified. Here, we report a 16-year-old female who was diagnosed with acute-onset non-neoplastic limbic encephalitis. The initial treatment with pulse doses of i.v. methylprednisolone improved the neurological symptoms. During the next 12 months, progressive decline was reported in her academic functioning and seizure control. Additional diagnostic evaluation revealed no evidence of malignancy or central nervous system infection but circulating anti-GAD antibodies were present in the serum and cerebrospinal fluid. Intravenous gammaglobulin infusion was initiated and continued monthly. Intravenous and oral steroids were added to the intravenous immunoglobulin treatment because of the worsening course and seizures, despite treatment with antiepileptic medications. Screening for quantitative immunoglobulins demonstrated hypogammaglobulinaemia with low immunoglobulin M and G in addition to low immunoglobulin A levels. There was a lack of protective pneumococcal antibody titers before and after immunization. Therefore, common variable immunodeficiency was suspected despite there being no history of recurrent infections. To our knowledge, this is the first report describing a possible link between immune-mediated limbic encephalitis and immune deficiency.
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PMID:Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. 1953 23


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