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)

We report a case of a 47-year-old man with anti-phospholipid antibody syndrome associated with subdural hematoma. The patient had several episodes of arthritis during his thirties. He developed venous thrombosis in his right lower leg at the age of 35, when laboratory studies demonstrated prolongation of activated partial thromboplastin time (APTT) and a biological false-positive result occurred on a syphilis test. When bulbar palsy and Horner's syndrome in the right eye suddenly appeared at the age of 42, he was diagnosed as having brain stem infarction. At the age of 47, he developed constructional apraxia, dyscalculia, skilled movement disturbances and generalized convulsions. Subdural hematoma and multiple lacunes in the cerebral white matter were demonstrated with brain MRI. Furthermore, the patient was positive for Rumpel-Leede phenomenon. Laboratory studies revealed mild thrombocytopenia, prolonged bleeding time and APTT, positive antinuclear antibody and positive test results for both lupus anticoagulant and an anti-cardiolipin antibody, namely anti-phospholipid antibodies. Based on these findings, we consider that the tendency of this patient to bleed may have been due to antiphospholipid antibodies, attacking the platelet membranes and that the bridging veins in the subdural space may be the site at which the bleeding tendency easily appears. Anti-phospholipid antibody syndrome accompanied by hemorrhagic complications had rarely been reported. We suggest that special attention should be given to hemorrhagic complications in patients with anti-phospholipid antibody syndrome associated with fragility of the vessels and/or platelet dysfunction.
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PMID:[A case of anti-phospholipid antibody syndrome associated with subdural hematoma]. 180 71

A 50-year-old man with systemic lupus erythematosus developed organic brain syndrome. He responded to corticosteroid therapy and recovered completely from acalculia, apraxia and memory disturbance. Throughout his course, the cerebrospinal fluid (CSF) IgM, IgA and IgG indices were decreased in relation to the progression of normal alpha activity in the electroencephalogram. CSF Ig indices may be useful for monitoring central nervous system lupus disease activity.
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PMID:A serial study of changes in intrathecal immunoglobulin synthesis in a patient with central nervous system systemic lupus erythematosus. 343 May 11

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