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 describe a 15-year-old girl with systemic lupus erythematosus (SLE) who presented with hypocalcemia and a generalized seizure in the setting of an intercurrent illness and active central nervous system lupus. She was subsequently found to have idiopathic hypoparathyroidism. The association of SLE with hypoparathyroidism is extremely rare and this case represents the first pediatric report of this rare association. We suggest there may be a common underlying pathophysiological process linking these diseases.
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PMID:Hypoparathyroidism associated with systemic lupus erythematosus. 859 61

Epileptic seizures may be an early symptom of systemic lupus erythematosus, while at the same time some of the epileptic drugs, namely carbamazepine (CBZ), phenytoin (PHT), valproic acid (VPA), ethosuximide (ETM), primidone (PRM), lamotrigine (LTG), zonisamide (ZNS) can cause lupus. A separate clinical problem is the fact that few cases of systemic lupus have as yet been identified by giving antiepileptic drug. We present the case of a 30-year-old woman with frequent simple partial seizures and few secondarily generalized seizures since the age of 18. She was treated with VPA for three years. Then, because of side effects the drug had to be withdrawn and was replaced by CBZ. After eight months duration of the treatment with CBZ, the dose was increased because a secondarily generalized seizure occurred again. After another two months, painful swelling of all joints and leucopenia were observed. During additional studies, LE cells and high titer of ANA antibodies were found. Systemic lupus erythematosus was diagnosed and prednisone therapy was introduced. In spite of the withdrawal of CBZ, the increased titer of ANA antibodies persisted for several years and skin and muscle biopsy performed five years from the onset of clinical symptoms disclosed inflammatory infiltration and presence of IgG and IgM deposits in skin and vessel walls. Control serological examinations, skin and muscle biopsy carried out after eight years of observation and lack of clinical manifestations permitted to exclude a connective tissue disease in our patient.
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PMID:[Carbamazepine-induced systemic lupus erythematosus--a case report]. 1662 12

An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
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PMID:A dysmorphic child with a pericentric inversion of chromosome 8. 2260 36

Systemic Lupus Erythematosus (SLE) is a connective-tissue disorder commonly affecting females of reproductive age group. Lupus Cerebritis is a serious neurological complication encountered in a good percentage of SLE cases. In this report, we discuss two Lupus Cerebritis patients, who were successfully diagnosed and treated. The first case, presented with generalized seizure, severe metabolic acidosis, and shock, with a history of fever of one-month duration. The second case manifested with an attack of generalized seizure after suffering from low-grade intermittent fever and joint pains for a duration of one-and-a-half months. Central Nervous System (CNS) involvement in SLE is caused by an inflammatory response of the autoimmune system, precipitated by an increased concentration of cytokines. Prompt identification of Lupus Cerebritis is extremely difficult, mainly because there is no single laboratory or radiological confirmatory test. Assessment of the clinical features and neurological signs, along with detection of antibodies in the serum and cerebrospinal fluid are necessary to arrive at a diagnosis. Lupus Cerebritis should be included in the provisional diagnosis of a female patient of reproductive age group, who presents with complicated neurological manifestations and with no clear-cut clinical, pathological, or image finding.
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PMID:Two case reports indicating the dilemma in diagnosing lupus cerebritis. 2447 62