Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8.32 mg/dL, immunoglobulin E <17.5 mg/dL), elevating immunoglobulin M (immunoglobulin M = 140 mg/dL), and decreasing T-cell expression of the CD40 ligand over flow cytometry. Seizure episodes and hypotonia developed with greater signal intensity at the putamen in a brain magnetic resonance imaging, which is compatible with hypoxic ischemic encephalopathy. This is the youngest proven case of hyper-IgM syndrome in Taiwan ever reported.
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PMID:Hyper-IgM syndrome: a case report. 1458 69

Infectious diseases belong to the most frequent reasons to seek emergency care. Life-threatening infectious emergencies, which require rapid diagnosis and hospitalisation, are, however, rare. Leading signs and symptoms are high fever combined with rapidly deteriorating general conditions, hypotonia, tachycardia, tachypnea, dyspnea, confusion, headache, or petechia or information about asplenia, immunosuppression or recent travel to the tropics. Life threatening situations, such as suspicion of invasive meningococcal infection or bacterial infection in an asplenic patient, septic-toxic shock, and acute bacterial meningitis with delayed hospitalisation require rapid start of empiric antibiotic therapy in the outpatient practice. In addition, acute infectious emergencies comprise situation for which post exposure prophylaxis is indicated.
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PMID:[Acute infectious emergencies in adults in medical practice]. 1599 31