Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 15-year-old girl with the "MASS" phenotype (meeting several of the minor criteria for Marfan syndrome) presents with a new onset low-pressure postural headache. Clinical features and magnetic resonance imaging suggested intracranial hypotension, which was confirmed with lumbar puncture. The pathophysiology and treatment of spontaneous intracranial hypotension are discussed.
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PMID:New-onset headache in an adolescent with MASS syndrome. 1052 36

Marfan syndrome is a variable autosomal dominant disorder; most cases result from mutations of fibrillin-1. Diagnosis is guided by the Ghent nosology. The condition may manifest in the cardiovascular and ocular systems. Musculoskeletal manifestations include scoliosis, dural ectasia, protrusio acetabuli, and ligamentous laxity. Compared with patients with idiopathic scoliosis, patients with Marfan syndrome tend to have scoliosis that progresses at a faster rate and is more resistant to bracing; undergo scoliosis surgery complicated by greater blood loss, pseudarthrosis, and additional curvature; and have more frequent occurrences of dural ectasia, which may cause headaches, leg pain, or perineal pain. Protrusio acetabuli may result in hip joint arthritis and may require valgus osteotomy or total hip arthroplasty.
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PMID:Marfan syndrome. 1972 41

Ehlers-Danlos syndrome (EDS) is an umbrella term for a growing group of hereditary disorders of the connective tissue mainly manifesting with generalized joint hypermobility, skin hyperextensibility, and vascular and internal organ fragility. In contrast with other well known heritable connective tissue disorders with severe cardiovascular involvement (e.g., Marfan syndrome), most EDS patients share a nearly normal life span, but are severely limited by disabling features, such as pain, fatigue and headache. In this work, pertinent literature is reviewed with focus on prevalence, features and possible pathogenic mechanisms of headache in EDSs. Gathered data are fragmented and generally have a low level of evidence. Headache is reported in no less than 1/3 of the patients. Migraine results the most common type in the hypermobility type of EDS. Other possibly related headache disorders include tension-type headache, new daily persistent headache, headache attributed to spontaneous cerebrospinal fluid leakage, headache secondary to Chiari malformation, cervicogenic headache and neck-tongue syndrome, whose association still lacks of reliable prevalence studies. The underlying pathogenesis seems complex and variably associated with cardiovascular dysautonomia, cervical spine and temporomandibular joint instability/dysfunction, meningeal fragility, poor sleep quality, pain-killer drugs overuse and central sensitization. Particular attention is posed on a presumed subclinical cervical spine dysfunction. Standard treatment is always symptomatic and usually unsuccessful. Assessment and management procedures are discussed in order to put some basis for ameliorating the actual patients' needs and nurturing future research.
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PMID:Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. 2565 19