Larsen like syndrome- lethal type
Overview
A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
Symptoms
* Multiple joint dislocations * Respiratory insufficiency * Tracheomalacia * Underdeveloped lung * Flat face * Abnormal palmar creases * Reduced muscle tone * Short stature * Prominent forehead * Cleft palate * Kyphosis * Short limbs * Narrow rib cage * Extra little fingers * Spina bifida occulta * Fused ankle bones
Causes
* Infectious –Reactive arthritis (postenteric or genital including Reiter syndrome, postviral, poststreptococcal) –Acute rheumatic fever (ARF): Migratory, painful; usually affects large joints; diagnosis is based on Jones criteria, which includes five major (arthritis, carditis, Sydenham chorea, erythema marginatum, subcutaneous nodules) and several minor (fever, arthralgia, elevated ESR or CRP, prolonged P-R interval) manifestations –Lyme disease: Arthritis is monoarticular or oligoarticular, is rarely symmetric, and is the second most common manifestation of Lyme disease after erythema migrans –SBE-related arthritis –Septic polyarthritis (unusual) * Rheumatic –Polyarticular JRA: Arthritis in five or more joints in first 6 months of disease, insidious onset, symmetric involvement, may be RF+ (erosive, similar to adult RA) or RF- –Systemic-onset JRA: Presents with severe systemic involvement (fever, rash, serositis), which may precede the arthritis, usually oligoarticular –Juvenile ankylosing spondylitis (JAS): Initially affects lower extremity joints; later affects axial skeleton, also affects tendons –Psoriatic arthritis –Arthritis of IBD: Usually more transient than JRA –SLE: May present only with arthritis, may be misdiagnosed as JRA –Other connective tissue diseases (scleroderma) –Vasculitis (HSP, Kawasaki disease) * Malignancy such as leukemia * Other systemic disorders: Serum sickness, sarcoidosis, Behçet disease, Ehler-Danlos syndrome, mucopolysaccharidoses, Noonan syndrome, Turner syndrome * Medications (minocyline, carbamazapine) * Sickle cell disease
Treatment
* Even though unlikely, if septic arthritis (such as with Neisseria gonorrhoeae) is a possibility, antibiotic treatment should be started immediately * Appropriate treatment of malignancy * NSAIDs for JRA and spondyloarthropathies as an initial therapy; disease-modifying antirheumatic drugs (DMARDs) such as sulfasalazine and methotrexate, and biologics (e.g., TNF blockers) are added depending on clinical response * Specific treatments of other mixed connective tissue diseases depending on their severity * Corrective and/or supportive medical/surgical interventions * Supportive therapy such as PT and OT to increase range of motion and strength; insoles to correct leg length discrepancy * Psychosocial support especially with chronic diseases