Limping Child and Marfan Syndrome Flashcards
What may result in a limping child?
Arthralgia and arthritis leading to ataxia secondary to acute suppurative process or transient sterile inflammation of hip synovium.
What is the aetiology of a limping child?
Septic arthritis (SA): joint infection II to pyogenic bacteria form translocation (osteomyelitis) or haematogenous spread. Most common Staph Aureus, less Strep pyogenes, pneumoniae, E coli etc. Any joint.
Transient synovitis (TS): Unknown aetiology, unilateral presentation, preceding viral infection especially URTI, ligamentous or minor capsular trauma. Viral aetiology suspected if high serum IFN levels and history.
Related to URTI, pharyngitis, bronchitis, otitis and osteomyelitis.
What is the epidemiology of a limping child?
SA 6/100k.
TS most common cause of hip pain in children 3-10.
What would be present in the history of a limping child?
General: unwell, pain, septicaemia with SA.
Pain: elicited on palpation
Limp: painless limp or ataxic gait (TS) painful (SA) even when non weightbearing.
Pyrexia mild, with TS >38.
What would be present in the examination of a limping child?
Look: leg may be held in felxion and internal rotation. No length difference.
Feel: pain elicited.
Move: pain on passive movement and mild restriction.
Leg roll: patient supine, roll from side to side, guarding occurs on one side.
What investigations would you do for a limping child?
Exclude SA:
· Bloods: WCC, CRP, ESR
· Microbiology: blood and urine cultures.
AP and FL XR: Medial joint space wider in affected hip, increased teardrop distance (excess fluid) Walderstrom sign. Exclude occult fracture and osteoma/
US: intracapsular effusion
Aspiration: cell count gram stain. >50k cells with 90% PMN. High proteoglycans in TS.
Kocher criteria: four predictors: hx of fever, non weight bearing, ESR>40, WCC>12k. Predicts chance of septic arthritis – presence of 1 is 3%, 2 is 40%, 3 is 93%
What is the management of a limping child?
SA: organism identification – IV antibiotics and joint lavage. Possible CVC.
TS: conservative, rest, heat therapy, NSAID
What are the complications of limping child?
SA<2y: high complications. Chondrolysis, limb deformity, osteoporosis, secondary infections, overgrowth of greater trochanter.
TS: no long term sequelae. ? Perthes disease chance.
Self limiting, SA excellent with appropriate dx and tx.
What is Marfan’s syndrome?
AD inherited disease of the connective tissue.
What is the aetiology of Marfan’s syndrome?
Commonest cause is FBN1 mutation in 15q21. Occasionally in TGFBR1/2 in Chr9/3. Wide spectrum of mutations, and wide spectrum in clinical presentation. Due to highly fraying microfibrils. Microfibrin is a substrate for elastin and component of CTs.
What is the epidemiology of Marfan’s Syndrome?
1/10k.
What would be in the history and exam of someone with Marfan’s syndrome?
Tall thin individual with low UB:LB ratio and long thin arms and legs.
MSK: Muscle hypotonia, hyperextendable lax joints, delayed motor milestones, frequent disoacitons, arachnodactyly, scoliosis, kyphosis, pectus excavatum/planus.
Poor or loss of vision (upward lens detachment) retinal detachment.
CVS: aortic root dilation, aortic dissection, AR (EDM), MR /MVP (PSM with click), arrhythmias.
Respiratory: PTX
Derm: striae atrophicae on back and arms.
What investigations would you do for Marfan’s syndrome?
Diagnosis clinical, using Ghent criteria
· Can preform genetic study by identification of FBN1, and linkage studies. FBN1 has very poor sensitivity due to the wide range of mutations.
· Investigate for cmx: echo, MSK assessment, ocular, MRI/CT
What is the management of Marfan’s syndrome?
MDT approach
· General: endocarditis prophylaxis, annual cardio f/up echo.
· B blockers delay aortic dilation, ACEis delay aortic remodeling and stiffness.
· Surgical: if aortic aneurysm, in aortic dissection, prophylactic if aortic diameter at sinus of valsava >5cm,
· Opthalmo: Refractive lens for myopia, laser treatment for retinal detachment
· Ortho: arch support for pes planus, surgery if severe scoliosis.
· Counselling genetic
What are the complications of Marfan’s Syndrome?
PTX, aortic dissection (most common mortality), aneurysm rupture
