Dr Child's Casebook: Walk Tall

A marked deterioration in his young teenage child’s gait and posture propelled a worried parent to the Trust Helpline. Marfan syndrome had been strongly suspected for some time, but not definitively diagnosed.The parent wondered which avenue to pursue and what the future holds?

Q: My child’s gait and posture have deteriorated over the last 11 months. Marfan syndrome is strongly suspected. Whilst physiotherapy has been offered, it is proving too painful for him. Should I seek an Orthopaedic appointment? What exactly is going on; could this be a musculoskeletal disorder?

A: Firstly, your child needs a definitive diagnosis by referral to your regional genetics clinic. This will take up to four months so in the meantime please also see an orthopaedic referral from your GP. A hip x-ray will reveal the source of the pain and altered gait.

Are there other symptoms indicating Marfan syndrome (MFS). There is a condition called CCA (congenital contractural arachnodactyly) which has very similar skeletal findings to MFS. It is a genetic condition characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth, usually of the elbow knees, hips, fingers and ankles. Also prevalent is curvature of the spine – kyphoscoliosis; and, importantly, protrusio acetabulae.

Protrusio acetabulae is a hip condition in which the lining of the hip joint is soft and wears out early, causing pain and a change in gait such as you describe. It is caused by a similar gene. Marfan syndrome is caused by Fibrillin-1 while CCA is caused by Fibrillin-2. The heart is not usually affected in CCA. Therefore, your son should have this gene screened as well, at the same time as the Marfan gene screen.

In adolescents or young adults, the treatment option is fairly limited. A surgical hip replacement may be necessary but an echocardiogram beforehand is essential. 

Dr Child's Casebook: Walk Tall
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