Charcot-Marie-Tooth disease associated with hip dysplasia in an adolescent

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie Vol. 24; no. 7; pp. 675 - 681
• Main Authors: Langlais, T, Leonard, J-C, Ursu, C, Morin, C
• Format: Journal Article
• Language: French
• Published: France 01-07-2017
• Subjects: Adolescent; Arthralgia - etiology; Charcot-Marie-Tooth Disease - complications; Hip Dislocation - diagnostic imaging; Hip Dislocation - etiology; Hip Dislocation - therapy; Hip Joint - diagnostic imaging; Humans; Physical Examination; Walking
• ISSN: 1769-664X
• DOI: 10.1016/j.arcped.2017.04.014

Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking. Four orthopaedics abnormalities can be revealed by physical and radiological exam: acetabular dysplasia, femoral dysplasia, high femoral antetorsion and excentric head of femur. The natural evolution, in the absence of treatment, is an early secondary osteoarthritis. The therapeutic management should be as early as possible with preventive measures and joint health. During the symptomatic phase, the only treatment is a surgical correction. A systematic clinical examination of the hip all CMT children and a radiograph of the pelvis at the slightest clinical suspicion is recommended.