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Spinal Deformity in Patients with Coffin-Lowry Syndrome [Case Study]

Coffin-Lowry syndrome (CLS) is a rare x-linked mutation in the RSK2 gene that affects around 1/50 000 to 100 000 people and little is known about it.

In 1966, this condition was first described by Coffin and in 1971 by Lowry. The gene itself was only identified in the mid-1990s and since then over 75 mutations have been identified in around 250 CLS patients. Male patients are more severely affected and carrier females are often only mildly affected due to X inactivation.

Between 70% to 80% of the CLS cases are due to a new mutation, on the RSK2 gene, associated with a severe development disability, characteristic facies, hypotonia, premature, dental eruption, short stature, delayed bone age, hyper extensile doughty tapered fingers, pectus carinatum, pes planus and multiple spinal abnormalities.

In approximately 80% of male patients who suffer from R2K2 mutations will must certainly have a spinal deformity. These abnormalities include, but are not limited to:

  • Thoracic lordosis;
  • Scoliosis;
  • Kyphosis;
  • Degenerative disc disease;
  • Thoracolumbar kyphosis.

Literature reported that up to 47% of the patients develop some degree of kyphoscoliosis. In a review article on CLS, Hanauer proposed that the osseous changes in association with the ligamentous laxity may contribute to the progression of both abnormalities.

Padley et al described some radiographic finding associated with CLS, which included:

  • Coarctation of the foramen Magnum;
  • Narrowing the intervertebral spaces;
  • Irregular endplates;
  • Anterior wedging.

Spinal abnormalities fall along a broad spectrum which can be very harsh. Several case reports of rapidly progressive kyphosis and acute paralysis. Current literature reports life expectancy as a mean of 20,5 years. Cardiopulmonary compromise is a frequent cause of death and would be significantly affected by kyphosis.

Little is known about the natural frequency of some of their spinal manifestations. Herrera-Sot et al’s article, in 2007, discussed their experience with 10 coffin-lowry syndrome (CLS) patients with spinal abnormalities, where 7 had been diagnosed with kyphosis or kyphoscoliosis and 4 of these patients required surgical intervention. Check further details here.

The study published on Journal of Children’s orthopedics supported that up to 80% of male patients with CLS will develop a spinal deformity and it will be severe and progressive and it can get worse with pre-existing cardiac and pulmonary compromise.  

It can lead to neural axis abnormalities and in the most severely affected cases, paralysis. Morino reported an improvement in neurological function after early laminoplasty at just two weeks and long-term continued ambulation. It seems that the detection and a early treatment of these abnormalities is urgent.


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