Wednesday, July 26, 2017

Spine abnormalities in neurofibromatosis

Neurofibromatosis is an autosomal dominant disease.There are 3 types of neurofibromatosis. Type 1 is more common among all and is characterized by tumors that develop along nervous system.

This post deals with spinal abnormalities that occur in type 1 neurofibromatosis.

Due to presence of multiple neurofibromas of spinal nerves, there is increased CSF pressure, this causes protrusion of duramater, this ballooned sac containing cerebrospinal fluid is known as dural ectasia.

This condition may result in pain in the back and limbs, bladder control problems, and numbness in severe cases.
Neurofibromatosis may cause tumors around the spinal cord. Scoliosis, an irregular side curvature of the spine from left to right, and kyphosis, or a rounded or forward angulated back, occur together or separately in about one in five people with neurofibromatosis type 1.

Children with neurofibromatosis type I develop one of two forms of scoliosis, dystrophic or non- dystrophic scoliosis. Non-dystrophic type is similar to ' typical ' scoliosis called as adult idiopathic scoliosis.

Dystrophic scoliosis, on the other hand, is a form of scoliosis that occurs due to bony changes related to neurofibromas affecting the spine. Dystrophic scoliosis is identified by looking for specific features on X-rays of the spine. For patients and their families, dystrophic scoliosis is known as a more severe form of scoliosis. It may also occur with abnormally thin ribs, weakened vertebral bones, and severe spinal curvatures including kyphosis and rotational deformities and is often associated with dural ectasia.

Treatment for scoliosis due to neurofibromatosis is challenging, particularly when dystrophic scoliosis is present. Effective treatment requires the knowledge and skill of an experienced orthopedic surgeon who specializes in scoliosis treatment.

Thanks for reading.

Madhuri Reddy

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