Common variable immunodeficiency: two mutations are better than one.

Patients with myelomeningocele may often suffer from severe spasticity. Surgical treatment of the underlying pathology such as hydromyelia and tethered cord may be successful, but failures are not uncommon. Those cases may offer a surgical challenge since further therapeutic options are limited. We present the case of a 7-year-old boy with myelomeningocele and related conditions suffering from severe spasticity and pain in his lower limbs. Surgical efforts with untethering and posterior fossa decompression failed to improve the symptoms. A test with 25 microg intrathecally delivered baclofen showed a total relief of spasticity and pain so that a pump for continuous baclofen delivery was implanted. During 32 months of follow-up, his spasticity has been under excellent control on 55-157 microg baclofen per day. Continuous delivery of intrathecal baclofen may be a surgical option to consider in patients with myelomeningocele and severe spasticity.