MRI Results (brain and complete spine) but no answers...

The most precious measurement of spine curvature, spinal defect in scoliosis can be done by analyzing the spinal x-ray picture.
MRI can be used for same purpose, too.
Scoliosis and syringomyelia are associated diseases, or in other words half of the patients with syringomyelia have scoliosis, too.
When the scoliosis is determined to be a severe degree, it can lead to restricted breathing and serious heart changes.
Hydromyelia is is an expansion of the central canal of the spinal cord with increased cerebrospinal fluid accumulation.
When these fluid dissects into the surrounding white matter of spinal cord, forming a cystic cavity or syrinx, the term syringomyelia is applied.
Fluid collection in mastoid bone could be a cerebrospinal fluid leak.
Has your son been diagnosed with Chiari malfoirmation?

He has several hammer toes, oddly flexed fingers, an abnormal gait, gross motor difficulties and a fine tremor. Diagnosed last year by a neurologist with Charcot-Marie-Tooth. Doc thought his physical presentation looked “classic” for CMT. Positive results on EMG and Nerve Conductive Velocity confirmed dx. Genetic testing to isolate CMT type was negative and doc chose to rerun EMG prior to more genetic tests. “Ramped up the charge” and EMG was negative so CMT was dropped. Original MRI and Syringomyelia and scoliosis were also dx at that time. Neurosurgeon said since no pain was present, to follow up in 1 yr w/ MRI.
Have recently noticed a significant inward roll of one foot and he is unable to square his elbows and flatten palms facing up at the same time. Palms curve to face each other. Never saw this in the past. He is on so many psych meds that it is difficult to determine what is a symptom vs a side effect.
With fluid found on both MRI’s, the presence of multiple physical abnormalities and psych issues including hallucinations, it seems to me (Dr. Mom) that there must be some link in the Big Picture.
I don’t know anything about Chiari malformations, but will look it up now. Made Appts w/ neurosurgeon to discuss MRI results and neurologist to review new symptoms, but they are 5 weeks away. I prefer to go to these doctors with somewhat educated questions. Thank you for any additional info or suggestions you can provide.
Gi

FROM: Our resident doctor, Dr. Goce Aleksovski

Charcot-Marie-Tooth is a hereditary, not an infective disorder, in which the nerves responsible for the muscles in the extremities are affected. This would lead to problems with those muscles resulting in hammer toes, gait problems (foot-drop gait problems),hand problems, muscle problems. When the disorder advances to the next stage, then the muscles that support the spine loose their strength and can no longer hold the spine properly, ultimately resulting in scoliosis. The continuous weakening of the muscles might cause severe disability. The sensory parts of the body are affected usually only with tingling sensations, but severe pain might be present in some patients, too. Other than that, intelligence or life expectancy are not affected.

This hereditary disorder is usually inherited in an autosomal dominant pattern, which might be important for young couples that already have a child with Charcot-Marie-Tooth and want another baby. Usage of certain neurotoxin drugs might additionally worsen the condition. Therefore, it is important to consult with neurologist whether the drugs might cause some damage or they are completely safe.

Every day life changes may include exercises with mild tension in order to keep the muscles that are not already atrophied. The muscles already affected by atrophy can not be helped any longer. Swimming is a great exercise for people diagnosed with Charcot-Marie-Tooth.

Before considering surgery, a person should always ask what the benefits may reasonably be considered to be and that must be weighed against the problems that might be incurred. Keep in mind that this disorder is not treatable and all the efforts must be pointed to keep the function of the muscles either by physical therapy or surgery.

In this particular case, it seems that the fluid in the left mastoid might be an infection affecting the mastoid cells that have spread from the ear. however, cerebral fluid leakage is not characteristic in this disorder. The prominent cervical canal and hydromielia are due to destruction of the myelin which gives the white color to the white part of the nervous system. When this happens, the white neural mass in the spinal cord atrophies as well and the central canal spreads and hydromyelia or syringomielia are detected.

Thank you for this information. He had an ear infection within the past 2 months. Might this have caused the fluid in the mastoid? If so, what is the next step and do we need an ENT or Neurologist to follow up?

labs taken last week show low neutrophils (28.3%) and high lymphocytes (66.1%). WBC was in range. Could these numbers be affected by an infection in the mastoid?

I am following up with doctor appointments, but I appreciate your input and direction as to the appropriate specialists and options.

thank you,
Gi

Physical therapy might be helpful to help with basic movements such as using utensils, buttoning, dressing, etc. After diagnosis by a neurologist, CMT patients are usually directed to either a podiatrist for care of their foot problems, an orthotist for the manufacture and fitting of braces, an orthopaedic surgeon for surgeries to straighten toes, lengthen heel cords or lower arches.