Infant son born with severe hypotonia and breathing problems

[tan_yihhwei]

Hi there,
My infant son was born on 24Nov09, severely hypotonic and with breathing problems. He is currently still intubated and has failed extubation to CPAP three times. These are some tests we have performed:

- MRI scan. Normal according to doctors
- SMA genetic testing. Ruled out
- Muscle Biopsy - shows muscle fibre-type disproportion
- NCV/EMG - shows no nerve conduction

My own observations of him:
- he can move his eyes, head, neck, shoulders and certain parts of his upper arms and thighs.
- his distal limbs shows no movement.
- he is on the feeding tube.

I will like to know if there are similar cases you have come across and what will be the possible diagnosis or further tests required? As doctors in Singapore are saying they may never find a diagnosis and given that Singapore is such a small country, we may have very little such cases for references.

In addition, are there any suggestions on how we can help improve my son's breathing muscles? What are the alternative mode of ventilation we can consider?

Thank you so much.

[manuelalon]

my email is ***@****

[manuelalon]

Hello Tan

My son, born on march 2009 was diagnosed with Congenital Hypomyelinating Neuropathy. This is a condition of peripheral nerve demyelination. We got to this diagnosis at the Children's Hospital of Boston, where we went for this (we live in Colombia).
\To come up with this diagnosis doctors did the following tests to my son:

an Electromyography wich showed very slow nerve conduction. Given this result he was then done a nerve and muscle biopsy. This was the key to diagnose him, where they could see that his nerves had a very thin myelin sheath. The result of the byopsy suggested that he had CHN so then we proceeded to do the genetic testing for this condition, and they tested the MPZ Myelin Protein Zero gene and the EGR 2 gene. He turned out to have a mutation in his MPZ gene.


I have been trying myself to find families and patients with CHN to learn about their experience. My son is now 11 months old, and right now at the hospital, doctors are recommending a tracheostomy because he is requiering mechanichal ventilation.

There is a lot to say about this and I now have some experience that I could share with you. If you want, email me to ***@**** your phone number and I can call you to talk about this condition and my child's evolution so far.

Best wishes,

[tan_yihhwei]

Just to add on, doctors here are saying it could be either congenital muscle type disproportion or CONGENITAL HYPOMYELINATING NEUROPATHY, but they are not certain. If the nerve conduction shows no conduction, does it mean that it's definately the latter condition?