achondroplasia

[emamoustafa]

My son is 12 weeks old and he has achondroplasia,he was born with large head and short limbs.when he was 9 days old he had repeated attacks of central apnea and cyanosis,the condition has been repeated every 7-9 days,what shall i do i don't know?will the condition regress when he grows up or is it serious and leads to death?

[emamoustafa]

I forget to tell i mean by the attacks is a day of complete attacks each hour or half an hour.

[emamoustafa]

My child has these attacks about 12 to 13 times in 12 weeks.i don't know what to do no neurosurgeon here in Egypt(where i live) understand the condition.shall i leave his condition till it regress spontaneously or shall i do the decompressive surgery in the USA before he dies.the attacks of apnea take about 2-3 minutes each.PLEASE HELP ME I AM DESPERATE.Please reply.....

[Dr Sharma]

Hi there. Achondroplasia is a disorder of bone growth that causes dwarfism. Symptoms are short stature, frontal bossing, decreased muscle, bowed legs, shortened arms and legs. There is no specific treatment but associated spinal stenosis and spinal cord compression need to be tackled. Prognosis is guarded with children who receive the abnormal gene from both the parents. Otherwise, height is almost about 5 feet and intelligence normal. Complications like hydrocephalus and clubbed feet are seen.  The central apnea needs to be investigated in detail by a pediatric intensivist and close monitoring until your child has reduced incidence of this serious complication. Take care.

[jstncrp]

how many attack of central apnea happened to him? you get cyanosis due to the lack of supply of oxygen.. central apnea occurs due to arterial compression at the cervical level of the foramen magnum.. also brain stem compression may cause central apnea.. sudden death within the first year of life is attributed to the abnormalities of craniocervical junction causing spinal cord compression. best thing to do is consult for neuro.