Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.
Objective and hypotheses: Find the frequency of neurological complications in children and adolescents with achondroplasia and specify scalability.
Method: Twenty patients with achondroplasia were hospitalized in our department between 2000 and 2013. In addition to clinical examination, paraclinical was performed with X-rays of the skeleton, brain and spinal MRI.
Results: The mean age of patients was 7±1.4 years (418). Six patients had an age ≥15 years. The neurological examination and neuroophtalmologique were normal in all cases. 33% had a non-active hydrocephalus. One patient had a narrowing of the foramen magnum by atlondo - odantoidienne hypertrophy and narrowing of the foramen magnum requiring only monitorring. A narrowing of the spinal canal observed only in a patient aged 16 years old.
Conclusion: The molecular defect is responsible for rhizomelic dwarfism. Bone growth is done in the width direction, and not of a length which causes the short bone. At the spine, the growth of vertebrae can cause a narrowing of the spinal canal with the risk of compression and hydrocephalus. Neurological complications appear at the age adults but can occur earlier. clinical and neuroradiological monitoring are required.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology