ECE2014 Poster Presentations Paediatric endocrinology (33 abstracts)
Achondroplasia is the most common genetic causes dwarfism. Its prevalence is 1/10 000 à 30 000 birth. it is an autosomal dominant disease associated with 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.
Aim: Find the frequency of neurological complications and identify scalability.
Patients and methods: Twenty patients with achondroplasia were hospitalized in our departments 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. Six patients had an age≥15 years. The neurological examination were normal in all cases. 33% had a non-active hydrocephalus and without repercussion. One patient had a narrowing of the foramen magnum by atlondo odantoidienne hypertrophy and narrowing of the foramen magnum requiring only supervision. A narrowing of the spinal canal observed in a patient aged 16 years old.
Discussion and conclusion: Achondroplasia is a disease of the constitution of the bone that reduces the number of functional fibroblast. Bone growth is done in the width direction and at the spine, the vertebrae may cause growth of a narrowing of the spinal canal with risk of compression and hydrocephalus. There are possibilities of brain and spinal neurological complications which must be systematically sought particularly in adulthood.