Achondroplasia is the most common
genetic disorder associated with
bone dysplasia. The mode of inheritance is autosomal dominance, while most cases appear to represent a new mutation. Achondroplastic patients suffer from
dwarfism, and from typical features of the head and limbs (rhizomelia,
macrocephaly, frontal bossing and
kyphosis). Half of the patients show various neurological complications. The most serious complication of
achondroplasia is respiratory impairment,
apnea and
sudden infant death, resulting from compression of the medulla oblongata. This study describes the neurosurgical sequels in 10 achondroplastic patients, who underwent 12
surgical procedures. The average age was 14 years (ages ranged from 3 months to 40 years). The patients suffered from
back pain,
muscle weakness, incontinence,
hypotonia, psychomotor delay,
apnea and respiratory arrest. Four patients were diagnosed as suffering from
obstructive sleep apnea. Craniocervical MRI showed: narrowing of the foramen magnum, fusion of C1,
spinal stenosis, and severe cervicomedullary or
spinal cord compression. In 5 patients the MRI also showed ventriculomegaly of the lateral and third ventricles. Seven patients underwent foramen magnum
decompression and C1
laminectomy. Three patients with severe
spinal cord compression underwent
laminectomy of the involved spines (T12-L5). Two of the patients required more then one operation due to the recurrence of their neurological symptoms. There was no need for duraplasty or shunt procedures. The average
hospital stay was 6 days. Eight patients showed improvement or resolution of symptoms, with an average follow-up period of 13.5 months after the last operation (ranged 6-24 months). We conclude that early neurological and MRI evaluations are required in
achondroplasia patients, in order to prevent the high morbidity and mortality during infancy and childhood. In adults, MRI evaluation is needed if the patient has neurological symptoms. Early identification and immediate cervicomedulary
decompression procedure can prevent the serious complications occurring in
achondroplasia, including
respiratory failure,
apnea and
sudden death.