Boletín médico del Hospital Infantil de México
versão impressa ISSN 1665-1146
HERNANDEZ-MOTINO, Luis Carlos et al. Achondroplasia -spinal canal stenosis-a neurological complication. Bol. Med. Hosp. Infant. Mex. [online]. 2012, vol.69, n.1, pp.46-49. ISSN 1665-1146.
Background. Achondroplasia (AC) is an autosomal dominant genetic disorder of bone growth with an annual incidence of 1:26,000 births. It is caused by a mutation in the gene encoding the receptor type 3 growth of fibroblast factor (FGFR3) on chromosome 4, which is present in chondrocytes of the growth plate of bones, thus affecting endochondral ossification. It is manifested clinically by short stature with anatomic disproportion, macrocephaly, shortened limbs and skeletal deformities. Neurological complications of AC are the most common cause of morbidity and mortality. Case report. We report the case of a 5-year-old female patient with achondroplasia who was admitted with a diagnosis of influenza-like illness. Physical examination revealed clonus, hyperreflexia, limb functional limitation, and delayed psychomotor development. During her hospital stay the patient experienced respiratory arrest, necessitating the use of phase III mechanical ventilation, making extubation impossible due to weakness of chest muscles. Cranial computed tomography (CT) and cervical magnetic resonance imaging (MRI) were performed, demonstrating compression of the cervicospinal canal. Conclusions. Early identification of spinal cord compression and its immediate decompression can help to prevent serious complications, including respiratory failure and sudden death.
Palavras-chave : achondroplasia; cervicomedullary compression; spinal cord decompression.