2009 Southern Regional Meeting Abstracts

Case Report: Introduction: Achondroplasia is a genetic disorder with a mutation in the FGFR3 receptor which causes abnormal cartilage formation and is the most common skeletal dysplasia. Numerous associations have been noted including spinal stenosis. Case Presentation: A 7 week old male with a history of achondroplasia confirmed by genetic testing presented with fussiness, significant hypotonia, and increasing frequency of apparent life threatening events (ALTE) episodes. He was tolerating oral feeds well. The pertinent physical findings included typical features of macrocephaly, midfacial hypoplasia, a trident sign, and rhizomelia. Additionally, he had notable hypotonia in the upper extremities, absent Moro and grasp reflexes, and an impressive head lag associated with increased fussiness with examination. An MRI of the spine was performed immediately upon hospital admission and revealed bony stenosis at the craniocervical junction with abnormal cord signal likely secondary to edema. The patient's hypotonia and irritability resolved soon after surgical decompression of the craniocervical region was performed. Discussion: Spinal stenosis occurs in approximately half of all patients with achondroplasia with lumbar stenosis being most common and usually presenting in adulthood as parasthesias and claudication. Cervical stenosis, however, is uncommon occurring in only 3-7% of patients. This case illustrates the need to suspect cervical stenosis in patients with achondroplasia who present with irritability, hypotonia or ALTEs. This clinical scenario should prompt the need for immediate neurosurgical evaluation.