Toe Walking: A Neurological Perspective after Referral from Pediatric Orthopaedic Surgeons

Background: Toe walking (TW) in children is often idiopathic in origin. Our purpose was to determine the incidence of a neurological etiology for TW in patients seen in the neurology clinic after referral from pediatric orthopaedic surgeons. Methods: We performed an Institutional Review Board approved retrospective review of 174 patients referred to the neurology clinic from orthopaedic surgeons at an academic pediatric tertiary care center between January 2010 and September 2015. Medical records were reviewed and data recorded including pertinent family history, birth history, age of initial ambulation, physical examination findings, and workup results including neuroimaging, neurophysiological studies, and findings of genetic testing and tissue biopsy. Results: Sixty-two percent (108/174) of patients were found to have a neurological etiology for TW. Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/108) autism spectrum disorder, 13.9% (15/108) hereditary spastic paraparesis, 8.3% (9/108) attention deficit hyperactivity disorder, 5.6% (6/108) syndromic diagnosis, and 2.8% (3/108) spinal cord abnormality. Ankle equinus contractures were noted in idiopathic and neurological patients and did not indicate a pathologic origin. Seventy-one percent of unilateral toe walkers and 32% of bilateral but asymmetric toe walkers were diagnosed with CP (P<0.001). Twenty-six percent of 145 brain magnetic resonance imaging studies diagnosed CP. Of the 125 (72%) with spinal imaging, 3 had spinal pathology to account for TW. Fourteen percent of 87 subjects with an electromyography/nerve conduction study had abnormal results indicating a peripheral polyneuropathy. Conclusions: An underlying pathologic diagnosis was found in 62% of patients referred to neurology for TW. A concerning birth history, delayed initial ambulation, unilateral TW, upper or lower motor neuron signs on examination, or behavioral features may suggest a pathologic diagnosis. Ankle contracture is not predictive of an abnormal diagnosis and can be found in idiopathic patients. CP, peripheral neuropathy, autism spectrum disorder, and hereditary spastic paraparesis are the most common pathologic diagnoses identified in our population. Level of Evidence: Level III - retrospective cohort.