Objectives: This retrospective study was undertaken to identify how children with spasticity entirely or mainly affecting lower limbs are investigated in a single institution, to address the diagnostic yield of these investigations, and to establish an improved diagnostic algorithm.
Methods: Clinical documents regarding children referred to our institution for the diagnostic investigation of spastic diplegia and receiving their first clinical appointment between the July 1, 2010, and the December 31, 2010, were identified in our electronic database. Clinical correspondence, case-notes, magnetic resonance imaging reports, and other investigation results were reviewed.
Results: For the 26 patients (16 males) identified, there was much variability in the investigations offered. In the 53.84% of them, a specific diagnosis was found, including one case of hereditary spastic paraplegia 3A and one of neuroblastoma.
Conclusions: Diagnostic rate could be optimized by a more standardized approach to investigations and by rational genetic testing. A comprehensive diagnostic algorithm is proposed for implementation of etiological diagnosis.
Georg Thieme Verlag KG Stuttgart ยท New York.