Physical Therapy Evaluation In Potocki-Lupski Syndrome

A Case Report

Abstract

The Potocki-Lupski syndrome (17p11.2 p11.2 duplication), recog­nized in 2007, comprehends clinical characteristics such as congenital anomalies, intellectual deficit, infantile hypotonia and language dis­order. Objective. to describe the case of a child clinically diagnosed with Potocki-Lupski syndrome considering the physical therapeutic evaluation aspects. Method. The physical therapeutic evaluation consisted on the anamnesis investigation, physical examination and postural evaluation. The anamnesis was gathered by means of a semi-open interview form and the physical examination included respi­ratory, neurologic and musculoskeletal aspects. To characterize the child’s postural deviations the Postural Evaluation Software (Software de Avaliação Postural – SAPO) was used. Results. Male, 12 years old, white, Brazilian nationality, presented motor developmental and lan­guage acquisition delay. Besides, he presented bilateral quadriceps and triceps surae spasticity, patellar and Achilles tendon hyperreflexia, Babinski sign and clonus. The postural analysis indicated scoliosis, anteriorization of the head and thoracic hyperkyfosis. Final consid­erations. according to the scientific findings, the patient presented postural alterations, development delay and language disorder. Au­tistic spectrum and muscular hypotonia were not evidenced in the evaluation, though they are described in the clinical aspects of this syndrome. The neurological examination revealed signs of corticospi­nal tract impairment.