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Article type: Case Report
Authors: Yolcu, Gunay; * | Huseynli, Leyla | Kenis-Coskun, Ozge | Karadag-Saygi, Evrim
Affiliations: Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Marmara University, Istanbul, Turkey
Correspondence: [*] Corresponding author: Gunay Yolcu, MD, Marmara University Medical School, Department of Physical Medicine and Rehabilitation, Marmara University Medical School Pendik Research and Training Hospital, Department of Physical Medicine and Rehabilitation, Fevzi Çakmak Mahallesi, Tepe Sokak, No: 41, Üst Kaynarca, Pendik, Istanbul, Turkey. Tel.: +90 216 6570606, /Extension: 1611 / +90 538 6800180; Fax: +90 216 6254639; E-mail: [email protected]. ORCID ID: 0000-0002-8545-7821
Abstract: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic. Due to the absence of definitive treatment, lifelong follow-up and support of patients are important to improve the quality of life. A 7-year-old female child who was diagnosed as having SLS was referred to the rehabilitation clinic. After 20 sessions of a rehabilitation program, she started walking independently with the additional contribution of ankle-foot orthoses (AFOs). The contribution of the short-term rehabilitation approach and especially the administration of AFOs to the independence level of the patient is emphasized herein.
Keywords: Orthosis, rare disease, rehabilitation
DOI: 10.3233/PRM-201521
Journal: Journal of Pediatric Rehabilitation Medicine, vol. 15, no. 3, pp. 533-537, 2022
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