A proposal of rehabilitative approach in the rare disease “De barsy syndrome”: Case report

C. Celletti, F. Camerota, T. Paolucci, L. Pezzi, D. de Meo, M. Castori, C. Villani, P. Persiani

Research output: Contribution to journalReview articlepeer-review

Abstract

De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 months old, he underwent a two stage surgical approach for a bilateral pronated valgus foot with severe talonavicular subluxation. Satisfactory hip range of motion was achieved by conservative treatment alone. Afterwards, for the foot laxity and the flat-pronated foot corrective shoes were prescribed. The main rehabilitative goals were: attention improvement, visual exploration for foot-eye and hand-eye coordination, encourage the essential prerequisites of language, controlling the upright position using support, improving hip-knee-foot relationship, improving load transfer between the right and left sides of the body, and bimanual coordination. The rehabilitation process lasted six months, three times a week, for a time from 30 minutes to 60 minutes per session. The results were encouraging and the patient acquired the possibility of sitting with the indicated postural system, the possibility of assuming an upright position and taking a few steps with the aid of rollator with a postural stabilization system for the pelvis.

Original languageEnglish
Pages (from-to)4-7
Number of pages4
JournalClinica Terapeutica
Volume172
Issue number1
DOIs
Publication statusPublished - Jan 2021

Keywords

  • Autosomal recessive syndrome
  • Cutis laxa
  • Multidisciplinary treatment
  • Rare disease

ASJC Scopus subject areas

  • Medicine(all)

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