Physical Medicine and Rehabilitation Division, Umberto I University Hospital of Rome.
Unit of Physical Medicine and Rehabilitation, G. D' Annunzio University of Chieti-Pescara, Department of Oral Medical Science and Biotechnology (DSMOB).
Clin Ter. 2021 Jan-Feb;171(1):e4-e7. doi: 10.7417/CT.2021.2273.
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.
De Barsy 综合征是一种常染色体隐性遗传病，其特征为早衰样表现，具有独特的面部特征和皮肤松弛症。通常还存在眼科、骨科和神经系统异常。这种综合征很少见，从手术和康复的角度来看，其复杂的治疗管理尚未得到认可。本文的目的是描述一名 De Barsy 综合征患儿在骨科手术后可能的康复方案。一名 6 岁男孩出生时患有双侧先天性髋关节发育不良，伴有双侧先天性足畸形（垂状足）。此外，他还表现出刻板的运动障碍和精神运动发育迟缓，伴有认知障碍和语言缺失；坐姿通过支撑躯干的矫形器来维持，无法站立。他的脚用条纹紧身裤和双尿布来治疗。19 个月大时，他接受了双侧旋前外翻足伴严重距下关节半脱位的两阶段手术治疗。通过单纯的保守治疗获得了满意的髋关节活动范围。之后，由于脚部松弛和扁平足，为他开了矫形鞋。主要康复目标是：提高注意力、视觉探索以实现足眼和手眼协调、鼓励语言的基本前提、使用支撑物控制直立姿势、改善髋关节-膝关节-足部关系、改善身体左右两侧的负荷转移以及双手协调。康复过程持续了六个月，每周三次，每次 30 分钟至 60 分钟。结果令人鼓舞，患者能够在有姿势系统的情况下坐着，能够在姿势稳定系统辅助下使用助行器直立并走几步。
