PDF(Pubmed)
Abstract：
Infantile systemic hyalinosis (ISH) is a very rare autosomal recessive disorder, which is characterized by a systemic build-up of hyaline material that causes extensive tissue destruction and functional impairment. The signs of this debilitating illness, which can involve organs, skin anomalies, and joint contractures, frequently appear in infancy. The paucity of available research on ISH emphasizes the need for all-encompassing management approaches to address the wide range of symptoms and enhance the overall quality of life for impacted babies. The interdisciplinary approach to ISH highlights the need for physiotherapy as a crucial element, with an emphasis on addressing the motor and developmental problems linked to the illness. Improving mobility and functional independence in newborns with ISH is facilitated by therapeutic exercises designed specifically for their needs. Here, we present a case of a six-month-old male child who visited a tertiary care center with complaints of minimal movements of all four limbs since birth with the inability to hold the neck. On examination, it was found that there were low-set ears with popular rashes and contractures over distal joints. Electromyography (EMG) and nerve conduction velocity (NCV) were done, which had abnormal findings suggestive of myopathy. On skin biopsy, it was confirmed that the child was suffering from ISH. Thus, the patient was referred to a physiotherapist. After six weeks of physiotherapy sessions, it was found that early and consistent physiotherapy interventions have been linked to a decrease in joint stiffness-related pain and discomfort, improving the affected infants\' general comfort. Furthermore, physiotherapy interventions have a crucial role in supporting adaptive methods to get around physical restrictions, making it easier for infants with ISH to reach developmental milestones that could otherwise be difficult. Although there is little research on the effects of physical therapy on infants with ISH, new data indicate that a proactive, tailored physical therapy program can greatly enhance the functional ability of impacted children, improve their overall quality of life, and avert further problems. It is crucial to incorporate physiotherapy into the comprehensive care of infants diagnosed with ISH. This highlights the significance of timely diagnosis, interdisciplinary cooperation, and continuous research aimed at improving and optimizing physiotherapeutic therapies for this uncommon and crippling genetic illness.
摘要：
婴儿全身性玻璃位症（ISH）是一种非常罕见的常染色体隐性遗传疾病，其特征在于透明材料的全身性积聚，导致广泛的组织破坏和功能损害。这种使人衰弱的疾病的迹象，可能涉及器官，皮肤异常,和关节挛缩，经常出现在婴儿期。关于ISH的现有研究很少，强调需要全方位的管理方法来解决广泛的症状并提高受影响婴儿的整体生活质量。ISH的跨学科方法强调了理疗作为关键因素的必要性，重点是解决与疾病相关的运动和发育问题。通过专门为其需求设计的治疗练习，可以改善ISH新生儿的机动性和功能独立性。这里,我们介绍了一例6个月大的男性儿童，他去了三级护理中心，抱怨自出生以来四肢活动很少，无法抓住脖子。在检查中，研究发现，远端关节上有低垂的耳朵，有流行的皮疹和挛缩。肌电图（EMG）和神经传导速度（NCV），有异常发现提示肌病。皮肤活检，已确认该儿童患有ISH。因此，病人被转介给物理治疗师。经过六周的物理治疗，研究发现，早期和一致的理疗干预与关节僵硬相关的疼痛和不适的减少有关，改善受影响的婴儿的一般舒适度。此外，物理治疗干预在支持适应性方法以绕过身体限制方面具有至关重要的作用，使ISH婴儿更容易达到发育里程碑，否则可能很困难。尽管关于物理治疗对ISH婴儿的影响的研究很少，新的数据表明，积极主动的，量身定制的物理治疗方案可以大大增强受影响儿童的功能能力，提高他们的整体生活质量，避免进一步的问题。将物理治疗纳入诊断为ISH的婴儿的综合护理中至关重要。这凸显了及时诊断的意义,跨学科合作,以及持续的研究旨在改善和优化这种罕见和严重的遗传疾病的理疗疗法。
