{Reference Type}: Case Reports
{Title}: Effect of Paediatric Rehabilitation in Infantile Systemic Hyalinosis: A Case Report.
{Author}: Seth NH;Sharath HV;Raghuveer R;Qureshi MI;
{Journal}: Cureus
{Volume}: 16
{Issue}: 6
{Year}: 2024 Jun
暂无{DOI}: 10.7759/cureus.61866
{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.