Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia

通过沙特阿拉伯一名先天性痛觉缺失和无汗症儿童反复骨折的病例提高公众意识

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Abstract

Patients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity. Children with CIPA often sustain multiple unnoticed fractures that may be mistaken for child abuse because of the presence of fractures at different stages of healing. If unrecognized or inadequately managed, these injuries can cause permanent damage. We report the case of a 9-year-old boy who presented with recurrent fractures, chronic osteomyelitis, heterotrophic ossification, and gangrene. This case underscores the need for heightened awareness among healthcare providers regarding the clinical manifestations and management challenges of CIPA. It also emphasizes the importance of early diagnosis, meticulous follow-up, and a multidisciplinary approach to optimize outcomes and prevent severe complications in affected children.

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