Rising awareness through a child with recurrent fractures originated from Congenital Insensitivity to Pain and Anhidrosis in Saudi Arabia: a case report

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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Publication Details

Journal
The Ewha Medical Journal
Published
2025-10-28
DOI
https://doi.org/10.12771/emj.2025.00899
Primary Topic
Hereditary Neurological Disorders
Type
article
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article

Rising awareness through a child with recurrent fractures originated from Congenital Insensitivity to Pain and Anhidrosis in Saudi Arabia: a case report

Abdulraheem A Almokhtar, Hashem A. Bukhary, Amaal M. Aldosari, Khalid M. Alhomayani et al.
The Ewha Medical Journal
Hereditary Neurological Disorders
article

Rising awareness through a child with recurrent fractures originated from Congenital Insensitivity to Pain and Anhidrosis in Saudi Arabia: a case report

Abdulraheem A Almokhtar, Hashem A. Bukhary, Amaal M. Aldosari, Khalid M. Alhomayani, Raed M Sharaf
article en

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.

The Ewha Medical JournalVol. 48(4)
Taif University (SA), King Abdulaziz University (SA), King Saud bin Abdulaziz University for Health Sciences (SA), King Abdullah International Medical Research Center (SA), King Abdullah Medical City (SA), National Guard Health Affairs (SA)
Openalex Percentile: Top 66%
Hereditary Neurological Disorders
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