Congenital Insensitivity to Pain and Anhidrosis: A Case Report and Review

Science Press Release Distribution Services

Congenital Insensitivity to Pain and Anhidrosis: A Case Report and Review

May 3, 2021 Medical Science 0

The first paragraph is an introduction. Hereditary sensory and autonomic neuropathy type IV, also known as congenital insensitivity to pain and anhidrosis (CIPA), is a very uncommon condition. The syndrome is described by three clinical findings: pain sensitivity, inability to sweat, and mental retardation. A genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor, causes this disease (NGF).

Methods: A visit to our centre by a young female with CIPA and a tibia fracture in pseudoarthrosis prompted us to closely study the literature and consider the therapeutic options. CIPA and other related medical issues listed in the paper were subjected to a detailed review of literature published in Pubmed.

Conclusions: CIPA’s therapeutic approach is still unknown. The best way to cure CIPA is to prevent it from happening in the first place. We suggest two important new concepts in the care of these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and enable early weight bearing, reducing the risk of further osteopenia; and (2) bisphosphonates to prevent osteopenia progression and reduce the number of consecutive fractures. When evaluating a patient with insensitivity to pain, anhidrosis, and self-mutilation, CIPA must be the first diagnostic hypothesis considered.

Author (s) Details

L. M. Pérez-López
Pediatric Orthopaedic Surgery Department, Sant Joan de Deu´ Children’s Hospital, University of Barcelona, Barcelona, Spain

M. Cabrera-González
Pediatric Orthopaedic Surgery Department, Sant Joan de Deu´ Children’s Hospital, University of Barcelona, Barcelona, Spain

D. Gutiérrez-de la Iglesia
Pediatric Orthopaedic Surgery Department, Sant Joan de Deu´ Children’s Hospital, University of Barcelona, Barcelona, Spain

S. Ricart
Pediatric Rheumatology Department, Sant Joan de Deu´ Children’s Hospital, University of Barcelona, Barcelona, Spain

View Book :- https://stm.bookpi.org/RTCMS-V10/article/view/716

 

Leave a Reply

Your email address will not be published. Required fields are marked *