Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare syndrome characterized by a lack of sensitivity to pain due to congenital sensory and autonomic neuropathies, anhidrosis, an inability to regulate body temperature, growth retardation, mental retardation at different levels of severity, and inadvertent self-harm. It is an autosomal recessive disorder that is result of a mutation in the neurotrophic receptor tyrosine kinase 1 gene, which encodes neurotrophic tyrosine kinase. CIPA patients are frequently admitted to hospitals with unrecognized traumatic fractures and unhealed wounds due to the lack of a pain response. Presently described is the method of anesthetic management used for 2 siblings, aged 17 and 14 years, with a generalized lack of pain, anhidrosis, mental retardation, and septic arthritis. Sedation with midazolam alone provided satisfactory surgical comfort without causing hemodynamic instability in these 2 patients with CIPA syndrome.
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PMID:Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. 3174 48


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