A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment

摘要: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder caused by mutation in the neurotrophic tyrosine kinase receptor (NTRK1) gene. CIPA accompanied abnormal catecholamine metabolism and decreased blood concentration of dopamine norepinephrine. Attention deficit hyperactivity (ADHD) neurodevelopmental heterogeneous etiology presentation, recent reports have suggested pathophysiological role neurotrophins ADHD. Furthermore, norepinephrine are known play major roles pathophysiology ADHD, imbalance monoaminergic cholinergic systems as an underlying cause ADHD has recently been studied. Here, we report case 11-year-old boy comorbid Our observations important clinical implications for patients CIPA. Because deficiencies self-control, proper management these necessitates highly structured monitored environment, made dually possible comorbidity