Catecholamine Metabolites in Congenital Sensory Neuropathy with Anhydrosis

Congenital sensory neuropathy with anhydrosis is a rare syndrome in childhood, characterized by disturbed thermoregulation and by absence of pain and sweating.1,2 The etiology is unknown, but researchers postulate the presence of a disorder in the function of the autonomic sympathetic nervous system.3 From among the numberous etiologies considered to play a role in the pathophysiology of the syndrome, we list a few that are relevant to this report: (1) disturbance of catecholamine metabolism,3 (2) an inborn error of metabolism involving a minor pathway of tyrosine metabolism,4 and (3) low biological activity of nerve growth factor (NGF).5 Clinicians have used urinary catecholamine metabolites in the diagnosis of the syndrome.3