A case of new dysautonomia-like disorder found in Japan. I. Clinical and metabolic studies.
A case of new dysautonomia-like disorder in a Japanese infant is reported. The patient showed almost all of the essential criteria for the diagnosis of familial dysautonomia. Results of pharmacologic tests and urinary excretion patterns of catecholamines and their metabolites were also compatible with the disorder. But he lacked some important clinical findings, such as lifelong hypolacrimia, skin blotching, excessive sweating and labile blood pressure. Precise observations of clinical features and literatures on non-Jewish cases of familial dysautonomia lent evidence that this case suffered from a new dysautonomia-like disorder.
D002648:Child; D004298:Dopamine / Q000652:urine; D004402:Dysautonomia, Familial / Q000175:diagnosis / Q000378:metabolism / Q000652:urine; D004837:Epinephrine / Q000652:urine; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008676:Metanephrine / Q000652:urine; D009638:Norepinephrine / Q000652:urine; D014642:Vanilmandelic Acid / Q000652:urine
D008676:Metanephrine; D014642:Vanilmandelic Acid; D004298:Dopamine; D009638:Norepinephrine; D006719:Homovanillic Acid; D004837:Epinephrine