Abstract：ObjectiveTo explore the diagnostic features of 17β-Hydroxysteroid dehydrogenase 10 disease(HSD10 disease).MethodsThe clinical data of a 7-months-old infantile who was diagnosed in the First People′s Hospital of Jining was retrospectively analyzed,and relevant literatures were reviewed.ResultsThe boy was mainly presented with neurodegeneration,convulsion,and horizontal nystagmus.The cerebral magnetic resonance imaging and the ambulatory electroencephalogram were negative.The blood acylcarnitine and urinary organic acid analysis were normal.The concentrations of serum myocardial enzymes increased,including glutamic oxalocetic transaminase （79.8U/L）,creatine kinase （221U/L）,creatine kinase isoenzyme MB （43.5U/L）,lactate dehydrogenase （356U/L）,hydroxybutyric dehydrogenase （339U/L）.The neurological development was moderate mental retardation.The diagnosis was confirmed by molecular genetic study of the gene HSD17B10.The patient was hemizygous for the previously described mutation p.R130C (c.388C＞T).ConclusionsHSD10 disease mainly damages the nervous system.Affected patients show a progressive neurodegenerative disease course.Confirmation of the diagnosis is based on the identification of a disease-causing mutation in the HSD17B10 gene.
