Dopa-Responsive Dystonia Due To Tyrosine Hydroxylase Deficiency And Literature Review

Objective: To analyze the clinical characteristics,gene mutation and diagnosis and treatment of the patient with tyrosine hydroxylase deficiencyMethods:A case of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency was selected for diagnosis and follow-up.Its history,clinical manifestation,laboratory examination,treatment and gene detection were analyzed.Results:Male,5 months,due to "paroxysmal limb tremor for more than one month",examination of limb muscle tension increased,bilateral knee tendon reflex hyperactivity,pathological signs(-),auxiliary examination of brain MRI showed bilateral frontotemporal extracerebral space,sulcus widening,bilateral temporal subdural effusion,thin corpus callosum,bilateral ventricles full,biochemical and plasma ceruloplasmin did not show significant abnormalities,improve gene detection.It is suggested that there are TH gene mutations in children: c.698(exon 6)G > A,TH: c.1269(exon 12)_c.1273(exon 12)delGCTGT: both parents carry this heterozygous mutation,which conforms to the pathogenesis of autosomal recessive inheritance(AR)complex heterozygous genetic diseases;the phenotype and genotype of probands and members of their families are segregated;and the heterozygous mutations are consistent.Diagnosis of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency and treatment with low-dose levodopamine tablets showed that the clinical symptoms of the children were gradually alleviated and the prognosis was good.Conclusion:A case of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency in infants was reported.It was found that the infant onset was accompanied by unknown motor impairment.Its clinical manifestations were atypical,and it was easy to be misdiagnosed as cerebral palsy.Delayed treatment and gene detection could make a definite diagnosis.The effect of low-dose levodopa was remarkable and the prognosis was good.