Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.

ABSTRACT: Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity. Type B presents before 12 months as a progressive complex encephalopathy. We report a girl with mild THD who had recurrent episodes of neurological decompensations. Before the first episode, she had normal development except for mild head tremor. Episodes occurred at 12, 19, and 25 months of age. After viral infections or vaccination, she developed lethargy, worsened tremor, language, and motor regression including severe axial hypotonia, recuperating over several weeks of intensive rehabilitation but with residual tremor and mild lower limb spa

SUBMITTER: Champagne M 

PROVIDER: S-EPMC9458604 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature