Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?
Anika Menetrey, Haya S AlFaris, Liali Aljouda et al.
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Case in brief
Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period. The therapy was feasible and well tolerated, and subtle motor abnormalities normalized early. The report describes neonatal treatment following early diagnosis in infants at familial risk of this treatable disorder of monoamine neurotransmitter biosynthesis.
What made this case unusual
The cases demonstrate that diagnosis and levodopa/carbidopa treatment can occur during the neonatal period, before more typical presentation in infancy or early childhood, in preterm infants with a known family history.
Diagnostic / clinical pearl
In neonates with a family history of tyrosine hydroxylase deficiency, early genetic diagnosis can enable neonatal levodopa/carbidopa treatment; these cases found it feasible and well tolerated.