ICNC Abstracts, ICNC 2018

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Two Different Phenotypes of Tyrosine Hydroxylase Deficiency Syndrome
Punita Chandra Segaran, Tajudin Tajul Ariffin

Last modified: 2018-09-09


Introduction: Tyrosine hydroxylase deficiency is a neurological disorder with broad phenotypic spectrum. The clinical presentation may range from a dopamine responsive dystonia phenotype, infantile Parkinsonism to infantile hypotonia encephalopathy syndrome which may mimic a neuromuscular disorder. Despite being rare, it’s an inborn error of catecholamine synthesis which is amenable to treatment. Cases: We report two cases of tyrosine hydroxylase deficiency, confirmed genetically and biochemically, with two contrasting clinical presentation. The first case, an ex premature at 32 weeks, presented to us at the age of 2 months with severe hypotonia and delayed development. Clinical examination revealed a rag doll hypotonic infant with absent reflexes and normocephaly; which gave us a first impression of neuromuscular disorder. The child demonstrated repeated funny turns which consisted of stereotypic right hand dystonic posturing and yawning like oro buccal habitus. The second case is a Chinese boy who presented to us with developmental delay, seizures and tremor. Clinically hypotonia with variable reflexes, tremor, mild rigidity and he would have repeated episodes of freezing and falling upon walking. Biochemical cerebrospinal analysis for both revealed very much reduced homovanelic acid (HVA) level and almost unmeasurable level of dopamine with normal level of pterins and HIAA. Diagnosis was confirmed with presence of genetic mutation. Both the children showed improvement with levodopa and later complicated by hyperkinetic movement. Conclusion: Tyrosine hydroxylase deficiency is a rare disorder with many faces and but amenable to treatment although some more respond lesser that others.





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