AD GTP-Cyclohydrolase-1 Deficiency (Segawa Syndrome; DYT5a) - Case Report

MACHÁČEK, Martin, Patrícia MUŽLAYOVÁ, Ondřej HAVLÍN a Hana OŠLEJŠKOVÁ. AD GTP-Cyclohydrolase-1 Deficiency (Segawa Syndrome; DYT5a) - Case Report. In The 15th EPNS Congress at the Prague Conference Centre, Prague, Czech Republic on 20-24 June 2023. 2023.

Základní údaje

Originální název

AD GTP-Cyclohydrolase-1 Deficiency (Segawa Syndrome; DYT5a) - Case Report

Autoři

MACHÁČEK, Martin, Patrícia MUŽLAYOVÁ, Ondřej HAVLÍN a Hana OŠLEJŠKOVÁ

Vydání

The 15th EPNS Congress at the Prague Conference Centre, Prague, Czech Republic on 20-24 June 2023, 2023

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Další údaje

Typ výsledku

Prezentace na konferencích

Utajení

není předmětem státního či obchodního tajemství

Klíčová slova anglicky

Segawa Syndrome, Dopa Responsive Dystonia, DYT5a, L-DOPA, Tetrahydrobiopterin, GTP-Cyclohydrolase-1

Příznaky

Mezinárodní význam

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Anotace

V originále

Case study: Objective: Autosomal dominant GTP-cyclohydrolase-1 deficiency (Segawa syndrome) is a rare inherited neurometabolic disease with an estimated incidence of 1:300 000. Segawa syndrome is caused by a pathological variant of gene GCH1 leading to insufficient production of tetrahydrobiopterin, which results in a lack of dopamine in the central nervous system. The disease manifests as a motoric developmental delay, early parkinsonism, and dystonia without significant cognitive impairment. The first clinical signs typically appear before six years of age. Patients show a dramatic and sustained improvement when treated with low-dose L-DOPA/carbidopa (DOPA-responsive dystonia). This report depicts a case of a recently diagnosed Segawa syndrome in a female pediatric patient who shows promising treatment results. The authors tend to familiarize health professionals with crucial aspects of Segawa syndrome. Methods: The authors describe a case of a female pediatric patient presenting with motoric development impairment, an early manifestation of extrapyramidal symptoms, without significant mental disability. The diagnosis remained unclear after a standard neurological and pediatric clinical and paraclinical examination. The authors considered DOPA-responsive dystonia and began an L-DOPA/carbidopa test (1 mg/kg/d) and genetic testing. Result: The L-DOPA/carbidopa test improved the patient's symptoms significantly and rapidly. Genetic testing revealed an autosomal dominant pathological variant in the GCH1 gene. The patient was diagnosed with Segawa syndrome. The girl remains in the authors' medical care and shows sustained improvement. Conclusions: Segawa syndrome is a rare neurometabolic disorder with an early manifestation and usually favorable prognosis. The authors suggest considering this disease in all children with motoric development impairment, early parkinsonism, and dystonia without significant cognitive impairment.