Abstract
Objective: To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia.
Design : Case reports, literature review, and video presentation.
Setting: University of Lübeck, Lübeck, Germany.
Patients: Two boys from a consanguineous family.
Main Outcome Measures: Physical and mental development as a function of replacement initiation.
Results: The older sibling presented with typical features of AR GTPCH deficiency due to a homozygous mutation in the GCH1 gene with proven pathogenicity. Levodopa treatment was initiated at age 10 months and resulted in a distinct motor improvement. However, mental development was delayed. In the younger sibling, prenatal replacement therapy was initiated after a prenatal diagnosis of AR GTPCH deficiency was made. At age 17 months, both motor and mental development were normal for his age.
Conclusions: This report highlights the importance of an early diagnosis, including prenatal diagnosis, of complex dopa-responsive extrapyramidal syndromes. Prenatally initiated dopaminergic replacement therapy is beneficial and thus justified in AR GTPCH deficiency, allowing prevention of significant impairment of mental abilities.
Original language | English |
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Journal | Archives of Neurology |
Volume | 69 |
Issue number | 8 |
Pages (from-to) | 1071-1075 |
Number of pages | 5 |
ISSN | 0003-9942 |
DOIs | |
Publication status | Published - 01.08.2012 |