Parkinsonism in Association with Dihydropteridine Reductase Deficiency

We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain...

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Autores principales: Takahashi, Yoshiaki, Manabe, Yasuhiro, Nakano, Yumiko, Yunoki, Taijun, Kono, Syoichiro, Narai, Hisashi, Furujo, Mahoko, Abe, Koji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346942/
https://www.ncbi.nlm.nih.gov/pubmed/28413401
http://dx.doi.org/10.1159/000456610
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author Takahashi, Yoshiaki
Manabe, Yasuhiro
Nakano, Yumiko
Yunoki, Taijun
Kono, Syoichiro
Narai, Hisashi
Furujo, Mahoko
Abe, Koji
author_facet Takahashi, Yoshiaki
Manabe, Yasuhiro
Nakano, Yumiko
Yunoki, Taijun
Kono, Syoichiro
Narai, Hisashi
Furujo, Mahoko
Abe, Koji
author_sort Takahashi, Yoshiaki
collection PubMed
description We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.
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spelling pubmed-53469422017-04-14 Parkinsonism in Association with Dihydropteridine Reductase Deficiency Takahashi, Yoshiaki Manabe, Yasuhiro Nakano, Yumiko Yunoki, Taijun Kono, Syoichiro Narai, Hisashi Furujo, Mahoko Abe, Koji Case Rep Neurol Case Report We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome. S. Karger AG 2017-02-14 /pmc/articles/PMC5346942/ /pubmed/28413401 http://dx.doi.org/10.1159/000456610 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Takahashi, Yoshiaki
Manabe, Yasuhiro
Nakano, Yumiko
Yunoki, Taijun
Kono, Syoichiro
Narai, Hisashi
Furujo, Mahoko
Abe, Koji
Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title_full Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title_fullStr Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title_full_unstemmed Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title_short Parkinsonism in Association with Dihydropteridine Reductase Deficiency
title_sort parkinsonism in association with dihydropteridine reductase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346942/
https://www.ncbi.nlm.nih.gov/pubmed/28413401
http://dx.doi.org/10.1159/000456610
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