Parkinsonism in Association with Dihydropteridine Reductase Deficiency
| Autor: | Syoichiro Kono, Hisashi Narai, Yumiko Nakano, Mahoko Furujo, Yoshiaki Takahashi, Koji Abe, Taijun Yunoki, Yasuhiro Manabe |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Levodopa Case Report Fluid-attenuated inversion recovery Parkinsonism lcsh:RC346-429 White matter 03 medical and health sciences 0302 clinical medicine Hyperphenylalaninemia Internal medicine medicine lcsh:Neurology. Diseases of the nervous system Dopamine transporter Pyramidal tracts 030102 biochemistry & molecular biology biology business.industry Dihydropteridine reductase deficiency medicine.disease Dihydropteridine Reductase medicine.anatomical_structure Endocrinology SPECT Cardiology biology.protein Neurology (clinical) business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Case Reports in Neurology, Vol 9, Iss 1, Pp 17-21 (2017) Case Reports in Neurology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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