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Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.
https://repo.qst.go.jp/records/73836
https://repo.qst.go.jp/records/73836cb671d01-a838-49cd-988e-5d46896baa40
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2019-02-25 | |||||
| タイトル | ||||||
| タイトル | Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Ichikawa, Kazushi
× Ichikawa, Kazushi× Tsuji, Megumi× Tsuyusaki, Yu× Tomiyasu, Moyoko× Aida, Noriko× Goto, Tomohide× Tomiyasu, Moyoko |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, and hyperreflexia. The disease is caused by mutation in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. In this chapter, a 10-year follow-up of GABA-T deficiency in a rare case of a long-term survivor patient is discussed. The patient showed a progression of clinical phases with increasing age. In infancy, the patient developed psychomotor retardation and recurrent encephalopathic episodes associated with febrile illness. In early childhood, the patient presented with refractory involuntary and hyperkinetic movements and dystonic hypertonicity. In childhood, the patient gradually progressed into the chronic stable phase of the condition. Magnetic resonance imaging demonstrated high signal intensity on diffusion-weighted images involving the internal and external capsules and cerebral white matter in infancy which disappeared gradually by the age of 3 years, and showed subsequently diffuse brain atrophy in childhood. Using proton magnetic resonance spectroscopy, GABA levels in the basal ganglia were shown to be markedly elevated at the age of 1-2 years, and subsequently decreased with increasing age (toward 5 years). These findings suggest that the encephalopathic episodes in infancy and clinical severity of involuntary and hyperkinetic movements may be correlated with levels of GABA in the basal ganglia. The high levels of GABA in the cerebrospinal fluid remained unaltered, whereas levels of GABA in the serum decreased during childhood. Further investigation of long-term clinical surveillance may improve the understanding of GABA-T deficiency. | |||||
| 書誌情報 |
JIMD reports 巻 43, p. 7-12, 発行日 2018-02 |
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| 出版者 | ||||||
| 出版者 | Wiley | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 2192-8312 | |||||
| PubMed番号 | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 29478219 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1007/8904_2018_95 | |||||
| 関連サイト | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://link.springer.com/chapter/10.1007%2F8904_2018_95 | |||||
