Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untrea...
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| Language: | English |
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Hacettepe University Institute of Child Health
2019-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/683 |
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| author | Aydan Değerliyurt Mehmet Gündüz Serdar Ceylaner Özlem Ünal Sevim Ünal |
| author_facet | Aydan Değerliyurt Mehmet Gündüz Serdar Ceylaner Özlem Ünal Sevim Ünal |
| author_sort | Aydan Değerliyurt |
| collection | DOAJ |
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Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untreated. We report a patient with the neonatal form of biotin-thiamine-responsive basal ganglia disease who presented with encephalopathy and lactic acidosis in the neonatal period together with the diagnostic magnetic resonance imaging (MRI) clues. MRI in the neonatal period revealed bilateral involvement of the putamen, thalamus, and perirolandic cortical regions. However, MRI obtained at 32 months revealed involvement of the caudate nuclei in addition to the putamen and thalami. The neuroimaging findings of our patient and relevant literature indicate that patients with biotin-thiamine-responsive basal ganglia disease who are symptomatic in the neonatal period have putamen, thalami, and perirolandic cortical involvement. However, these patients do not have caudate involvement, unlike the patients who present in childhood.
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| format | Article |
| id | doaj-art-b377de3d35c546e6bd3971141fa9e641 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-b377de3d35c546e6bd3971141fa9e6412025-08-20T03:16:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-04-0161210.24953/turkjped.2019.02.016Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosisAydan Değerliyurt0Mehmet Gündüz1Serdar Ceylaner2Özlem Ünal3Sevim Ünal4Departments of Pediatric Neurology, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital.Pediatric Metabolism and Nutrition, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital.Intergen Genetics Centre, Ankara, Turkey.Pediatric Metabolism and Nutrition, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital.Departments of Neonatology, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital. Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untreated. We report a patient with the neonatal form of biotin-thiamine-responsive basal ganglia disease who presented with encephalopathy and lactic acidosis in the neonatal period together with the diagnostic magnetic resonance imaging (MRI) clues. MRI in the neonatal period revealed bilateral involvement of the putamen, thalamus, and perirolandic cortical regions. However, MRI obtained at 32 months revealed involvement of the caudate nuclei in addition to the putamen and thalami. The neuroimaging findings of our patient and relevant literature indicate that patients with biotin-thiamine-responsive basal ganglia disease who are symptomatic in the neonatal period have putamen, thalami, and perirolandic cortical involvement. However, these patients do not have caudate involvement, unlike the patients who present in childhood. https://turkjpediatr.org/article/view/683Leigh syndromeSLC19A3basal gangliabiotin-thiamine-responsive basal ganglia diseasethiamine transporter 2 |
| spellingShingle | Aydan Değerliyurt Mehmet Gündüz Serdar Ceylaner Özlem Ünal Sevim Ünal Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis The Turkish Journal of Pediatrics Leigh syndrome SLC19A3 basal ganglia biotin-thiamine-responsive basal ganglia disease thiamine transporter 2 |
| title | Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis |
| title_full | Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis |
| title_fullStr | Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis |
| title_full_unstemmed | Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis |
| title_short | Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis |
| title_sort | neonatal form of biotin thiamine responsive basal ganglia disease clues to diagnosis |
| topic | Leigh syndrome SLC19A3 basal ganglia biotin-thiamine-responsive basal ganglia disease thiamine transporter 2 |
| url | https://turkjpediatr.org/article/view/683 |
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