Yıl: 2019 Cilt: 61 Sayı: 2 Sayfa Aralığı: 261 - 266 Metin Dili: İngilizce DOI: 10.24953/turkjped.2019.02.016 İndeks Tarihi: 06-08-2020

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis

Öz:
Biotin-thiamine-responsive basal ganglia disease is characterized by seizures,dystonia and encephalopathy attacks, with an acute-subacute onset inchildhood. It causes cerebral damage especially with caudate head and putameninvolvement and may lead to severe sequelae and even death if left untreated.We report a patient with the neonatal form of biotin-thiamine-responsive basalganglia disease who presented with encephalopathy and lactic acidosis in theneonatal period together with the diagnostic magnetic resonance imaging(MRI) clues. MRI in the neonatal period revealed bilateral involvement of theputamen, thalamus, and perirolandic cortical regions. However, MRI obtainedat 32 months revealed involvement of the caudate nuclei in addition to theputamen and thalami. The neuroimaging findings of our patient and relevantliterature indicate that patients with biotin-thiamine-responsive basal gangliadisease who are symptomatic in the neonatal period have putamen, thalami,and perirolandic cortical involvement. However, these patients do not havecaudate involvement, unlike the patients who present in childhood.
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APA DEĞERLİYURT A, Gunduz M, CEYLANER S, ÜNAL Ö (2019). Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. , 261 - 266. 10.24953/turkjped.2019.02.016
Chicago DEĞERLİYURT AYDAN,Gunduz Mehmet,CEYLANER Serdar,ÜNAL Özlem Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. (2019): 261 - 266. 10.24953/turkjped.2019.02.016
MLA DEĞERLİYURT AYDAN,Gunduz Mehmet,CEYLANER Serdar,ÜNAL Özlem Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. , 2019, ss.261 - 266. 10.24953/turkjped.2019.02.016
AMA DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. . 2019; 261 - 266. 10.24953/turkjped.2019.02.016
Vancouver DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. . 2019; 261 - 266. 10.24953/turkjped.2019.02.016
IEEE DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö "Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis." , ss.261 - 266, 2019. 10.24953/turkjped.2019.02.016
ISNAD DEĞERLİYURT, AYDAN vd. "Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis". (2019), 261-266. https://doi.org/10.24953/turkjped.2019.02.016
APA DEĞERLİYURT A, Gunduz M, CEYLANER S, ÜNAL Ö (2019). Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turkish Journal of Pediatrics, 61(2), 261 - 266. 10.24953/turkjped.2019.02.016
Chicago DEĞERLİYURT AYDAN,Gunduz Mehmet,CEYLANER Serdar,ÜNAL Özlem Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turkish Journal of Pediatrics 61, no.2 (2019): 261 - 266. 10.24953/turkjped.2019.02.016
MLA DEĞERLİYURT AYDAN,Gunduz Mehmet,CEYLANER Serdar,ÜNAL Özlem Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turkish Journal of Pediatrics, vol.61, no.2, 2019, ss.261 - 266. 10.24953/turkjped.2019.02.016
AMA DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turkish Journal of Pediatrics. 2019; 61(2): 261 - 266. 10.24953/turkjped.2019.02.016
Vancouver DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turkish Journal of Pediatrics. 2019; 61(2): 261 - 266. 10.24953/turkjped.2019.02.016
IEEE DEĞERLİYURT A,Gunduz M,CEYLANER S,ÜNAL Ö "Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis." Turkish Journal of Pediatrics, 61, ss.261 - 266, 2019. 10.24953/turkjped.2019.02.016
ISNAD DEĞERLİYURT, AYDAN vd. "Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis". Turkish Journal of Pediatrics 61/2 (2019), 261-266. https://doi.org/10.24953/turkjped.2019.02.016