Aydan DEĞERLİYURT, Mehmet GÜNDÜZ, Serdar CEYLANER, Özlem ÜNAL

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 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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