Sulfite oxidase deficiency
نویسندگان
چکیده
? Multiple Choice Questions Section The Neurosciences Journal includes this section of multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read this section to improve their knowledge and direct their reading for written examinations. Choose the most appropriate single answer. A full term neonate developed progressive, intractable seizures in the first day of life. Clinically, he is encephalopathic and laying in opisthotonic posture. Antenatal and perinatal history were unremarkable. Cord blood gas was normal. MRI imaging is obtained (Figure 1).
منابع مشابه
İzole Sülfit Oksidaz Eksikliği Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency is a very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.
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متن کاملSulfite oxidase deficiency in a newborn.
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based...
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عنوان ژورنال:
دوره 21 شماره
صفحات -
تاریخ انتشار 2016