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Diagnostic Tools of Early Brain Disturbances in an Asymptomatic Neonate with Maple Syrup Urine Disease
| Content Provider | Scilit |
|---|---|
| Author | Terek, Demet Koroglu, Ozge Gokben, Sarenur Calli, Cem Coker, Mahmut Kultursay, Nilgun Yalaz, Mehmet |
| Copyright Year | 2013 |
| Description | Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectroscopy on the third day of life may detect elevated branched-chain amino acids in blood before the appearance of encephalopathic symptoms in MSUD cases. If undiagnosed by such a routine screening test, patients often present with encephalopathy and seizures. Clinical neurologic examination is supplemented by electroencephalography and imaging. Here, we report abnormal amplitude-integrated electroencephalography, electroencephalography, magnetic resonance imaging, and magnetic resonance imaging spectroscopy findings in a neurologically asymptomatic male newborn who was diagnosed with MSUD at the third week of life. These neurologic disturbances disappeared at the fourth month of life with appropriate special diet. Therefore, even in already asymptomatic cases, early neurologic deterioration of brain metabolism and structure can be detected with these early laboratory findings, indicating the importance of early diagnosis and management. Patients may also benefit from these investigations during the follow-up period. |
| Related Links | http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0032-1332741.pdf |
| Ending Page | 212 |
| Page Count | 5 |
| Starting Page | 208 |
| ISSN | 0174304X |
| e-ISSN | 14391899 |
| DOI | 10.1055/s-0032-1332741 |
| Journal | Neuropediatrics |
| Issue Number | 04 |
| Volume Number | 44 |
| Language | English |
| Publisher | Georg Thieme Verlag KG |
| Publisher Date | 2013-01-22 |
| Access Restriction | Open |
| Subject Keyword | Journal: Neuropediatrics Maple Syrup Urine Disease Metabolic Disorder Amplitude Integrated Electroencephalography Magnetic Resonance Spectroscopy |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology (clinical) Pediatrics, Perinatology and Child Health |
