12/11/2023 0 Comments Maple syrup urine disease case study![]() ![]() Among the patients only three had a follow-up MRI study. Sagittal T2-weighted imaging (TR 2200 ms, TE 90 ms) and axial DWI (TR 10000 ms, TE 70 ms, b=0 s/mm 2 and b=1000 s/mm 2) were also included in the scan. The imaging protocol involved T1-weighted fluid-attenuated inversion recovery (T1-FLAIR repetition time (TR) 2200 ms, echo time (TE) 24 ms, section thickness 5 mm) and T2-FLAIR (TR 8500 ms, TE 120 ms, section thickness 5 mm). Eight infants were scanned while sedated sedation was induced by a 0.5 mL/kg dose of 10% chloral hydrate. The patient’s head was secured for scanning using a sponge pad and an 8-channel head coil. MRI scans were performed using a 3.0 T twinspeed superconducting MRI equipment (GE Signa). In the present study, we retrospectively analyzed clinical and magnetic resonance imaging (MRI) features of MSUD. Some have suggested that accumulation of BCAA in the brain inhibits the activity of pyruvate dehydrogenase and α-keto-glutarate dehydrogenase, disrupting the citric acid cycle and consequently the synthesis of amino acids, causing cerebral edema and abnormal myelination ( 4).ĭiffusion-weighted imaging (DWI) has uncovered alterations in the white and grey matter of newborns with MSUD ( 5– 7). The mechanisms of brain damage in patients with MSUD are still unclear. Despite attempts to manage the symptoms of MSUD, most patients suffer from severe and permanent brain damage ( 3). Symptoms are less severe and the cerebral symptoms more delayed in the intermittent and thiamine-responsive forms of MSUD ( 2). ![]() Survivors always have mental retardation, spastic paralysis, cortical blindness, and other neurologic disability. Maple syrup urine disease (MSUD) is an inherited disease characterized by an impaired metabolism of branched-chain amino acids (BCAA), which is caused by deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex ( 1).ĭeath within the first year of life is mainly caused by metabolic acidosis. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |