Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn.
نویسندگان
چکیده
FAMERP Medical School, São José do Rio Preto, SP, Brazil: MD, Department of Radiology, Doctoral candidate Health Sciences Program FAMERP Medical School; MD, Department of Radiology, Fellow in Neuroradiology and Master’s candidate Health Sciences Program of the FAMERP Medical School; MD, Department of Radiology, Fellow in Neuroradiology of the FAMERP Medical School; MD, Department of Pediatrics, Assistant Professor of Child Neurology of the FAMERP Medical School; MD, PhD, Head of the Department of Radiology, FAMERP Medical School.
منابع مشابه
A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
متن کاملSelective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran
Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...
متن کاملLong term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan.
A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95% of the newborns during this period. A ...
متن کاملMaple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report
Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonat...
متن کاملMRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.
PURPOSE We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). METHODS This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. RESULTS Six patients (60%) had the classic form of MSUD ...
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 67 3A شماره
صفحات -
تاریخ انتشار 2009