scholarly journals Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy

2013 ◽  
Vol 33 (3) ◽  
pp. 230-233
Author(s):  
Diva Shah ◽  
Apoorv Nirula ◽  
Dwiti Shah
Keyword(s):  
Maple Syrup Urine Disease ◽  
Diffusion Weighted Mri ◽  
Mri Findings ◽  
Metabolic Encephalopathy ◽  
Maple Syrup ◽  
Diffusion Weighted ◽  
Urine Disease ◽  
Classic Form ◽  
Branched Chain

The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8365   J. Nepal Paediatr. Soc. 2013;33(3):230-233

Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis

2012 ◽  
Vol 30 (6) ◽  
pp. 522-525 ◽  
Author(s):  
Rukiye Kilicarslan ◽  
Alpay Alkan ◽  
Demet Demirkol ◽  
Huseyin Toprak ◽  
Rasul Sharifov
Keyword(s):  
Maple Syrup Urine Disease ◽  
Diffusion Weighted Mri ◽  
Mri Findings ◽  
Maple Syrup ◽  
Diffusion Weighted ◽  
Urine Disease ◽  
Disease Diffusion

Diffusion-weighted MRI of maple syrup urine disease encephalopathy

2002 ◽  
Vol 44 (6) ◽  
pp. 499-502 ◽  
Author(s):  
F. Cavalleri ◽  
A. Berardi ◽  
A. Burlina ◽  
F. Ferrari ◽  
L. Mavilla
Keyword(s):  
Maple Syrup Urine Disease ◽  
Diffusion Weighted Mri ◽  
Maple Syrup ◽  
Diffusion Weighted ◽  
Urine Disease

Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI

2004 ◽  
Vol 34 (2) ◽  
pp. 163-166 ◽  
Author(s):  
Jong Su Ha ◽  
Sang Hoon Cha ◽  
Hee Sun Lee ◽  
Ki Yeol Lee ◽  
Hae Young Seol ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Acute Stage ◽  
Diffusion Weighted Mri ◽  
Maple Syrup ◽  
Follow Up Study ◽  
Diffusion Weighted ◽  
Urine Disease

scholarly journals Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report

2020 ◽  
Vol 7 (10) ◽  
pp. 2072
Author(s):  
Rohini Patil ◽  
Giridhar S. ◽  
Umadevi L. ◽  
Rathinasamy M. ◽  
Antony J
Keyword(s):  
Mass Spectrometry ◽  
Maple Syrup Urine Disease ◽  
Dried Blood Spots ◽  
Gas Chromatography Mass Spectrometry ◽  
Metabolic Encephalopathy ◽  
Maple Syrup ◽  
Neurological Outcomes ◽  
Urine Disease ◽  
Branched Chain ◽  
Specialized Diet

We report a 17 day old boy, who developed progressive encephalopathy, after an apparent period of normalcy. Magnetic resonance imaging showed diffusion restriction in myelinated areas like, a pattern suggestive of maple syrup urine disease. Dried blood spots for tandem mass spectrometry and urine for gas chromatography mass spectrometry confirmed elevation and excretion of branched chain amino acids respectively.  After peritoneal dialysis, baby improved but continued to have residual neurological deficit, in spite of MSUD-specialized diet. Molecular studies confirmed the diagnosis. This report highlights the need for early identification of these infants to optimize neurological outcomes.

scholarly journals 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

2009 ◽  
Vol 67 (3a) ◽  
pp. 719-723 ◽  
Author(s):  
José Roberto Lopes Ferraz-Filho ◽  
Valdeci Hélio Floriano ◽  
Marcelo Bianco Quirici ◽  
Regina Pires de Albuquerque ◽  
Antônio Soares Souza
Keyword(s):  
Maple Syrup Urine Disease ◽  
Full Term ◽  
Diffusion Weighted Mri ◽  
Maple Syrup ◽  
Term Newborn ◽  
Diffusion Weighted ◽  
Urine Disease

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Hong‐Hua Jiang ◽  
Yan Guo ◽  
Xian Shen ◽  
Ying Wang ◽  
Ting-Ting Dai ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Literature ◽  
Brain Mri ◽  
Classical Type ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Gene Testing ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Branched Chain

Abstract Objectives To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. Methods Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed. Results Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2 ± 75.0 μmol/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and l-carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments. Conclusions The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.

Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Jianmei Yang ◽  
Jianjun Xiu ◽  
Yan Sun ◽  
Fan Liu ◽  
Xiaohong Shang ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Structural Changes ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Novel Mutations ◽  
Metabolic Encephalopathy ◽  
Maple Syrup ◽  
Feeding Difficulties ◽  
Urine Disease ◽  
The Impact

Abstract Background Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched-chain α-ketoacid dehydrogenase complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. This study presents the clinical and molecular characterizations of four MSUD patients. Methods Clinical data of patients were retrospectively analyzed, and genetic mutations were identified by whole-exome sequencing. CLUSTALX was employed to analyzed cross-species conservation of the mutant amino acid. The impact of the mutations was analyzed with PolyPhen-2 software. The I-TASSER website and PyMOL software were used to predict the protein three-position structure of the novel mutations carried by the patients. Results Vomiting, irritability, feeding difficulties, seizures, dyspnoea, lethargy and coma were the main clinical presentations of MSUD. Cranial MRI showed abnormal symmetrical signals in accordance with the presentation of inherited metabolic encephalopathy. Seven mutations were detected in four patients, including three novel pathogenic mutations in the BCKDHA (c.656C>A), BCKDHB (deletion of a single-copy of BCKDHB) and DBT (c.1219dup) genes. Structural changes were compatible with the observed phenotypes. Conclusions Different types of MSUD can display heterogeneous clinical manifestations. Exhaustive molecular studies are necessary for a proper differential diagnosis. The newly identified mutation will play a key role in the prenatal diagnosis of MSUD in the future.

Sign in / Sign up

Export Citation Format

Share Document