scholarly journals Maple syrup urine disease: magnetic resonance imaging findings in three patients

2021 ◽  
pp. 1-11
Author(s):  
Aliya Allahwala ◽  
Sibtain Ahmed ◽  
Bushra Afroze
Keyword(s):  
Magnetic Resonance Imaging ◽  
Amino Acids ◽  
Magnetic Resonance ◽  
Maple Syrup Urine Disease ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain

Abstract Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder, caused by branched-chain alpha-ketoacid dehydrogenase (BCKD) deficiency, leading to toxic accumulation of branched-chain amino acids (BCAAs) including leucine, isoleucine and valine and their corresponding ?-ketoacids. The diagnosis of MSUD is based on elevated BCAAs and allo-isoleucine in plasma, and branched-chain hydroxyacids and ketoacids in urine. The identification of alloisoleucine >5 µmol/L is considered pathognomonic. Moreover, brain magnetic resonance imaging (MRI) showing atypical signal intensity and oedema is characteristic of MSUD. Recognition of the classical neuro-radiological findings of MSUD is particularly useful in local settings as many healthcare facilities lack the resources to measure Plasma Amino Acids (PAA). We report three cases of MSUD, in whom the disorder was strongly suspected at presentation, based on classical brain MRI findings, which was urgently confirmed by PAA analysis Continuous...

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.

Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study

2021 ◽  
Author(s):  
Tomer Stern ◽  
Liora Kornreich ◽  
Hadassa Goldberg
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Focal Epilepsy ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Infantile Spasms ◽  
Mesial Temporal Sclerosis ◽  
Resonance Imaging ◽  
Brain Abnormalities ◽  
Epilepsy Diagnosis

Abstract Background We aimed to find the clinical significance of brain abnormalities on magnetic resonance imaging (MRI) in epilepsy and the lateralization of these findings with electroencephalogram (EEG). Methods We retrospectively analyzed the results of all EEGs and brain MRIs of 600 consecutive epilepsy patients from 1998 to 2020. Results Data were available for 563 cases (267 females). Ninety percent of the patients were 18 years old or younger. A total of 345 patients (61.3%) had focal epilepsy, 180 (32%), generalized, and 38 (6.7%), inconclusive. In 187 (33.2%), the first MRI was abnormal and in 81 (out of 108 repeated MRI), the second was pathological. The most frequent brain abnormalities were cortical dysplasia in 41 (18.1%), other structural abnormalities in 25 (11%), various phacomatoses in 23 (10.1%), and mesial temporal sclerosis in 17 (7.5%). Among 226 patients with abnormal MRI, 171 (75.6%) had focal epilepsy when compared with 36 (15.9%) with generalized epilepsy (p <0.001). In 121 patients (53.5%), the result of the abnormal MRI contributed significantly to the understanding of the epilepsy etiology. The side of abnormality was lateralized to the EEG focus in 120 cases (53%); in 10/15 cases with infantile spasms (66%), MRI was significantly abnormal. In 33, in whom the first MRI was normal, a second MRI revealed a significant abnormality. Conclusion Brain MRI is an important tool in epilepsy diagnosis, mainly in focal seizures and infantile spasms. A repeat MRI is mandatory in intractable focal cases to improve the yield of this test.

U mỡ trong xương bướm: một trường hợp hiếm gặp

2021 ◽  
Author(s):  
Thu Hien Trinh Thi
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Rare Case ◽  
Imaging Techniques ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Sphenoid Bone ◽  
Resonance Imaging ◽  
Large Tumor ◽  
Intraosseous Lipoma

TÓM TẮT U mỡ trong xương là khối u lành tính hiếm gặp, thường gặp ở các xương dẹt, hiếm gặp ở xương nền sọ, đặc biệt là xương bướm. Trong đa số các trường hợp, u mỡ trong xương bướm thường được phát hiện tình cờ qua chụp cắt lớp vi tinh (CLVT) hoặc cộng hưởng từ (CHT) sọ não. Đây là một khối u phát triển chậm, ít gây ra triệu chứng, một số trường hợp gây triệu chứng khi khối u to chèn ép vào cấu trúc lân cận như tuyến yên hoặc dây thần kinh thị. Trong bài này, chúng tôi báo cáo một trường hợp u mỡ trong xương bướm không triệu chứng được phát hiện tình cờ và được chẩn đoán dựa vào phim chụp cộng hưởng từ sọ não. Bệnh nhân được khuyến nghị theo dõi định kỳ bằng cộng hưởng từ mà không phải tiến hành bất kỳ phương pháp điều trị nào. Từ khóa: U mỡ, xương bướm, MRI, cộng hưởng từ sọ não, chẩn đoán hình ảnh. ABSTRACT INTRAOSSEOUS LIPOMA OF SPHENOID BONE: A RARE CASE REVIEW Intraosseous lipoma is very rare, usually benign tumor of flat bones. The incidence of an intraosseous lipomalocated basal skull bones is extremely rare, especially in sphenoid bone. Radiological imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) are used to detect the intraosseous lipoma by accident. These tumors are slow growing and usually asymptomatic, in some cases causing symptoms when the large tumor presses on nearby structures such as pituitary gland or the optic nerve. We present a rare case of lipomaof the sphenoid bone discovered incidentally with brain magnetic resonance imaging. The patient has been followed-up by magnetic resonance imaging without the need for surgery. Keywords: Intraosseous lipoma, sphenoid bone, MRI, brain MRI, diagnostic radiology

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