Brain magnetic resonance spectroscopy (MRS) as a diagnostic tool for detecting early neurological changes in children with Wilson's disease. 2019

Mohammad Abd Alkhalik Basha, and Rania Refaat, and Ayman F Ahmed, and Hala Y Yousef, and Ahmed Mohamed Alsowey, and Maha Ibrahim Metwally, and Sameh Abdelaziz Aly, and Hatem M Hussien, and Hosam F El-Saadany, and Asghan A AlGhobashy, and Mohamed A Talat, and Mona M Amer, and Ashraf Mahrous Eid
Department of Radio-diagnosis, Faculty of human medicine, Zagazig University, Zagazig, Egypt. Electronic address: drmohammad_basha@yahoo.com.

OBJECTIVE Although brain magnetic resonance spectroscopy (MRS) imaging findings in adult Wilson disease (WD) have been explained in extensive details, a paucity of information currently exists regarding brain MRS imaging findings in pediatric WD. The purpose of this study was to clarify the role of brain MRS in detecting early metabolite abnormalities in children with WD. METHODS A case-controlled prospective study included 26 children with WD and 26 healthy controls. All children were subjected to examination on a 1.5 T MRI scanner. The spectra of N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr), as well as the metabolite ratios of NAA/Cho, NAA/Cr, and Cho/Cr, were measured and compared between two groups. RESULTS Eight patients revealed increased signal intensity in the basal ganglia at T1-weighted images. When compared with healthy controls, WD patients showed a significant decrease (p <  0.05) in NAA (63.8 ± 9.6 vs 97.6 ± 3.8), Cho (46.7 ± 8.9 vs 87.3 ± 4.7), Cr (44 ± 10.1 vs 81.9 ± 4.05), NAA/Cho (1.92 ± 1.2 vs 3.34 ± 0.55), NAA/Cr (1.29 ± 0.7 vs 2.46 ± 0.34), and Cho/Cr (0.78 ± 0.4 vs 2 ± 0.13). Patients complicated with liver cell failure showed a significant decrease in all previous parameters (p <  0.05) than patients without complications. Patients with mixed neurological and hepatic diseases showed a severe reduction in NAA, NAA/Cr, and NAA/Cho compared with patients with hepatic disease only. CONCLUSIONS MRS in pediatric WD detects early neurological changes even with normal MRI.

UI MeSH Term Description Entries
D008297 Male Males
D009682 Magnetic Resonance Spectroscopy Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING). In Vivo NMR Spectroscopy,MR Spectroscopy,Magnetic Resonance,NMR Spectroscopy,NMR Spectroscopy, In Vivo,Nuclear Magnetic Resonance,Spectroscopy, Magnetic Resonance,Spectroscopy, NMR,Spectroscopy, Nuclear Magnetic Resonance,Magnetic Resonance Spectroscopies,Magnetic Resonance, Nuclear,NMR Spectroscopies,Resonance Spectroscopy, Magnetic,Resonance, Magnetic,Resonance, Nuclear Magnetic,Spectroscopies, NMR,Spectroscopy, MR
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002794 Choline A basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism. Bursine,Fagine,Vidine,2-Hydroxy-N,N,N-trimethylethanaminium,Choline Bitartrate,Choline Chloride,Choline Citrate,Choline Hydroxide,Choline O-Sulfate,Bitartrate, Choline,Chloride, Choline,Choline O Sulfate,Citrate, Choline,Hydroxide, Choline,O-Sulfate, Choline
D003401 Creatine An amino acid that occurs in vertebrate tissues and in urine. In muscle tissue, creatine generally occurs as phosphocreatine. Creatine is excreted as CREATININE in the urine.
D005260 Female Females
D006527 Hepatolenticular Degeneration A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. Cerebral Pseudosclerosis,Neurohepatic Degeneration,Pseudosclerosis,Wilson Disease,Copper Storage Disease,Hepatic Form of Wilson Disease,Hepato-Neurologic Wilson Disease,Hepatocerebral Degeneration,Hepatolenticular Degeneration Syndrome,Kinnier-Wilson Disease,Progressive Lenticular Degeneration,Westphal-Strumpell Syndrome,Wilson Disease, Hepatic Form,Wilson's Disease,Cerebral Pseudoscleroses,Copper Storage Diseases,Degeneration Syndrome, Hepatolenticular,Degeneration Syndromes, Hepatolenticular,Degeneration, Hepatocerebral,Degeneration, Hepatolenticular,Degeneration, Neurohepatic,Degeneration, Progressive Lenticular,Degenerations, Hepatocerebral,Degenerations, Neurohepatic,Disease, Copper Storage,Diseases, Copper Storage,Diseases, Hepato-Neurologic Wilson,Diseases, Kinnier-Wilson,Hepato Neurologic Wilson Disease,Hepato-Neurologic Wilson Diseases,Hepatocerebral Degenerations,Hepatolenticular Degeneration Syndromes,Kinnier Wilson Disease,Kinnier-Wilson Diseases,Lenticular Degeneration, Progressive,Neurohepatic Degenerations,Pseudoscleroses, Cerebral,Pseudosclerosis, Cerebral,Storage Disease, Copper,Storage Diseases, Copper,Syndrome, Hepatolenticular Degeneration,Syndromes, Hepatolenticular Degeneration,Westphal Strumpell Syndrome,Westphal-Strumpell Syndromes,Wilson Disease, Hepato-Neurologic,Wilson Diseases, Hepato-Neurologic,Wilsons Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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