Ultrasonography and magnetic resonance imaging in Leigh disease

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

“…Our cUS findings in the infants with COX deficiency and complex disorders are consistent with those in the literature. 10,13,14,17,26 Most infants with peroxisomal biogenesis disorders had multiple GLCs and ventricular dilation, often with abnormal peri-Sylvian cortical folding and LSV. These findings were apparent on cUS and consistent with case reports, 15,19,24 contributing to an early diagnosis.…”

“…[10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] cUS has the advantage that it is readily available on neonatal units when infants are admitted. We have shown in a large cohort of neonates with diagnosed metabolic disorders that cUS detects many abnormalities that support a clinical diagnosis, detects structural abnormalities that lead to further investigations, or depicts ongoing injurious or metabolic processes.…”

“…[5][6][7] Metabolic disorders can be difficult to diagnose, and recognition of characteristic neuroimaging features is very helpful in the diagnostic process. 8,9 Structural brain abnormalities and more acute changes detected on cUS scan in metabolic disorders have been described in individual case reports, [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] but there is no large study systematically reviewing these imaging findings and their accuracy or comparing them with MR imaging. The aim of this study, therefore, was primarily to investigate the role and range of abnormalities seen on cUS examination in a wide range of metabolic disorders that present during the neonatal period; a secondary aim, when possible, was to address the question of whether brain MR imaging is more informative by comparing cUS to MR imaging findings.…”

Cranial Ultrasonography in Infantile Encephalitic Beriberi: A Useful First-Line Imaging Tool for Screening and Diagnosis in Suspected Cases

“…[14][15][16][17][18] The differential diagnosis of hyperechoic deep gray matter structures on cUS includes severe hypoxic-ischemic injury, inborn errors of metabolism, and encephalitis/congenital infection. 5,10,[19][20][21][22] Clinical features, serologic/biochemical investigations, and CSF analysis can help in making the proper diagnosis.…”