Glutaric aciduria type I: ultrasonographic demonstration of early signs

Abstract

In patients with macrocephaly at birth or rapidly developing within the first weeks of life, US should be performed as the primary imaging modality. Cyst-like bilateral widening of the sylvian fissures is the first sign of GA-I, followed by progressive fronto-temporal and ventricular enlargement. These patients should be screened for GA-I in order to initiate treatment in the asymptomatic stage.

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

“…50,51 That MR imaging showed some additional findings is also partially because of the time interval between cUS and MR imaging scans reflecting the natural evolution of cerebral lesions in metabolic disorders. 20,43 cUS showed calcification not identified on MR imaging, a useful clue to metabolic diagnoses. GLCs were almost always better seen on cUS, probably caused by partial volume effects from slice thickness.…”

“…[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.…”

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

“…The histogenesis of PRC is still unclear. Five major hypotheses have been advocated: heterotopic ovarian tissue 2 , monodermal variant of teratomas 3 , embryonic urogenital remnants 4 , intestinal duplications 5 and celomic metaplasia 6 . In our case, histological and immunohistochemical analyses concluded that the PRC developed from an extraovarian Müllerian issue.…”

“…Macrocephaly is the pivotal clinical sign in GA 1 patients in the postnatal period, as it is the earliest and the most consistent sign according to the largest series published 6,7 . Development of macrocephaly usually occurs early in the neonatal period, typically within the first weeks after delivery, but has also been described at birth and even in the prenatal period 5,6 . Radiological findings in GA 1 have been well documented in the neonatal period and in early childhood.…”