Metabolic Disorders

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

“…26 None of our subjects showed involvement of the cerebral cortex, which, instead, is a feature of the encephalopathy found in congenital CMV infection. 26 Metabolic causes should also be considered in the differential diagnosis of AGS, in particular biotinidase deficiency 27,28 and carbonic anhydrase II deficiency. 27 In view of the relative sparing of the brain stem and cerebellum in AGS, the differential diagnosis of the syndrome versus diseases such as pontocerebellar hypoplasia 23 does not seem to present a particular problem.…”

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

“…Several studies have been performed on brain MR imaging and histologic findings in metabolic disorders presenting during the neonatal period, 3,4,21,24,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49] but cUS findings have only been described in individual case reports. [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.…”

“…An advantage of MR imaging is that diffusion-weighted images and MR spectroscopy can be performed, both of diagnostic value in metabolic disorders, including MSUD, NKHG, and RCDP. 3,4,22,24,42,45,[47][48][49] Additionally, neuronal migration disorders and more diffuse, peripheral white matter changes are more easily identified, and myelination can be evaluated.…”

“…MR imaging is generally considered the optimal technique. 3,4 However, there is a substantial overlap and a lack of specificity in the pattern of imaging findings in neonatal metabolic disorders, 3,4 and MR imaging may not be readily available on admission to a neonatal unit, and infants are often too unstable to be sedated and transported at this time. Cranial ultrasonography (cUS) can be performed bedside, is safe, and can be easily repeated.…”

Cerebral Metabolism in Severe Neonatal Hyperbilirubinemia

“…Normal 1 H-MRS, including a small amount of lactate, has been described recently in a term neonate with severe hyperbilirubinemia and a normal follow-up examination at 12 months. 14 The low NAA/ Cho ratio in neonate E indicates neuronal loss corresponding with abnormal MRI findings and cerebral palsy, because NAA is considered a neuronal marker. 8 Disappearance of NAA within 24 to 48 hours after cerebral ischemia in adults has been reported.…”