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Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging

Leijser, L. M. ; De Vries, L. S. ; Rutherford, M. A. ; Manzur, A. Y. ; Groenendaal, F. ; De Koning, T. J. LU ; Van Der Heide-Jalving, M. and Cowan, Frances M. (2007) In American Journal of Neuroradiology 28(7). p.1223-1231
Abstract

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. 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. MATERIALS AND METHODS: Neonates with a metabolic disorder who had at least 1 cUS scan were eligible. cUS images were reviewed for anatomic and maturation features, cysts, calcium, and other abnormalities. When an MR imaging scan had been... (More)

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. 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. MATERIALS AND METHODS: Neonates with a metabolic disorder who had at least 1 cUS scan were eligible. cUS images were reviewed for anatomic and maturation features, cysts, calcium, and other abnormalities. When an MR imaging scan had been obtained, both sets of images were compared. RESULTS: Fifty-five infants (35 also had MR imaging) were studied. The most frequent findings were in oxidative phosphorylation disorders (21 cUS and 12 MR imaging): ventricular dilation (11 cUS and 6 MR imaging), germinolytic cysts (GLCs; 7 cUS and 5 MR imaging), and abnormal white matter (7 cUS and 6 MR imaging); in peroxisomal biogenesis disorders (13 cUS and 9 MR imaging): GLCs (10 cUS and 6 MR imaging), ventricular dilation (10 cUS and 5 MR imaging), abnormal cortical folding (8 cUS and 7 MR imaging), and lenticulostriate vasculopathy (8 cUS); in amino acid metabolism and urea cycle disorders (14 cUS and 11 MR imaging): abnormal cortical folding (9 cUS and 4 MR imaging), abnormal white matter (8 cUS and 8 MR imaging), and hypoplasia of the corpus callosum (7 cUS and 6 MR imaging); in organic acid disorders (4 cUS and 2 MR imaging): periventricular white matter echogenicity (2 cUS and 1 MR imaging); and in other disorders (3 cUS and 1 MR imaging): ventricular dilation (2 cUS and 1 MR imaging). cUS findings were consistent with MR imaging findings. cUS was better for visualizing GLCs and calcification. MR imaging was more sensitive for subtle tissue signal intensity changes in the white matter and abnormality in areas difficult to visualize with cUS, though abnormalities of cortical folding suggestive of polymicrogyria were seen on cUS. CONCLUSION: A wide range of abnormalities is seen using cUS in neonatal metabolic disorders. cUS is a reliable bedside tool for early detection of cysts, calcium, structural brain abnormalities, and white matter echogenicity, all suggestive of metabolic disorders.

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publishing date
type
Contribution to journal
publication status
published
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in
American Journal of Neuroradiology
volume
28
issue
7
pages
9 pages
publisher
American Society of Neuroradiology
external identifiers
  • pmid:17698520
  • scopus:34548145323
ISSN
0195-6108
DOI
10.3174/ajnr.A0553
language
English
LU publication?
no
id
3b2e23c6-9d80-4578-b71d-bcf9be0dbb6a
date added to LUP
2020-02-28 13:56:34
date last changed
2024-01-02 06:37:00
@article{3b2e23c6-9d80-4578-b71d-bcf9be0dbb6a,
  abstract     = {{<p>BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. 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. MATERIALS AND METHODS: Neonates with a metabolic disorder who had at least 1 cUS scan were eligible. cUS images were reviewed for anatomic and maturation features, cysts, calcium, and other abnormalities. When an MR imaging scan had been obtained, both sets of images were compared. RESULTS: Fifty-five infants (35 also had MR imaging) were studied. The most frequent findings were in oxidative phosphorylation disorders (21 cUS and 12 MR imaging): ventricular dilation (11 cUS and 6 MR imaging), germinolytic cysts (GLCs; 7 cUS and 5 MR imaging), and abnormal white matter (7 cUS and 6 MR imaging); in peroxisomal biogenesis disorders (13 cUS and 9 MR imaging): GLCs (10 cUS and 6 MR imaging), ventricular dilation (10 cUS and 5 MR imaging), abnormal cortical folding (8 cUS and 7 MR imaging), and lenticulostriate vasculopathy (8 cUS); in amino acid metabolism and urea cycle disorders (14 cUS and 11 MR imaging): abnormal cortical folding (9 cUS and 4 MR imaging), abnormal white matter (8 cUS and 8 MR imaging), and hypoplasia of the corpus callosum (7 cUS and 6 MR imaging); in organic acid disorders (4 cUS and 2 MR imaging): periventricular white matter echogenicity (2 cUS and 1 MR imaging); and in other disorders (3 cUS and 1 MR imaging): ventricular dilation (2 cUS and 1 MR imaging). cUS findings were consistent with MR imaging findings. cUS was better for visualizing GLCs and calcification. MR imaging was more sensitive for subtle tissue signal intensity changes in the white matter and abnormality in areas difficult to visualize with cUS, though abnormalities of cortical folding suggestive of polymicrogyria were seen on cUS. CONCLUSION: A wide range of abnormalities is seen using cUS in neonatal metabolic disorders. cUS is a reliable bedside tool for early detection of cysts, calcium, structural brain abnormalities, and white matter echogenicity, all suggestive of metabolic disorders.</p>}},
  author       = {{Leijser, L. M. and De Vries, L. S. and Rutherford, M. A. and Manzur, A. Y. and Groenendaal, F. and De Koning, T. J. and Van Der Heide-Jalving, M. and Cowan, Frances M.}},
  issn         = {{0195-6108}},
  language     = {{eng}},
  month        = {{08}},
  number       = {{7}},
  pages        = {{1223--1231}},
  publisher    = {{American Society of Neuroradiology}},
  series       = {{American Journal of Neuroradiology}},
  title        = {{Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging}},
  url          = {{http://dx.doi.org/10.3174/ajnr.A0553}},
  doi          = {{10.3174/ajnr.A0553}},
  volume       = {{28}},
  year         = {{2007}},
}