Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging
L.M. Leijsera,
L.S. de Vriesc,
M.A. Rutherfordb,
A.Y. Manzura,
F. Groenendaalc,
T.J. de Koningc,
M. van der Heide-Jalvingc and
F.M. Cowana,b
a Departments of Paediatrics and Neonatal Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
b Department of Imaging Sciences, Imperial College, Hammersmith Hospital, London, United Kingdom
c Department of Paediatrics, Wilhelmina Children's Hospital/University Medical Center Utrecht, Utrecht, the Netherlands
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Fig 1. Ultrasonography images from 1 of 2 siblings with an oxidative phosphorylation disorder.
A and B, Coronal views showing (A) bilateral marked echogenicity in the lower basal ganglia typical of LSV (arrows) and (B) bilateral increased echogenicity in the white matter (arrows). No MR imaging was obtained in this child.
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Fig 2. Ultrasonography (A and B) and MR imaging (C–E) (time interval, 3 days) from an infant with a complex III disorder.
A, Coronal view showing bilateral echogenicity in the thalami (long arrows) and diffusely increased echogenicity in the subcortical and periventricular white matter (short arrows). B, Parasagittal view showing an echogenic thalamus (long arrow) and diffusely increased echogenicity in the periventricular and subcortical white matter (short arrows).
C, Axial inversion recovery MR image showing abnormal signal intensity in the thalami (long arrows), absence of normal signal intensity from the internal capsule (*), and abnormal low signal intensity in the white matter (short arrows).
D and E, Axial diffusion-weighted MR images showing widespread abnormal signal intensity in the periventricular and subcortical white matter and in the lateral basal ganglia and posterior thalami.
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Fig 3. Ultrasonography (A–C) and MR imaging (D–F) (time interval, 1 day) from an infant with a peroxisomal biogenesis disorder with a Zellweger phenotype.
A, Coronal view showing GLCs (short arrows), a large cavum septum pellucidum (long arrow), and increased echogenicity in the white matter.
B, Parasagittal view showing GLCs, cysts, in the choroid plexus (short arrow) and an abnormal appearance to the insula (long arrow).
C, Extreme parasagittal view showing abnormal development of the Sylvian fissure (arrow) and increased echogenicity in the white matter.
D and E, Axial inversion recovery and T2-weighted MR images showing a large cavum septum pellucidum, abnormal signal intensity in the frontal white matter (short arrows), and polymicrogyria of the Sylvian fissures (long arrows).
F, Axial inversion recovery image showing a lack of myelin in the posterior limb of the internal capsule (arrows).
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Fig 4. Ultrasonography (A–C) and MR imaging (D and E) (time interval, 7 days) from an infant with NKHG.
A–C, Sagittal views showing (A) a hypoplastic corpus callosum (arrow) and increased echogenicity in the white matter, (B) increased echogenicity in the white matter (arrows), and (C) exaggerated contrast between the white matter and the cortex (arrows).
D and E, Axial T1- and T2-weighted MR images showing a lack of myelin in the posterior limb of the internal capsule (arrows) and increased T1 and T2 throughout the white matter.
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Fig 5. Ultrasonography images from an infant with ornithine transcarbamylase deficiency.
A and B, Coronal views showing straight gyri off the interhemispheric fissure (short arrow), loss of gray/white matter differentiation, and loss of tissue definition in patchy echogenic white matter (long arrow). This child was too unstable to transfer for MR imaging.
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Fig 6. Ultrasonography (A–C) and MR imaging (D–F) (time interval, 35 days) from an infant with argininosuccinic acid lyase deficiency.
A, Coronal view showing a thin corpus callosum (long arrow) and widened extracerebral space and interhemispheric fissure (short arrows).
B, Sagittal view showing LSV (long arrow), increased echogenicity in the white matter most obvious at the trigone (medium arrow), and widened extracerebral space (short arrow).
C, Sagittal view showing a cyst in the choroid plexus (long arrow) and slightly increased echogenicity in the subcortical white matter (short arrows).
D, Coronal T1-weighted MR image showing a thin corpus callosum (long arrow) and low signal intensity in the peripheral white matter (short arrow).
E, Parasagittal T2-weighted MR image showing widespread abnormal signal intensity in the white matter but not the LSV seen on cUS.
F, Midsagittal T1-weighted MR image showing the small cyst (arrow) also seen on cUS.
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Fig 7. Ultrasonography (A and B) and MR imaging (C and D) (time interval, 2 days) from an infant with methylmalonic acidaemia.
A, Coronal view showing straight sulci coming off the interhemispheric fissure (short arrows), bilateral GLCs (medium arrows), LSV (dotted arrow), and slightly widened interhemispheric fissure (long arrow).
B, Posterior coronal view showing straight sulci (short arrows), slightly widened interhemispheric fissure and extracerebral space (long arrow), and increased echogenicity in the white matter of the trigone (medium arrows).
C and D, Reconstructed coronal T2-weighted MR images showing features similar to the ultrasonography images except for the LSV (only seen sonographically) and white matter change also seen subcortically on the MR images.
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Fig 8. Ultrasonography image from an infant with CDG. Sagittal view showing an apparently small cerebellum on visual assessment (arrow). No MR imaging was obtained for this child.
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