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Research ArticlePediatric Neuroimaging

Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage

M.C. Rossi-Espagnet, S. Sudhakar, E. Fontana, D. Longo, J. Davison, A.L. Petengill, E. Bevivino, F.T. Pacheco, A.J. da Rocha, P. Hanagandi, M. Soldatelli, K. Mankad and L.L.F. do Amaral
American Journal of Neuroradiology March 2021, 42 (3) 590-596; DOI: https://doi.org/10.3174/ajnr.A7016
M.C. Rossi-Espagnet
aFrom the Neuroradiology Unit (M.C.R.-E., E.F., D.L.)
cNeuroradiology Unit (M.C.R.-E.), Neuroscience, Mental Health and Sensory Organs Department, University Sapienza, Rome, Italy
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  • ORCID record for M.C. Rossi-Espagnet
S. Sudhakar
dNeuroradiology Unit (S.S., K.M.)
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  • ORCID record for S. Sudhakar
E. Fontana
aFrom the Neuroradiology Unit (M.C.R.-E., E.F., D.L.)
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D. Longo
aFrom the Neuroradiology Unit (M.C.R.-E., E.F., D.L.)
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J. Davison
ePaediatric Metabolic Medicine (J.D.), Great Ormond Street Hospital National Health Service Foundation Trust, London, UK
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A.L. Petengill
fNeuroradiology Department, (A.L.P., F.T.P., A.J.d.R., L.L.F.d.A.), Hospital da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil
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E. Bevivino
bDivision of Metabolism (E.B.), Bambino Gesù' Children's Hospital, Rome, Italy
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F.T. Pacheco
fNeuroradiology Department, (A.L.P., F.T.P., A.J.d.R., L.L.F.d.A.), Hospital da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil
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A.J. da Rocha
fNeuroradiology Department, (A.L.P., F.T.P., A.J.d.R., L.L.F.d.A.), Hospital da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil
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P. Hanagandi
gDepartment of Medical Imaging (P.H.), King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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M. Soldatelli
hNeuroradiology Department (M.S., L.L.F.d.A.), BP Medicina Diagnóstica, Hospital da Beneficência Portuguesa de São Paulo, São Paulo, Brazil
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K. Mankad
dNeuroradiology Unit (S.S., K.M.)
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L.L.F. do Amaral
fNeuroradiology Department, (A.L.P., F.T.P., A.J.d.R., L.L.F.d.A.), Hospital da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil
hNeuroradiology Department (M.S., L.L.F.d.A.), BP Medicina Diagnóstica, Hospital da Beneficência Portuguesa de São Paulo, São Paulo, Brazil
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    FIG 1.

    Acute toxicity syndrome in 3 cases of galactosemia. Upper row: MR imaging in a 13-day-old male infant (patient 3) with acute liver failure demonstrates diffuse white matter edema with the cystic appearance of the anterior temporal poles on a sagittal T2-weighted image (left column, arrow) and cytotoxic edema in the temporo-occipital cortex and thalami on the axial DWI and ADC maps (middle and right columns). Middle row: MR imaging in a 17-day-old male infant (patient 7) with profound hypotonia and sepsis showing diffuse white matter edema on T2-weighted image (left column) and diffuse cytotoxic edema on DWI and ADC maps (middle and right column). Lower row: MR imaging in a 25-day-old male infant (patient 10) with lethargy and vomiting shows diffuse white matter edema on axial and sagittal T2-weighted images (left and middle column) and an abnormal galactitol peak at 3.7 ppm on MR spectroscopy with a short TE of 35 ms (right column, arrow). Pt indicates patient.

  • FIG 2.
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    FIG 2.

    Subacute presentation. MR imaging of patient 15 at 8 months of age (A–E) demonstrates the presence of diffuse white matter edema on an axial T2-weighted image (A) associated with the double cap sign, best appreciated on T2 and axial FLAIR images (A and B, arrows). Sagittal T1-weighted image shows the presence of cystlike lesions of the temporal poles (C, arrow) and thinning of the corpus callosum (D, arrow). Single-voxel MR spectroscopy with a short TE of 35 ms demonstrates the presence of a doublet peak at 3.6–3.74 ppm, corresponding to galactitol (E, arrow). Follow-up MR imaging performed at 2 years of age (F–J) shows complete resolution of white matter edema on axial T2-weighted sequences (F); the double cap sign and temporal lobe cysts, respectively, on axial (G) and sagittal FLAIR (H), with the presence of patchy alterations in the periventricular white matter, especially in the frontal lobes (G and H, arrows); and thinning of the corpus callosum on sagittal T1-weighted image (I, arrow). MR spectroscopy demonstrates the disappearance of the previously noted galactitol peak (J).

  • FIG 3.
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    FIG 3.

    MR imaging findings in patients with galactosemia with subacute clinical presentations between 7 and 18 months of age. In all patients, axial images (left columns) show diffuse white matter edema associated with the presence of the double cap sign adjacent to the frontal horns of the lateral ventricles (arrows). On sagittal images (right columns), MR imaging demonstrates, in all patients, the presence of cystlike lesions of the temporal poles (dotted arrows) and thinning of the corpus callosum (asterisks). Pt indicates patient.

  • FIG 4.
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    FIG 4.

    Follow-up MR imaging findings in galactosemia. Patient 4: MR imaging at 13 years of age shows the persistence of the peritrigonal white matter abnormalities on axial T2-weighted image (A, arrow) associated with the presence of mild cerebellar atrophy on sagittal T2-weighted image (B, arrow). Patient 7: MR imaging at 5 years of age demonstrates encephalomalacic changes in the bilateral cortical and subcortical parieto-occipital regions on axial T2-weighted image (C, arrow), with ventricular dilation, cystic changes in the periventricular white matter (C, dotted arrow), and corpus callosum thinning on a sagittal T1-weighted image (D, arrow). Patient 8: MR imaging at 7 years of age demonstrates persistently delayed myelination on an axial FLAIR image (E) and a normal corpus callosum (F, arrow). Pt indicates patient.

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American Journal of Neuroradiology: 42 (3)
American Journal of Neuroradiology
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M.C. Rossi-Espagnet, S. Sudhakar, E. Fontana, D. Longo, J. Davison, A.L. Petengill, E. Bevivino, F.T. Pacheco, A.J. da Rocha, P. Hanagandi, M. Soldatelli, K. Mankad, L.L.F. do Amaral
Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
American Journal of Neuroradiology Mar 2021, 42 (3) 590-596; DOI: 10.3174/ajnr.A7016

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Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
M.C. Rossi-Espagnet, S. Sudhakar, E. Fontana, D. Longo, J. Davison, A.L. Petengill, E. Bevivino, F.T. Pacheco, A.J. da Rocha, P. Hanagandi, M. Soldatelli, K. Mankad, L.L.F. do Amaral
American Journal of Neuroradiology Mar 2021, 42 (3) 590-596; DOI: 10.3174/ajnr.A7016
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