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. 2022 Mar-Apr;25(2):275-278.
doi: 10.4103/aian.AIAN_486_21. Epub 2021 Oct 11.

Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder

Cheshta Arora  1 , Hansashree Padmanabha  1 , Rita Christopher  2 , Rohan Mahale  1 , Maya Bhat  3 , Gautham Arunachal  4 , Ravi Shekhar  1 , Pooja Mailankody  1 , P S Mathuranath  1
Affiliations

Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder

Cheshta Arora et al. Ann Indian Acad Neurol. 2022 Mar-Apr.
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Illustrating facial dysmorphism with hirsute forehead, broad eyebrows, depressed nasal bridge, short nose and philtrum, inverted V-shaped wide-open mouth, and minimal retrognathia (b) hyperextensibility of the wrist joint. (Consent taken)
Figure 2
Figure 2
(a) AP radiograph of the pelvis reveals bilateral acetabular dysplasia (b) Axial T1W Magnetization Prepared - RApid Gradient Echo (MPRAGE) image of the patient at 31 months shows bilateral perisylvian polymicrogyria (arrows). Axial T2WI (c) and (d) demonstrate hyperintensity (arrows) in bilateral centrum semiovale and corticospinal tracts in the midbrain, respectively. Similar signal changes are appreciated along pyramidal tracts (arrows) involving basipontis on coronal T2W (e) and medullary pyramids (f) on axial T2W images. There is also the involvement of peridentate cerebellar white matter (arrowhead) and dentate hilus with sparing of dentate nuclei (f). (Consent taken)
See this image and copyright information in PMC

References

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