An 8-month-old girl presented with a 1-month history of developmental regression, irritability, and opisthotonic posturing. A brain MRI revealed abnormal T2 hyperintensities in the periventricular and deep cerebral white matter and peridentate cerebellar white matter. Reduced galactocerebrosidase activity in leukocytes confirmed the diagnosis of Krabbe disease.
Though typically characteristic of metachromatic leukodystrophy (MLD), the tigroid MRI pattern can also be seen in Pelizaeus-Merzbacher and Krabbe disease.1,–,3 Clinically, irritability, opisthotonos, and developmental regression, and radiographically, early cerebellar involvement, decreased thalamic T2 signal, and, if present, optic nerve enlargement, can help differentiate MLD from Krabbe disease (figure).
(A–D) Axial T2-weighted views. (A, B) Bilateral symmetric hyperintensity of the periventricular and deep cerebral white matter with a tigroid appearance. (C) Bilateral T2 thalamic hypointensities (arrowheads) and predominant parieto-occipital white matter involvement. (D) Normal, nonenlarged optic nerves. (E–H) Coronal T2-weighted views. (E) Bilateral symmetric hyperintensity of the periventricular and deep cerebral white matter with a tigroid appearance. (F) Peridentate cerebellar white matter hyperintensities (arrows). (G) Bilateral T2 thalamic hypointensities (arrowheads). (H) Normal, nonenlarged optic nerves.
Study funding
No targeted funding reported.
Disclosure
E. Corina Andriescu, Dr. Russo, and Dr. Pérez report no disclosures. Go to Neurology.org/N for full disclosures.
Appendix Authors
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides links.lww.com/WNL/B77
- © 2020 American Academy of Neurology
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg