Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jul 6;97(1):e109-e110.
doi: 10.1212/WNL.0000000000011719. Epub 2021 Feb 16.

Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency

Karthik Muthusamy  1 , Suzanne Boyer  1 , Marc Patterson  1 , Jorgen Bierau  1 , Saskia Wortmann  1 , Eva Morava  2
Affiliations
Case Reports

Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency

Karthik Muthusamy et al. Neurology. .
No abstract available

PubMed Disclaimer

Figures

Figure
Figure. MRI Brain at Age 4 Months
T2 (A–C) and T1-weighted (D) images depict lack of myelination in cerebellar white matter, posterior limb of internal capsule, and perirolandic regions (arrows). Diffusion-weighted imaging (E–H) shows diffusion restriction involving optic radiations (E), red nucleus and cerebral peduncle region (F), globus pallidus, and along corticospinal tract (G and H).
See this image and copyright information in PMC

References

    1. Kevelam SH, Bierau J, Salvarinova R, et al. . Recessive ITPA mutations cause an early infantile encephalopathy. Ann Neurol 2015;78:649–658. - PubMed
    1. Handley MT, Reddy K, Wills J, et al. . ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLOS Genet 2019;15:e1007605. - PMC - PubMed

Publication types

MeSH terms

Supplementary concepts