Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy

We present the first case of twins with infantile neuroaxonal dystrophy evaluating brain iron deposition using quantitative susceptibility mapping (QSM). A 6-year-old boy who was normal at birth had psychomotor regression and hypotonia from 2-years-old. Brain MRI showed low intensity areas in globus...

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Detalles Bibliográficos
Autores principales: Fujiwara, Takuya, Watanabe, Yoshiyuki, Tanaka, Hisashi, Takahashi, Hiroto, Nabatame, Shin, Yi, Wang, Tomiyama, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726173/
https://www.ncbi.nlm.nih.gov/pubmed/31501698
http://dx.doi.org/10.1259/bjrcr.20180078
Descripción
Sumario:We present the first case of twins with infantile neuroaxonal dystrophy evaluating brain iron deposition using quantitative susceptibility mapping (QSM). A 6-year-old boy who was normal at birth had psychomotor regression and hypotonia from 2-years-old. Brain MRI showed low intensity areas in globus pallidus (GP) and substantia nigra (SN) on T (2)* weighted imaging. QSM values of GP and SN were 0.19 and 0.29 ppm, respectively. His twin brother showed almost the same imaging findings. Follow-up MRI revealed increase of QSM value in GP and SN.

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