Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN) - 18/05/20

Doi : 10.1016/j.neurad.2020.04.002

Yukio Kimura ^a, Noriko Sato ^a,⁎ , Akihiko Ishiyama ^b, Yoko Shigemoto ^a, Fumio Suzuki ^a, Hiroyuki Fujii ^a, Norihide Maikusa ^c, Hiroshi Matsuda ^c, Kenya Nishioka ^d, Nobutaka Hattori ^d, Masayuki Sasaki ^b
^a Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, 187-0031 Tokyo, Japan
^b Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan
^c Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Tokyo, Japan
^d Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan

^⁎Corresponding author.

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Graphical abstract

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Highlights

•	In all four cases, hypointensities in the globus pallidus (GP) and substantia nigra (SN) were observed after the ages of 4 years on T2-weighted images and after the ages of 2 years on susceptibility-weighted images.
•	T2 hyperintensity in the bilateral deep cerebellar nuclei (DCN) was persistently observed throughout the observational period in three patients.
•	Three patients showed transient T2 hyperintensity and swelling in the GP, SN and/or DCN during the episodes of pyrexia and seizures.
•	The other findings included progression of cerebral and cerebellar atrophy, thinning of the corpus callosum, and delayed myelination.
•	Brain MRI is a useful method to establish the early diagnosis of BPAN.

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Abstract

Background and Purpose

Beta-propeller protein-associated neurodegeneration (BPAN) is one subtype of neurodegeneration with brain iron accumulation. It is difficult to diagnose BPAN due to the non-specificity of their clinical findings and neuroimaging in early childhood. We experienced four pediatric patients with serial brain MRI and evaluated the alteration of the findings through their course.

Methods

We retrospectively reviewed the clinical findings and 21 MRI findings of the four patients with genetically confirmed pediatric BPAN. We also performed a quantitative MR assessment using the quantitative susceptibility mapping (QSM) values of the globus pallidus (GP), substantia nigra (SN), and deep cerebellar nuclei (DCN) compared to 10 age-matched disease controls.

Results

Only one patient was suspected of BPAN based on imaging findings before the genetic diagnosis was made. The other three patients could not be suspected until their Whole-exome sequencings (WES) done. In all four cases, no abnormal signals were noted in the GP and SN at the initial brain MRI, but hypointensities were observed after the ages of 4–7 years on T2-weighted images and after the ages of 2–7 years on susceptibility-weighted images. In three patients, T2 hyperintensity in the bilateral DCN was persistently observed throughout the observational period. Three patients showed transient T2 hyperintensity and swelling in the GP, SN and/or DCN during the episodes of pyrexia and seizures. The other findings included cerebral and cerebellar atrophy, thinning of the corpus callosum, and delayed myelination. The QSM values of the GP and SN were significantly higher in the patients compared to the controls (P=0.005, respectively), but that of the DCN did not differ significantly (P=0.16).