Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder |
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| Affiliation: | 1. Department of Radiology, National Center of Neurology and Psychiatry, Japan;2. Department of Radiology, Jichi Medical University, School of Medicine, Japan;3. Department of Pediatrics, Tokyo Women''s Medical University, Yachiyo Medical Center, Japan;4. Department of Child Neurology, National Center of Neurology and Psychiatry, Japan;1. Division of Cardiology, Children''s National Health System, Washington, DC;2. Department of Pediatrics, George Washington University School of Medicine, Washington, DC;1. Department of Clinical Neurosciences, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania;2. Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark;3. Department of Clinical Neurophysiology, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Aarhus, Denmark;1. Division of Neurology, Saitama Children’s Medical Center, 1-2, Shintoshin, Chuo-ku, Saitama, Japan;2. Department of Pediatrics, The Jikei University School of Medicine, 3-25-8, Nishi-Shinbashi, Minato-ku, Tokyo, Japan;3. Division of Radiological Technology, Saitama Children’s Medical Center, 1-2, Shintoshin, Chuo-ku, Saitama, Japan;4. Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, Japan;5. National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886, Urushiyama, Aoi-ku, Shizuoka, Japan;1. Department of Haematology, National Cancer Center Hospital, Tokyo 104-0045, Japan |
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| Abstract: | Autosomal recessive PRUNE1 mutations on chromosome 1q21.3 are reported to cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations. Here, we report a Japanese case with a reported PRUNE1 mutation whose brain magnetic resonance imaging (MRI) showed specific imaging findings that have not been reported before. The patient was a 12-month-old girl, the first child of healthy and nonconsanguineous Japanese parents. She showed global developmental delay, intellectual disability, hypotonia, spastic quadriparesis, and hyperreflexia. Brain MRI showed cerebral and cerebellar atrophy, thin corpus callosum, white matter changes, and abnormal signal intensity of the brainstem, all of which were reported in the literature. In addition, we emphasize the three following imaging findings: a transient cerebral subcortical white matter lesion, atrophy of the midbrain and pontine tegmentum with a preserved pontine base, and abnormal signal intensity of the bilateral swelling putamina and medial portions of the thalami, which emerged after 4 years of age. The whole-exome sequencing (WES) analysis performed at the age of 4 years identified biallelic PRUNE1 variants, namely compound heterozygous mutations (c.[316G > A];[540 T > A],p.[Asp106Asn];[Cys180*]). Although the diagnosis of PRUNE1-related disorder requires WES, we think that these new characteristic MRI findings may help in the diagnosis of PRUNE1-related disorder. |
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| Keywords: | Neurodevelopmental disorder with microcephaly Hypotonia Variable brain anomalies NMIHBA MRI |
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