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Published on: February 4, 2022
Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder
Hiroyuki Fujii1, Noriko Sato2, Jun-Ichi Takanashi3
1Department of Radiology, National Center of Neurology and Psychiatry, Japan; Department of Radiology, Jichi Medical University, School of Medicine, Japan.
Insights
Mutations in the PRUNE1 gene cause a neurodevelopmental disorder. Specific brain MRI findings, including transient white matter lesions and abnormal signal intensity in the putamina and thalami, may aid in diagnosing this rare condition.
Area of Science:
- Genetics
- Neurology
- Radiology
Background:
- Autosomal recessive PRUNE1 mutations are linked to neurodevelopmental disorders.
- These disorders often present with microcephaly, hypotonia, and brain malformations.
Observation:
- A Japanese case of PRUNE1-related disorder is presented.
- The patient exhibited global developmental delay, intellectual disability, hypotonia, and spastic quadriparesis.
- Brain MRI revealed typical findings like cerebral/cerebellar atrophy and thin corpus callosum.
Findings:
- Novel MRI findings include transient cerebral subcortical white matter lesions.
- Atrophy of the midbrain and pontine tegmentum with a preserved pontine base was observed.
- Abnormal signal intensity in the bilateral putamina and medial thalami emerged after age 4.
Implications:
- Whole-exome sequencing confirmed compound heterozygous PRUNE1 mutations.
- These characteristic MRI findings may assist in the early diagnosis of PRUNE1-related disorder.
- Further research into PRUNE1 mutations and associated neuroimaging can improve diagnostic accuracy.
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.
