Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder

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.

Source: Brain and Development - December 23, 2019 Category: Neurology Authors: Hiroyuki Fujii, Noriko Sato, Jun-ichi Takanashi, Yukio Kimura, Emiko Morimoto, Yoko Shigemoto, Fumio Suzuki, Masayuki Sasaki, Hideharu Sugimoto Tags: Case Report Source Type: research