2024 Volume 40 Issue 2 Pages 116-120
Rubinstein-Taybi syndrome is a congenital anomaly syndrome characterized by various features such as mental and motor developmental delay, broad thumbs, and large-sized toes. Reports on patients typically focus on growth and physical examination findings, however, reports on the common characteristics of head MRI findings are limited. We herein report the case of a male infant with diverse and characteristic midline structural brain abnormalities which were identified in the early postnal period.
The patient was born at 38 weeks and 2 days gestation, with a birth weight of 1,954 g. The infant exhibited distinctive facial features, broad bilateral great toes, and the misalignment of the toes from birth. Magnetic resonance imaging of the head revealed hypoplasia of the corpus callosum, persistent falcine sinus, sinus pericranii, and pituitary hypoplasia. The presence of a persistent falcine sinus and sinus pericranii may be related to other midline structural brain abnormalities. While the diagnosis of Rubinstein-Taybi syndrome is typically based on the clinical features and findings of genetic examinations, accumulating knowledge of radiological abnormalities may also contribute to making an earlier diagnosis in the future.
