Paprocka Justyna, Jamroz Ewa, Scieszka Ewa, Kluczewska Ewa
Child Neurology Department, Medical University of Silesia, Katowice, Poland.
Pol J Radiol. 2012 Jan;77(1):47-9. doi: 10.12659/pjr.882587.
Rhomboencephalosynapsis (RES, RS) is a unique entity usually recognized in infancy based on neuroimaging. Cerebellar fusion and absence of cerebellar vermis is often associated with supratentorial findings. Since now there are about 50 cases described worldwide, with approximately 36 patients diagnosed by MRI. The authors present the first in Poland case of this uncommon malformation and review the literature.
The authors describe a 28-month-old-girl with microcephaly and proper psychomotor development. The family history was unrelevant. Based on MRI the congenital malformation of posterior fossa-rhombencephalosynapsis was confirmed
Presented patient is a typical example of MRI usefulness especially in patients with RES. RES symptoms are mild and that is why the diagnosis is usually made only in adulthood.
菱脑融合（RES，RS）是一种独特的疾病，通常在婴儿期通过神经影像学得以识别。小脑融合及小脑蚓部缺如常伴有幕上病变。目前全球报道约50例，其中约36例经磁共振成像（MRI）确诊。作者报告波兰首例这种罕见畸形病例并复习相关文献。
作者描述了一名28个月大的女童，有小头畸形但精神运动发育正常。家族史无异常。根据MRI确诊为后颅窝先天性畸形——菱脑融合。
该病例是MRI应用价值的典型例子，尤其对于菱脑融合患者。菱脑融合症状较轻，这就是通常仅在成年期才作出诊断的原因。
