Rhombencephalosynapsis: A Rare Cerebellar Malformation
نویسنده
چکیده
Background: Rhombencephalosynapsis is characterized by agenesis/hypogenesis of the cerebellar vermis along with the fusion of the cerebellar hemispheres in the midline. There are less than 50 cases in the literature, and adult cases are extremely rare. In this paper, an adult patient with rhombencephalosynapsis is reported. Case: A 24-year-old female was admitted with the complaint of headache. Neurological examination was completely normal, and past medical history was eventless. Magnetic resonance imaging revealed agenesis of the vermis along with the fusion of the cerebellar hemispheres. Conclusion: Although a rare malformation, rhombencephalosynapsis should be considered in the differential diagnosis of the cerebellar malformations.
منابع مشابه
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and someti...
متن کاملPartial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation?
MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar vermis, fusion of the inferior posterior cerebellum, and probable polymicrogyria in the superior cerebellar hemispheres in a child with hypotonia, nystagmus, ataxia, and psychomotor retardation. We propose that this newly discovered cerebellar malformation be added to the list o...
متن کاملRhombencephalosynapsis – isolated anomaly or complex malformation?
BACKGROUND Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI). MATERIAL/METHODS Material c...
متن کاملGomez-Lopez-Hernandez syndrome
Gomez-Lopez-Hernandez syndrome is a rare form of cerebellotrigeminal dermal dysplasia, first documented by Gómez and reported by López-Hernández. It comprises mainly neurological, dysmorphic and cutaneous symptoms. The genetic basis of this sporadic disorder GLH is not yet clear. De novo chromosomal arrangements or spontaneous dominant mutations may represent possible explanations. Identificati...
متن کاملRhombencephalosynapsis: cerebellar embryogenesis.
We describe two infants in whom rhombencephalosynapsis was diagnosed with MR imaging in vivo. In contrast to Dandy-Walker malformation, the vermian maldevelopment in this anomaly is characterized by an absence of the anterior vermis and a deficiency of the posterior vermis. The cerebellar hemispheres are fused. In an attempt to identify the pathogenesis of these anatomic manifestations, we ques...
متن کامل