Isolated rhomboencephalosynapsis - a rare cerebellar anomaly

Area of Science:

• Neuroimaging
• Pediatric Neurology
• Developmental Biology

Background:

• Rhomboencephalosynapsis (RES) is a rare congenital posterior fossa malformation.
• Characterized by cerebellar fusion and absence of the cerebellar vermis, often with supratentorial abnormalities.
• Fewer than 50 cases reported globally, with MRI confirming diagnosis in most.

Observation:

• A 28-month-old girl presented with microcephaly and normal psychomotor development.
• No significant family history was noted.
• Magnetic Resonance Imaging (MRI) confirmed the diagnosis of rhombencephalosynapsis.

Findings:

• The patient exhibited typical features of RES, despite mild clinical presentation.
• MRI proved crucial for diagnosing this uncommon malformation.
• The diagnosis was confirmed in early childhood, contrasting with typical adult diagnosis.

Implications:

• This case underscores the diagnostic utility of MRI in identifying RES.
• Early diagnosis, even with mild symptoms, is possible with advanced neuroimaging.
• Further research into RES pathogenesis and long-term outcomes is warranted.