Rhombencephalosynapsis: association with single umbilical artery.

Area of Science:

• Neuroscience
• Developmental Biology
• Medical Imaging

Background:

• Rhombencephalosynapsis is a rare congenital brain malformation characterized by the absence of the cerebellar vermis and fusion of the cerebellar hemispheres.
• Developmental delay and non-progressive ataxia are common clinical manifestations associated with rhombencephalosynapsis.

Observation:

• A 6-year-old girl presented with global developmental delay and non-progressive ataxia.
• Brain MRI revealed key features of rhombencephalosynapsis, including agenesis of the cerebellar vermis and fusion of cerebellar hemispheres and dentate nuclei.
• Additional findings included partial agenesis of the corpus callosum and absence of the septum pellucidum.

Findings:

• The MRI findings were pathognomonic for rhombencephalosynapsis.
• The patient also presented with a single umbilical artery, an association not previously reported in the literature for this condition.

Implications:

• This case expands the known spectrum of anomalies associated with rhombencephalosynapsis.
• The identification of a single umbilical artery in this context may warrant further investigation into potential shared developmental pathways or genetic factors.
• This finding could inform future diagnostic approaches and genetic counseling for patients with rhombencephalosynapsis and related disorders.