Presentation
Progressive cerebellar syndrome ongoing since childhood, with gait disorder.
Patient Data
Infratentorial abnormal findings:
- bulb/medulla oblongata hypoplasia
- pons: preserved shape and volume, although abnormal white matter signal T2 hyperintense T1hypointense with DWI hyperintensity and restricted ADC, suggesting an ongoing demyelinating process
- mesencephalus and cerebral peduncles are preserved
- superior and inferior cerebellar peduncles hypoplasia; middle cerebellar peduncles are preserved
- vermis: normal height, although narrowed in coronal and axial planes; normal foliation with primary fissure
- cerebellar hemispheres hypoplasia, normal foliation, with white matter intensities without restricted diffusion, suggesting past demyelination
- as a result, 4th ventricle and infratentorial cisterns are enlarged
The supratentorial brain is relatively well preserved: corpus callosum, pituitary stalk and gland, olfactive bulbs, basal ganglia look normal. Neuronal migration, myelination and cortex sulcation also look normal. There is mild periventricular white matter hyperintensity next to the frontal horns.
These findings suggest that
- the infratentorial brain probably developed normally beforehand considering the brain embryology, compared to true malformation disorders
- there is probably a pediatric neurodegenerative and demyelinating process going on, causing atrophy and white matter hyperintensities of the infratentorial brain.
Case Discussion
This is a case of Ravine syndrome, proven with genetic testing.
Ravine syndrome is a rare neurogenetic disorder found in the south part of Reunion Island, in the Indian ocean. Its inheritance is autosomal recessive.
The clinical symptoms feature infantile anorexia with recurrent vomiting, brainstem-linked disorders, growth retardation and progressive encephalopathy.
MRI usually shows bulb/medulla oblongata atrophy, demyelination of the cerebellar white matter, pons atrophy, supratentorial periventricular white matter hyperintensities and basal ganglia anomalies.
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