Capricious Canvas of Childhood Onset Cerebellar Atrophy

INTRODUCTION: Cerebellar atrophy (CA) is a common finding on neuroimaging, and it can sometimes provide an explicit lead to the diagnosis. Therefore, we present a concise review of a case series involving CA.

METHODS: Retrospective analysis of cases presented to a tertiary care hospital with radiologically confirmed CA on neuroimaging. All patients with presumed acquired aetiologies of CA and posterior fossa malformations were excluded.

RESULTS: A total of 180 cases of CA with presumed genetic aetiology were included. 54%(n=97) were boys. Median age of presentation was 7 years (range: 1m-16yrs). 26%(n=46) had isolated cerebellar atrophy, 74% had associated findings like white matter abnormalities in 27%(n=37), grey matter abnormalities 33%(n=44), basal ganglia involvement in 9%(n=12), thalamic involvement in 13%(n=18), cerebellar cortex and dentate nucleus hyper intensities in 17%(n=23). Genetic testing could be done in 60%(n=108) of cases. Out of 108, 21%(n=23) had pathogenic, 40%(n=44) had likely pathogenic. 38% had VOUS variants which were further confirmed by clinical and investigations. 15%(n=14) cases didn’t have answers on WES and further workup couldn’t be performed. Neuroimaging didn’t help in the diagnosis of cases with isolated CA. NCL is the most common occurring in 14.2% followed by ataxia telangiectasia(9), INAD(8), SCA(7). Diagnosis for many cases were possible only after WES like FOXP2, TAPP1C, ADGRG1, MBOAT, ADRA2B, highlighting its importance. Distinguishing CH and CA can be tricky, as hypoplasia sometimes misidentified as atrophy in conditions like Joubert’s syndrome and PCH.

CONCLUSION: Collaboration among clinical, radiological, and genetic investigations is crucial for an accurate disease diagnosis.