Dyke-Davidoff-Masson Syndrome: Time to Revisit Case Series

Area of Science:

• Neuroscience
• Radiology
• Developmental Biology

Background:

• Crossed cerebellar atrophy is considered a rare finding in neuroimaging.
• Previous case reports have highlighted its unusual nature.

Purpose of the Study:

• To investigate the prevalence and characteristics of cerebellar atrophy in patients with diffuse developmental malformations of the brain (DDMS).
• To compare findings with existing literature on crossed cerebellar atrophy.

Main Methods:

• Retrospective analysis of 28 patients diagnosed with DDMS.
• Review of neuroimaging findings, focusing on parenchymal changes including cerebral and cerebellar atrophy.
• Correlation of cerebellar atrophy with cerebral hemiatrophy (CHA) and other brain malformations.

Main Results:

• Cerebellar atrophy was observed in 9 out of 28 (32%) DDMS patients, frequently co-occurring with cerebral atrophy.
• Unilateral cerebellar atrophy was contralateral to left cerebral hemiatrophy in one case.
• Other observed parenchymal changes included cerebral peduncle atrophy, thalamic atrophy, lentiform nucleus hypoplasia, schizencephaly, porencephaly, and hippocampal sclerosis.

Conclusions:

• Cerebellar atrophy, including unilateral and bilateral forms, appears to be a more frequent finding in DDMS than previously suggested.
• The observed association between cerebellar atrophy and cerebral hemiatrophy supports existing hypotheses on pathophysiology.
• Further research is warranted to fully elucidate the spectrum and implications of cerebellar involvement in DDMS.