Coffin-Siris syndrome. Neuropathologic findings.

Area of Science:

• Neuropathology
• Developmental Neuroscience
• Genetics

Background:

• Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by intellectual disability, distinct facial features, and developmental delays.
• Previous neuropathologic studies of CSS cases reported Dandy-Walker (D-W) malformations.

Observation:

• This study details the neuropathologic findings in a patient with Coffin-Siris syndrome.
• The patient presented with hindbrain abnormalities, including malformations of the inferior and medial accessory olives, enlarged arcuate nuclei, and heterotopic olivary and cerebellar white matter nuclei.
• Notably, Dandy-Walker malformations were absent in this case.

Findings:

• The observed hindbrain abnormalities, while distinct from previously reported D-W malformations in CSS, share a common embryological origin.
• This suggests a consistent pattern of developmental disruption in specific hindbrain structures in Coffin-Siris syndrome.

Implications:

• The findings support the classification of Coffin-Siris syndrome as a neurocutaneous disorder.
• Understanding these specific hindbrain abnormalities is crucial for diagnosing and managing patients with Coffin-Siris syndrome.
• Further research into the embryological basis of these malformations may elucidate the pathogenesis of CSS.