Neuropathologic Findings in Mowat-Wilson Syndrome at Autopsy, Including a Suprasellar Spindle Cell Lipoma

Area of Science:

• Genetics
• Pathology
• Pediatrics

Background:

• Mowat-Wilson Syndrome is an autosomal dominant disorder linked to ZEB2 mutations.
• It presents with developmental delay, Hirschsprung's disease, seizures, and multiple malformations.
• Autopsy findings and suprasellar spindle cell lipomas in Mowat-Wilson Syndrome are rarely reported.

Purpose of the Study:

• To report the gross, histopathologic, and molecular findings of a rare suprasellar spindle cell lipoma in a patient with Mowat-Wilson Syndrome.
• To investigate the etiology of suprasellar spindle cell lipomas, differentiating between neoplasms and congenital malformations.

Main Methods:

• Autopsy examination including gross and histopathologic analysis.
• Immunohistochemistry to assess protein expression, specifically RB1.
• Molecular findings related to Mowat-Wilson Syndrome and the lipoma.

Main Results:

• A 4-year-old female with Mowat-Wilson Syndrome was incidentally found to have a suprasellar spindle cell lipoma.
• Immunohistochemistry revealed loss of RB1 expression in the lipoma.
• This finding suggests a neoplastic etiology for the suprasellar spindle cell lipoma.

Conclusions:

• This case highlights a rare association between Mowat-Wilson Syndrome and suprasellar spindle cell lipoma.
• Loss of RB1 expression supports a neoplastic origin for this type of lipoma.
• Further research is needed to understand the implications of this finding in Mowat-Wilson Syndrome.