Multiple symmetric lipomatosis presenting with polyneuropathy

Area of Science:

• Neurology
• Endocrinology
• Genetics

Background:

• Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the symmetrical deposition of benign adipose tumors, primarily in the trunk and upper extremities.
• While MSL is typically associated with other conditions like alcoholism and diabetes mellitus, its neurological manifestations are not well-documented.
• The underlying pathophysiology of MSL remains incompletely understood, though genetic factors are suspected.

Observation:

• This report details an unusual case of MSL presenting with severe polyneuropathy as the initial clinical manifestation.
• The patient exhibited progressive neurological deficits, prompting an extensive diagnostic workup.
• This represents the first documented case of MSL presenting with polyneuropathy in Israel.

Findings:

• The diagnostic evaluation confirmed MSL and revealed a significant, previously unrecognized association with severe polyneuropathy.
• Literature review indicates this is the first reported instance of polyneuropathy being the presenting symptom of MSL.
• The findings suggest a potential direct or indirect link between MSL and peripheral nerve dysfunction.

Implications:

• MSL should be considered in the differential diagnosis of patients presenting with unexplained polyneuropathy, particularly those with characteristic lipoma distribution.
• Further research is warranted to elucidate the mechanisms by which MSL may cause or contribute to polyneuropathy.
• This case expands the known clinical spectrum of MSL and highlights the importance of considering rare genetic syndromes in neurological diagnostics.