My professor and I are working on four brothers who have recently been admitted to the neurology department at Sapienza University of Rome, Italy. After a careful evaluation, we have hypothesized the rare Tangier disease: physical examination, blood tests and neurophysiological tests seem to support our hypothesis. All the siblings (1 male, 3 females) present: peripheral neuropathy, lagophthalmos, low HDL levels, hepatosplenomegaly.
What intrigues us most is understanding the pathophysiology of Tangier's neurological alterations: is there a link between the metabolic and the neurological alterations? Can the low HDL-cholesterol explain the peripheral neuropathy and how? We are puzzling over this enigma, so I am asking for any explanations or ideas.
Thank you All.