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  1. Jesslyn L, Ngah KC, Muhammad Zaidulkhair Mhd R, Ashwini S
    Med J Malaysia, 2018 10;73(5):321-322.
    PMID: 30350812 MyJurnal
    Van Bogaert Scherer Epstein Disease is a rare autosomal recessive condition involving abnormal deposition of cholesterol and cholestanol in various parts of body, various clinical symptoms manifest on different age group, significantly neurological impairment in late presentation. We are reporting a slow learner young lady presented with bilateral painless ankle swelling, our initial clinical impression were torn Achilles tendon or Haglund's deformity. On further detail history taking, it leads us towards this disease and confirmed with biopsy. A proper history taking and assessment can easily diagnose this condition, early treatment can perhaps change the fate of these unfortunate patients.
    Matched MeSH terms: Xanthomatosis, Cerebrotendinous
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