Abetalipoproteinemia and metastatic spinal cord glioblastoma.
Abetalipoproteinemia (ABL [Bassen-Kornzweig syndrome]) is characterized by marked hypolipidemia with absence of low-density lipoproteins, fat-soluble vitamin deficiency, spinocerebellar ataxia, and retinitis pigmentosa. Our patient had ABL, severe neurologic disease, and spinal cord malignancy, as well as disseminated CNS and extraneural metastases. It is possible that patients with this disorder and long-standing fat-soluble vitamin deficiency may have increased risk for CNS malignancy.
D000012:Abetalipoproteinemia / Q000150:complications* / Q000473:pathology; D000328:Adult; D005260:Female; D005909:Glioblastoma / Q000150:complications* / Q000473:pathology; D006801:Humans; D013120:Spinal Cord Neoplasms / Q000150:complications* / Q000473:pathology