ISSN: 1301-2193 E-ISSN: 1308-9846
  • Turkish Journal of
    Endocrinology and Metabolism
CASE REPORT

Abetalipoproteinemia (Bassen-Kornzweig Syndrome) - Case Report
Abetalipoproteinemia (Bassen-Kornzweig Syndrome) - Case Report
Makale Dili: EN
ABSTRACT

Abetalipoproteinemia is an autosomal recessive disease which was first reported by Bassen and Kornzweig in 1952 with the findings of acanthocytosis, retinitis pigmentosa, low plasma cholesterol levels and neurological derangements. The diagnosis of abetalipoproteinemia was established in the case of a 17-year old man with chronic diarrhea, growth retardation, neurological derangements, visual impairment and retinitis pigmentosa, low plasma cholesterol, triglyceride and LDL cholesterol levels, absence of beta-band in lipoprotein electrophoresis and existence of circulating acanthocytes. The patient was referred to the Endocrinology Department of Dicle University, in a coma. Although the patient had been symptomatic since his infancy, the disease, had been misdiagnosed as being various other malabsorptive states and infectious diseases. We decided to report the case to be paid more attention to prevent misdiagnosis.
Keywords: Abetalipoproteinemia, acantocytosis, retinitis pigmentosa, cholesterol, triglyceride

ÖZET

Abetalipoproteinemia is an autosomal recessive disease which was first reported by Bassen and Kornzweig in 1952 with the findings of acanthocytosis, retinitis pigmentosa, low plasma cholesterol levels and neurological derangements. The diagnosis of abetalipoproteinemia was established in the case of a 17-year old man with chronic diarrhea, growth retardation, neurological derangements, visual impairment and retinitis pigmentosa, low plasma cholesterol, triglyceride and LDL cholesterol levels, absence of beta-band in lipoprotein electrophoresis and existence of circulating acanthocytes. The patient was referred to the Endocrinology Department of Dicle University, in a coma. Although the patient had been symptomatic since his infancy, the disease, had been misdiagnosed as being various other malabsorptive states and infectious diseases. We decided to report the case to be paid more attention to prevent misdiagnosis.
Keywords: Abetalipoproteinemia, acantocytosis, retinitis pigmentosa, cholesterol, triglyceride