Abetalipoproteinemia or Bassen-Kornzweig syndrome. Clinical, biochemical and electrophysiological features of two cases.

The clinical, biochemical and electrophysiologic features of two patients with abetalipoproteinemia, a 17 year old boy and his sister of 14, are reported. They are the second and third reports of this disease in Belgium. Diagnosis was made by the Apo-B deficiency in their serum and the normal levels in their parents'. According to other investigators we revealed in both cases deficiency of other apoproteins, indicating, that the metabolic defect affects all classes of plasma lipoproteins. EMG findings showed axonal neuropathy. Somatosensory evoked potentials demonstrated dorsal column dysfunction. Findings were consistent with the known neuropathology of abetalipoproteinemia and of vitamin E deficiency syndromes. The therapeutic role of vitamin E is discussed.