Adrenomyeloneuropathy. A report on two families

Abstract

Adrenomyeloneuropathy (AMN) is reported in two kindreds. In the first family, four male patients were affected: two adults with the full clinical picture but with a different chronology of the main symptoms, a third adult with central nervous system involvement and a child who died early with adrenal insufficiency. The second family included two male patients with AMN, one adult with raised ACTH levels and his nephew with normal adrenal function. Two other young males died with adrenoleukodystrophy (ALD), one being subjected to a postmortem study. Clinical, endocrinological, neurophysiological and pathological studies were performed. The following conclusions can be made (1) AMN and ALD are closely related entities; (2) there exists a considerable intrafamilial variability of the clinical picture; (3) AMN is to be included in the differential diagnosis of myelopathies and, conversely, signs of central nervous system damage must be sought in males patients with adrenal insufficiency; (4) electron microscopy of nerve twigs brings supportive diagnostic evidence pending the more widespread determination of the C26/C22 fatty acids ratios in cultured fibroblasts or plasma.