[X-linked adrenoleukodystrophy--case reports of 4 patients in a family]

A result of a thorough clinical and laboratory study of 27 family members from three generations showed three patients with adrenoleukodystrophy (ALD), one with adrenomyeloneuropathy (AMN) and five females heterozygous for ALD, three of which were psychiatric patients. Four males died at younger age under mysterious circumstances and it is certain that three of them had dark pigment. Based on this information, and on their position in the family tree, it can be presumed that all of them, or three at least, had ALD or AMN. It is necessary to measure very long chain fatty acids level (VLCFA) in the blood of males with Addison's disease in families with ALD or AMN cases, as well as in persons showing signs of demyelinization of white substance followed by progressive neurological symptomatology of unknown cause. All the ALD and AMN patients detected up to now were diagnosed at the Department of Pediatrics, University Hospital Rebro Zagreb. It undoubtedly indicated that there are still a significant number of undetected cases among children and adults in Croatia. In view of the recently provided possibilities of VLCFA level measurements in Croatia, a larger number of detected cases can be expected. Early detection of patients and heterozygotes for ALD, as well as the prenatal diagnostics, enable the families at risk to plan their descendants. Adrenal insufficiency in these patients is very successfully cured with gluco and mineralcorticoid substitution therapy. Unfortunately, there are still no methods of stopping or curing progressive neurological disorders.