Importance of family history in patients with adrenoleukodystrophy

Abstract

Sir, X-linked adrenoleukodystrophy accounts for up to 10% cases of adrenocortical insufficiency and is now being increasingly identified in young males with idiopathic Addison’s disease. Widespread pathological damage is encountered in the nervous system due to abnormal accumulation of very long chain fatty acids (VLCFAs). The disease often demonstrates intrafamilial phenotypic variability, suggesting that non-genetic factors play a role in such expression. A detailed history and early estimation of VLCFAs in clinically suspected individuals make diagnosis possible in affected families. We present an interesting case of adrenoleukodystrophy where diagnosis was helped by a significant family history and also a brief review of the contemporary literature. A 33-year-old gentleman presented in December 2002 with complaints of giddiness, vomiting, abdominal pain, loose motions and pigmentation around the umbilicus. He had confirmed hyponatremia (Na-122 mEq/l) and a subnormal synacthen test (cortisol at 30 min was 287 nmol/l) and was diagnosed with Addison’s disease and was commenced on hydrocortisone and fludrocortisone replacement. He had a stable disease throughout except for two episodes of Addisonian crisis secondary to gastroenteritis requiring intravenous steroids. Six years later, he presented with complaints of bladder disturbance (polyuria, urgency and dysuria). He was hospitalized thrice in a very short span of time with confirmed urinary tract infections. One such episode led a complete retention of urine for which he had to be catheterized for 2 days. Digital examinations of …