[Primary adrenal insufficiency as the form of onset of adrenoleukodystrophy in a 4-year-old boy]. / Insuficiencia suprarrenal primaria como inicio de adrenoleucodistrofia en un varón de 4 años.

X-linked adrenoleukodystrophy is an inherited metabolic disease caused by the accumulation of saturated very long chain fatty acids (VLCFA). Given that the form of presentation can be primary adrenal insufficiency, diagnosis in affected males is important. Patient was a 4-year-old boy with attention deficit hyperactivity disorder, cutaneous-mucosal hyperpigmentation, and dehydration with hyponatremia and hyperpotassemia was diagnosed with adrenoleukodystrophy presenting as primary adrenal insufficiency. Antiadrenal antibodies: negative. Plasma VLCFA: C(26:0)=1.25mg/ml (0.18-0.48), C(24:0)/C(22:0) =1.53 (< 1), and C(26:0)/ C(22:0)=0.04 (< 0.02). Abdominal computed tomography: small adrenal glands. Cranial magnetic resonance imaging and evoked potentials: normal at diagnosis and with signs of white matter demyelination after 2 years of follow-up. Testing for an autoimmune etiology and adrenoleukodystrophy is important in boys with primary adrenal insufficiency before Addison's disease is diagnosed.

Insuficiencia suprarrenal primaria como inicio de adrenoleucodistrofia en un varón de 4 años / Primary adrenal insufficiency as the form of onset of adrenoleukodystrophy in a 4-year-old boy

La adrenoleucodistrofia ligada al cromosoma X es una enfermedad metabólica hereditaria producida por acumulación de ácidos grasos saturados de cadena muy larga (VLCFA). dado que puede aparecer con insuficiencia suprarrenal primaria, es importante su estudio en los varones afectados. Varón de 4 años de edad con síndrome de hiperactividad, hiperpigmentación cutaneomucosa y deshidratación hiponatrémica e hiperpotasémica que es diagnosticado de adrenoleucodistrofia con insuficiencia suprarrenal primaria como forma de manifestación clínica. Presentaba: anticuerpos antiadrenales negativos; VLCFA en plasma, C26:0 = 1,25 μg/ml (0,18-0,48), C2/C22:04:0= 1,53 (< 1) y C26:0/C22:0= 0,04 (< 0,02); tomografía abdominal: glándulas suprarrenales de pequeño tamaño; resonancia magnética craneal y potenciales evocados: normales al diagnóstico y con signos de demielinización de sustancia blanca tras 2 años de seguimiento. Ante un niño varón con insuficiencia suprarrenal primaria, es necesario descartar causas autoinmunitarias y adrenoleucodistrofia antes del diagnóstico de enfermedad de Addison (AU)

X-linked adrenoleukodystrophy is an inherited metabolic disease caused by the accumulation of saturated very long chain fatty acids (VLCFA). Given that the form of presentation can be primary adrenal insufficiency, diagnosis in affected males is important. Patient was a 4-year-old boy with attention deficit hyperactivity disorder, cutaneous-mucosal hyperpigmentation, and dehydration with hyponatremia and hyperpotassemia was diagnosed with adrenoleukodystrophy presenting as primary adrenal insufficiency. Antiadrenal antibodies: negative. Plasma VLCFA: C26:0 = 1.25 mg/ml (0.18-0.48), C24:0/C22:0=1.53 (< 1), and C26:0/C22:0 = 0.04 (< 0.02). Abdominal computed tomography: small adrenal glands. Cranial magnetic resonance imaging and evoked potentials: normal at diagnosis and with signs of white matter demyelination after 2 years of follow-up. Testing for an autoimmune etiology and adrenoleukodystrophy is important in boys with primary adrenal insufficiency before Addison’s disease is diagnosed (AU)