Rare differential diagnosis of primary adrenal insufficiency: case 6/2011]

History and admission finding: A 48-year-old patient (case 1) with progressive stiffness and weakness of the legs and urge incontinence and a 38-year-old patient (case 2) with primary adrenal insufficiency and familial occurence adrenoleukodystorphy (ALD) presented for further evaluation. Investigations: Laboratory values in case 1 revealed primary adrenal insufficiency (decreased cortisol and increased corticotropin) and increase of the very long chain fatty acids (VLCFA). Clinical examination revealed paraspasticity and neurography showed demyelinating motor neuropathy of the lower extremities. Case 2 also showed pyramidal tract affection to the legs, reduced nerve conduction velocity of the tibial and sural nerves and increased VLCFA. Diagnosis, treatment and course: These findings were consistent with the diagnosis of the adult form of ALD. In case 1, supplementation therapy with hydrocortisone and fludrocortisone was initiated, resulting in marked alleviation of the clinical symptoms. In contrast, urge incontinence did not significantly improve despite multimodal drug treatment with Lorenzo's oil and restriction of dietary VLCFA were initiated and supplementation treatment for adrenal insufficiency was continued. On a follow-up visit one year later, the patients' conditions were stable. Conclusions: ALD comprises a wide spectrum of clinical symptoms. Adrenal insufficiency may precede neurological symptoms (main neurological symptoms: paraspasticity and/or demyelinating neuropathy). Regular testing for adrenal insufficiency and adequate supplementation therapy are mandatory. In most patients suffering from ALD therapeutic options comprise restriction of dietary VLCFA, but their clinical efficacy remains to be proven. Haematopoetic stem cell transplantation is only recommended in the initial state of cerebral involvement.